Branchio-Oto-Renal Syndrome: An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)Dictionaries, MedicalProtein Tyrosine Phosphatases: An enzyme group that specifically dephosphorylates phosphotyrosyl residues in selected proteins. Together with PROTEIN-TYROSINE KINASE, it regulates tyrosine phosphorylation and dephosphorylation in cellular signal transduction and may play a role in cell growth control and carcinogenesis.Intracellular Signaling Peptides and Proteins: Proteins and peptides that are involved in SIGNAL TRANSDUCTION within the cell. Included here are peptides and proteins that regulate the activity of TRANSCRIPTION FACTORS and cellular processes in response to signals from CELL SURFACE RECEPTORS. Intracellular signaling peptide and proteins may be part of an enzymatic signaling cascade or act through binding to and modifying the action of other signaling factors.Ear: The hearing and equilibrium system of the body. It consists of three parts: the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR. Sound waves are transmitted through this organ where vibration is transduced to nerve signals that pass through the ACOUSTIC NERVE to the CENTRAL NERVOUS SYSTEM. The inner ear also contains the vestibular organ that maintains equilibrium by transducing signals to the VESTIBULAR NERVE.Dictionaries as Topic: Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.Syndrome: A characteristic symptom complex.Eye ProteinsPolymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Hearing Loss, Conductive: Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES.High-Throughput Nucleotide Sequencing: Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.Branchioma: A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Biological Ontologies: Structured vocabularies describing concepts from the fields of biology and relationships between concepts.Disease: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown.Vocabulary, Controlled: A specified list of terms with a fixed and unalterable meaning, and from which a selection is made when CATALOGING; ABSTRACTING AND INDEXING; or searching BOOKS; JOURNALS AS TOPIC; and other documents. The control is intended to avoid the scattering of related subjects under different headings (SUBJECT HEADINGS). The list may be altered or extended only by the publisher or issuing agency. (From Harrod's Librarians' Glossary, 7th ed, p163)Abbreviations as Topic: Shortened forms of written words or phrases used for brevity.Radiology: A specialty concerned with the use of x-ray and other forms of radiant energy in the diagnosis and treatment of disease.Natural Language Processing: Computer processing of a language with rules that reflect and describe current usage rather than prescribed usage.Abbreviations: Works consisting of lists of shortened forms of written words or phrases used for brevity. Acronyms are included here.Terminology as Topic: The terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.MEDLINE: The premier bibliographic database of the NATIONAL LIBRARY OF MEDICINE. MEDLINE® (MEDLARS Online) is the primary subset of PUBMED and can be searched on NLM's Web site in PubMed or the NLM Gateway. MEDLINE references are indexed with MEDICAL SUBJECT HEADINGS (MeSH).MedlinePlus: NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.Periodicals as Topic: A publication issued at stated, more or less regular, intervals.Publishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing.Research: Critical and exhaustive investigation or experimentation, having for its aim the discovery of new facts and their correct interpretation, the revision of accepted conclusions, theories, or laws in the light of newly discovered facts, or the practical application of such new or revised conclusions, theories, or laws. (Webster, 3d ed)Bibliometrics: The use of statistical methods in the analysis of a body of literature to reveal the historical development of subject fields and patterns of authorship, publication, and use. Formerly called statistical bibliography. (from The ALA Glossary of Library and Information Science, 1983)NebraskaFacial Paralysis: Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Ear, External: The outer part of the hearing system of the body. It includes the shell-like EAR AURICLE which collects sound, and the EXTERNAL EAR CANAL, the TYMPANIC MEMBRANE, and the EXTERNAL EAR CARTILAGES.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Multicystic Dysplastic Kidney: A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY.Social Control, Formal: Control which is exerted by the more stable organizations of society, such as established institutions and the law. They are ordinarily embodied in definite codes, usually written.Embryology: The study of the development of an organism during the embryonic and fetal stages of life.Kidney: Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.Polycystic Kidney Diseases: Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.Hypoparathyroidism: A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone.Urinary Tract: The duct which coveys URINE from the pelvis of the KIDNEY through the URETERS, BLADDER, and URETHRA.Autistic Disorder: A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V)Child Development Disorders, Pervasive: Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements.Myopia: A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.Education, Nursing: Use for general articles concerning nursing education.Developmental Disabilities: Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Nigeria: A republic in western Africa, south of NIGER between BENIN and CAMEROON. Its capital is Abuja.Fistula: Abnormal communication most commonly seen between two internal organs, or between an internal organ and the surface of the body.Arteriovenous Fistula: An abnormal direct communication between an artery and a vein without passing through the CAPILLARIES. An A-V fistula usually leads to the formation of a dilated sac-like connection, arteriovenous aneurysm. The locations and size of the shunts determine the degree of effects on the cardiovascular functions such as BLOOD PRESSURE and HEART RATE.Intestinal Fistula: An abnormal anatomical passage between the INTESTINE, and another segment of the intestine or other organs. External intestinal fistula is connected to the SKIN (enterocutaneous fistula). Internal intestinal fistula can be connected to a number of organs, such as STOMACH (gastrocolic fistula), the BILIARY TRACT (cholecystoduodenal fistula), or the URINARY BLADDER of the URINARY TRACT (colovesical fistula). Risk factors include inflammatory processes, cancer, radiation treatment, and surgical misadventures (MEDICAL ERRORS).JordanCutaneous Fistula: An abnormal passage or communication leading from an internal organ to the surface of the body.

Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. (1/36)

A spontaneous mutation causing deafness and circling behavior was discovered in a C3H/HeJ colony of mice at the Jackson Laboratory. Pathological analysis of mutant mice revealed gross morphological abnormalities of the inner ear, and also dysmorphic or missing kidneys. The deafness and abnormal behavior were shown to be inherited as an autosomal recessive trait and mapped to mouse chromosome 1 near the position of the Eya1 gene. The human homolog of this gene, EYA1, has been shown to underly branchio-oto-renal (BOR) syndrome, an autosomal dominant disorder characterized by hearing loss with associated branchial and renal anomalies. Molecular analysis of the Eya1 gene in mutant mice revealed the insertion of an intracisternal A particle (IAP) element in intron 7. The presence of the IAP insertion was associated with reduced expression of the normal Eya1 message and formation of additional aberrant transcripts. The hypomorphic nature of the mutation may explain its recessive inheritance, if protein levels in homozygotes, but not heterozygotes, are below a critical threshold needed for normal developmental function. The new mouse mutation is designated Eya1(bor) to denote its similarity to human BOR syndrome, and will provide a valuable model for studying mutant gene expression and etiology.  (+info)

Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13. (2/36)

Human NADH dehydrogenase (ubiquinone) 1beta-subcomplex, 9 (NDUFB9) is a nuclear encoded mitochondrial protein with the respiratory electron transport chain. It has been physically mapped to a 1-Mb deletion at chromosome 8q13 which also contains the gene for branchio-oto-renal (BOR) syndrome. BOR syndrome is characterized by branchial and renal abnormalities with hearing impairment. Since several hereditary deafness disorders have been associated with mitochondrial mutations, NDUFB9 was considered a candidate gene for BOR syndrome. Recently, EYA1 gene has been identified in the region which underlies the BOR syndrome but majority of BOR families did not show mutations in the EYA1 gene. Here we have determined the genomic structure of the NDUFB9 gene, including the nucleotide sequence, organization and the boundaries of the four coding exons. PCR primers were designed from the adjacent intron sequences that allow amplification of the four exons that encode the complete open reading frame. To identify whether mutations in NDUFB9 are involved in causing the BOR syndrome, we screened 9 BOR families which did not show mutations in the EYA1 gene by heteroduplex analysis; however, no mutations were found.  (+info)

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. (3/36)

The Drosophila eyes absent gene ( eya ) is involved in the formation of compound eyes. Flies with loss-of-function mutations of this gene develop no eyes and form the ectopic eye in the antennae and the ventral zone of the head on target expression. A highly conserved homo-logous gene in various invertebrates and vertebrates has been shown to function in the formation of the eye. In contrast, a human homologue, EYA1, has been identified by positional cloning as a candidate gene for branchio-oto-renal (BOR) syndrome, in which phenotypic manifestations are restricted to the areas of branchial arch, ear and kidney, with usually no anomalies in the eye. We have examined genomic DNA isolated from patients with various types of developmental eye anomaly for EYA1 mutations by the use of polymerase chain reaction-single-strand conformation polymorphism and sequencing. We identified three novel missense mutations in patients who had con-genital cataracts and ocular anterior segment anomalies. One of the patients had clinical features of BOR syndrome as well. This result implies that the human EYA1 gene is also involved in eye morphogenesis, and that a wide variety of clinical manifestations may be caused by EYA1 mutations.  (+info)

Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. (4/36)

Branchio-oto-renal (BOR) syndrome is characterized by ear malformations, cervical fistulas, hearing loss, and renal anomalies. It is an autosomal dominant disorder with variable clinical manifestations. The most common features of BOR syndrome are branchial, hearing, and renal anomalies. However, many affected subjects have been observed with branchial-cleft anomalies and hearing loss but without renal anomalies, a condition called "branchio-otic" (BO) syndrome. It is logical to question whether the BOR and BO syndromes are allelic or whether they represent distinct genetic entities. We identified a very large extended family whose members had branchial and hearing anomalies associated with commissural lip pits that segregated in an autosomal dominant fashion. Using a genomewide search strategy, we identified genetic linkage, with a maximum LOD score of 4.81 at recombination fraction 0, between the BO phenotype and polymorphic marker D1S2757 in the genetic region of chromosome 1q31. This is the first report of linkage for a second gene associated with BOR syndrome. The findings have important clinical implications and will provide insight into the genetic basis of BOR syndrome.  (+info)

Multiple intracranial aneurysms associated with branchio-oto-dysplasia. (5/36)

Branchio-oto-dysplasia is characterized by abnormalities of embryonic branchial arch system and deafness inherited as autosomal dominant with variable gene expression. We present a rare case of multiple intracranial aneurysms associated with branchio-oto-dysplasia. A 40-yr-old man with severe headache presented as spontaneous subarachnoid hemorrhage on brain computed tomographic scan. The patient also manifested clinical features of branchio-oto-dysplasia and right hemifacial hypoplasia. Carotid angiogram confirmed an aneurysm in the anterior communicating artery. Intraoperative findings demonstrated multiple aneurysms in the anterior communicating artery and in the left posterior communicating artery, which were clipped successfully. Postoperative course was uneventful. This condition has not been reported previously. We also reviewed literatures to discuss whether the intracranial aneurysm was as a coincidental finding or a part of this malformation.  (+info)

Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome. (6/36)

Eya1 is a critical gene for mammalian organogenesis. Mutations in human EYA1 cause branchio-oto-renal (BOR) syndrome, an autosomal dominant disorder characterized by varying combinations of branchial, otic and renal anomalies, whereas deletion of mouse Eya1 results in the absence of multiple organ formation. Eya1 and other Eya gene products share a highly conserved 271 amino acid Eya domain that is required for protein-protein interaction. Recently, several point mutations that result in single amino acid substitutions in the conserved Eya domain region of EYA1 have been identified in BOR patients; however, the molecular and developmental basis of organ defects that occurred in BOR syndrome is unclear. To understand how these point mutations cause disease, we have analyzed the functional importance of these Eya domain missense mutations with respect to protein complex formation and cellular localization. We have demonstrated that these point mutations do not alter protein localization. However, four mutations are crucial for protein-protein interactions in both yeast and mammalian cells. Our results provide insights into the molecular mechanisms of organ defects detected in human syndromes.  (+info)

A family with the branchio-oto-renal syndrome: clinical and genetic correlations. (7/36)

BACKGROUND: The branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by hearing loss of early onset, preauricular pits, branchial clefts, and early progressive chronic renal failure in up to 40% of family affected members. So far, it has not received due attention in the adult European nephrology literature and because of the combination of deafness with chronic renal failure it may be confused with the Alport syndrome. The BOR syndrome is caused by mutations in the EYA1 gene that maps on chromosome 8q13.3. METHODS: A three-generation, 20-member large BOR Greek-Cypriot family has been studied and followed up clinically over a 27-year period. The findings in four individuals who developed early onset renal failure are described in detail. Genetic DNA linkage studies have also been carried out. RESULTS: Of the 15 family members at risk, 14 were tested with DNA linkage analysis. Ten members were genetically affected and four were normal. All 10 affected members developed early-onset deafness. Some had different ear lobe abnormalities. Nine affected members had preauricular pits. In some of the patients these pits were deep and prominent while in others they were minor and superficial. Eight affected members had early-onset branchial clefts that needed early corrective surgery without the correct familial diagnosis ever being made. End-stage renal disease (ESRD) developed in four members at ages 36, 14, 17, and 17 with minimal proteinuria, if any. This was due to unilateral renal agenesis with contralateral hypodysplasia or bilateral, severe renal hypodysplasia. CONCLUSION: The BOR syndrome is an infrequent but well-described entity that combines early-onset renal failure and deafness together with branchial clefts and preauricular pits. Renal agenesis and dysplasia are the causes of ESRD in these individuals. Other renal abnormalities include bifid kidneys with double ureters, vesico-ureteric reflux and pelvi-ureteric stenoses. The BOR syndrome should be included in the differential diagnosis of deafness and chronic renal failure in childhood and adolescence.  (+info)

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. (8/36)

Branchio-Oto-Renal (BOR) syndrome is transmitted as an autosomal dominant disorder, affects an estimated 2% of profoundly deaf children, and is caused by mutations in the human EYA1 gene. However, in up to half of the reported cases, EYA1 mutation screening is negative. This finding has been taken as evidence of genetic heterogeneity. Mutation screening of the coding region of EYA1 in a panel of families linked to chromosome 8 was conducted using SSCP and direct sequencing. Only one point mutation in five probands was detected. However, complex rearrangements, such as inversions or large deletions, were discovered in the other four patients using Southern blot analysis. These data suggest that more complex rearrangements may remain undetected in EYA1 since SSCP and sequencing were commonly used to detect mutations in this gene.  (+info)

*SALL1

Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as branchio-oto-renal syndrome (BOR). Two transcript ... Engels S, Kohlhase J, McGaughran J (Jun 2000). "A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype". Journal ... GeneReviews/NCBI/NIH/UW entry on Townes-Brocks Syndrome Nishinakamura R, Takasato M (Nov 2005). "Essential roles of Sall1 in ... Surka WS, Kohlhase J, Neunert CE, Schneider DS, Proud VK (Aug 2001). "Unique family with Townes-Brocks syndrome, SALL1 mutation ...

*SIX5

"Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome". Am. J. Hum. Genet. 80 (4): 800-4. doi: ...

*SIX1

"SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes". Proceedings of the National Academy ... "SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome". The Laryngoscope ... "A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3". Journal of Medical Genetics. 40 (7): 515-9. doi: ... "Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome". Human Molecular Genetics. 10 (24): 2775-81. ...

*Multicystic dysplastic kidney

... in syndromes)have been determined. The mutations in question occur at EYA1 or SIX1 genes (branchio-oto-renal syndrome). The ... Renal dysplasia can be a consequence of a genetic syndrome, which in turn may affect the digestive tract, nervous system, or ... Potter Syndrome~treatment at eMedicine Lager, Donna J.; Abrahams, Neil (2012-11-07). Practical Renal Pathology, A Diagnostic ... Multicystic dysplastic kidney is a common type of renal cystic disease, and it is a cause of an abdominal mass in infants. When ...

*EYA1

1999). "Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and ... 1998). "Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) ... 1998). "Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome". Hum. Mutat ... "A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene ...

*Enlarged vestibular aqueduct

... s can also occur in Branchio-oto-renal syndrome, CHARGE syndrome and Renal Tubular Acidosis. ... Hearing loss caused by large vestibular aqueduct syndrome is not inevitable, although people with the syndrome are at a much ... When the endolymphatic duct and sac are larger than normal, as is the case in large vestibular aqueduct syndrome, endolymph is ... Enlarged vestibular aqueducts with enlarged endolymphatic sacs occur in Pendred syndrome which is caused by a defect on ...

*Preauricular sinus and cyst

They may be present in Beckwith-Wiedemann syndrome, and in rare cases, they may be associated with branchio-oto-renal syndrome ... "Syndromic Ear Anomalies and Renal Ultrasounds". James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the ... Branchial cleft cyst Thyroglossal cyst Lachiewicz Sibley syndrome List of cutaneous conditions Geswein, a familial name of ... This and other congenital ear malformations are sometimes associated with renal anomalies. ...

*EYA2

"A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene ...

*DACH1

"Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, ... Renal hypodysplasia (RHD) is characterized by small and/or disorganized kidneys following abnormal organogenesis. Double ... "Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia". Nephrology, ...

*NDUFB9

B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome". ...

*Metanephrogenic blastema

... lead to the renal abnormalities of BOR syndrome (branchio-oto-renal syndrome). Mesenchyme Metanephros Blastema Kidney ... which bifurcates and coalesces as a result to form the renal pelvis, major and minor calyces and collecting ducts. Mutations in ...

*Mondini dysplasia

The Mondini dysplasia can occur in cases of Pendred Syndrome and Branchio-oto-renal syndrome and in other syndromes, but can ...

*Conductive hearing loss

Treacher Collins syndrome, branchio-oto-renal syndrome etc. Barotrauma unequal air pressures in the external and middle ear. ... This can be an isolated phenomenon or can occur as part of a syndrome where development of the 1st and 2nd branchial arches is ...

*List of MeSH codes (C16)

... branchio-oto-renal syndrome MeSH C16.131.260.190 --- cri-du-chat syndrome MeSH C16.131.260.210 --- de lange syndrome MeSH ... branchio-oto-renal syndrome MeSH C16.320.180.190 --- cri-du-chat syndrome MeSH C16.320.180.210 --- de lange syndrome MeSH ... branchio-oto-renal syndrome MeSH C16.131.077.250 --- cockayne syndrome MeSH C16.131.077.262 --- cri-du-chat syndrome MeSH ... coffin-lowry syndrome MeSH C16.320.322.500.500 --- fragile x syndrome MeSH C16.320.322.500.625 --- lesch-nyhan syndrome MeSH ...

*Townes-Brocks syndrome

... branchio-oto-renal (BOR) syndrome, and Fanconi anemia and other 'anus-hand-ear' syndromes. Although some symptoms can be life- ... Renal abnormalities, sometimes leading to impaired renal function or renal failure, including hypoplastic kidneys ( ... Townes-Brocks syndrome (TBS) is a rare genetic disease that has been described in approximately 200 cases in the published ... threatening, many people diagnosed with Townes-Brocks Syndrome live a normal lifespan. Rapini, Ronald P.; Bolognia, Jean L.; ...

*Lachiewicz-Sibley syndrome

Unlike branchio-oto-renal (BOR) syndrome, Lachiewicz-Sibley syndrome is characterized by only preauricular pitting and renal ... Branchio-oto-renal syndrome sciencedirect[dead link] Lachiewicz AM, Sibley R, Michael AF (June 1985). "Hereditary renal disease ... Lachiewicz-Sibley syndrome is a rare autosomal dominant disorder characterized by preauricular pits and renal disease. Persons ... Persons with BOR syndrome also present with hearing loss, branchial fistulas or cysts, malformed ears, and lacrimal stenosis. ...

*Renal agenesis

Kallmann syndrome, branchio-oto-renal syndrome and others. Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X, Clarke ... Herlyn-Werner-Wunderlich syndrome is one such syndrome in which unilaterial renal agenesis is combined with a blind hemivagina ... Up to 40% of women with a urogenital tract anomaly also have an associated renal tract anomaly. Adults with unilateral renal ... renal agenesis and other causes of oligohydramnios sequence have been linked to a number of other conditions and syndromes to ...

*Branchio-oculo-facial syndrome

It is often misdiagnosed as branchio-oto-renal syndrome because of their similarities in symptoms.[medical citation needed] It ... Branchio-oculo-facial syndrome (BOFS) is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal ... Branchio-oculo-facial syndrome is difficult to diagnose because it has incomplete penetrance. ... Kulkarni, ML; S Deshmukh; A Kumar; PM Kulkarni (1 August 2005). "Branchio-oculo-facial syndrome Pseudo cleft". The Indian ...

*Branchio-oto-renal syndrome

The disease may then be termed Branchio-oto Syndrome (BO syndrome). The cause of branchio-oto-renal syndrome are mutations in ... Branchio-oto-renal syndrome (BOR), also known as branchiootorenal syndrome or BOR syndrome, is an autosomal dominant genetic ... It often has also been described as Melnick-Fraser syndrome. The symptoms and/or signs of branchio-oto-renal syndrome are ... The treatment of branchio-oto-renal syndrome is done per each affected area (or organ). For example, a person with hearing ...

*List of syndromes

... syndrome Brainstem stroke syndrome Branchio-oculo-facial syndrome Branchio-oto-renal syndrome Bromism Brown's syndrome Brown- ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Reiter's syndrome Renal dysplasia-limb defects syndrome Renfield syndrome Renpenning's syndrome Restless legs syndrome ... syndrome Hero syndrome Heyde's syndrome High-rise syndrome HIV/AIDS Holiday heart syndrome Holt-Oram syndrome Hopkins syndrome ...

*Sotos syndrome

8 (Branchio-oto-renal syndrome, CHARGE syndrome). *12 (Keutel syndrome, Timothy syndrome) ... Sotos syndrome (cerebral gigantism or Sotos-Dodge syndrome) is a rare genetic disorder characterized by excessive physical ... "Sotos syndrome". Genetics Home Reference.. *^ Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, et al. (April 2002 ... "Sotos Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2016-03-01.. ...

*Silver-Russell syndrome

8 (Branchio-oto-renal syndrome, CHARGE syndrome). *12 (Keutel syndrome, Timothy syndrome) ... Like other imprinting disorders (e.g. Prader-Willi syndrome, Angelman syndrome, and Beckwith-Wiedemann syndrome), Silver- ... Silver-Russell syndrome (SRS), also called Silver-Russell dwarfism or Russell-Silver syndrome (RSS) is a growth disorder ... In the United States it is usually referred to as Russell-Silver syndrome, and Silver-Russell syndrome elsewhere. It is one of ...

*List of diseases (B)

Branchio-oculo-facial syndrome Hing type. *Branchio-oculo-facial syndrome. *Branchio-oto-renal syndrome (BOR syndrome) ... chapter 6 epileptic syndromes in infants, childhood and adolescence 4th edition, CHARLOTTE DRAVET MICHELLE BUREAU ...

*List of diseases (B)

... arch syndrome X linked Branchio-oculo-facial syndrome Hing type Branchio-oculo-facial syndrome Branchio-oto-renal syndrome (BOR ... Becker's nevus Beemer-Ertbruggen syndrome Beemer-Langer syndrome Behcet syndrome Behr syndrome Behrens-Baumann-Dust syndrome ... sclerosis Bamforth syndrome BANF acoustic neurinoma Bangstad syndrome Banki syndrome Bannayan-Zonana syndrome Banti's syndrome ... syndrome Bonneman-Meinecke-Reich syndrome Bonnemann-Meinecke syndrome Bonnevie-Ullrich-Turner syndrome Book syndrome Boomerang ...

*Primordial dwarfism

8 (Branchio-oto-renal syndrome, CHARGE syndrome). *12 (Keutel syndrome, Timothy syndrome) ... Seckel syndrome. 210600. People with Seckel syndrome are noted to have microcephaly. Many also suffer from scoliosis, hip ... Meier-Gorlin syndrome. 224690. Individuals with Meier-Gorlin syndrome often have small ears and no kneecaps. They are also ... Like Russell-Silver syndrome, they usually exceed the height of those with Seckel syndrome and ODPDI and II. It is also known ...

*Acrocephalosyndactylia

8 (Branchio-oto-renal syndrome, CHARGE syndrome). *12 (Keutel syndrome, Timothy syndrome) ... type 4 - Goodman syndrome;[10][11] now classified with Carpenter syndrome[12] ... DDB Apert syndrome *^ a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical ... a b Online Mendelian Inheritance in Man (OMIM) Pfeiffer syndrome -101600 *^ Online Mendelian Inheritance in Man (OMIM) ...

*Sirenomelia

8 (Branchio-oto-renal syndrome, CHARGE syndrome). *12 (Keutel syndrome, Timothy syndrome) ... It has also been classified as an expanded part of the VACTERL association and as a form of caudal regression syndrome.[2][9][ ... Maternal diabetes mellitus has been associated with caudal regression syndrome and sirenomelia,[3][4] although a few sources ... Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused together. ...
Looking for online definition of branchio-oto-renal syndrome in the Medical Dictionary? branchio-oto-renal syndrome explanation free. What is branchio-oto-renal syndrome? Meaning of branchio-oto-renal syndrome medical term. What does branchio-oto-renal syndrome mean?
The first candidate gene for BOR has been mapped. This gene, EYA1 ("eyes absent-like", a human homologue of the Drosophila eyes absent gene), was found by positional cloning5 and maps to chromosome 8q13.3. Mutations in EYA1 have been described,6-8 which made it a candidate gene for BOR syndrome. The authors of the first report8 concluded that BO and BOR syndromes are allelic. The hunt for a candidate gene in BOF syndrome was more difficult, because only a few familial cases exist9 that could be studied. Since an allelic variant of BOF and BOR syndromes was not dispelled conclusively, several independent attempts have been undertaken to study the EYA1 gene region as a candidate gene region for BOF syndrome. By sequence analysis, no mutations were found in the EYA1 gene in five BOF syndrome patients.7 This suggests once more that BOR syndrome might not be allelic to BOF syndrome. EYA1 is a member of a gene family comprising at least four genes (EYA1-EYA4). EYA1 is expressed during embryogenesis in ...
The common phenotypic features of Branchio-Oto-Renal Syndrome are hearing loss (incidence 93%), preauricular pits or tags (82%), renal anomalies (67%), branchial fistulae (49%), pinnae deformity (36%) and external auditory canal stenosis (29%). The severity of hearing loss ranges from mild to profound and can be conductive, sensorineural and mixed. In addition to external auditory canal stenosis atresia occurs. Middle ear anomalies can include malformation, malposition, dislocation or fixation of the ossicles, and reduction in size or malformation of the middle ear cavity. Inner ear malformations include cochlear hypoplasia, enlargement of the cochlear and vestibular aqueducts, and hypoplasia of the lateral semicircular canal.(Chen, Francis et al. 1995). Renal anomalies range from hypoplasia to aplasia, either unilaterally or bilaterally. Anomalies of the collecting system affect the ureter, calyx and renal pelvis. (Fraser, Ayme et al. 1983; Heimler and Lieber 1986; Konig, Fuchs et al. 1994).
Branchio-oto-renal (BOR) syndrome is characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations. BOR sydrome is inherited in an autosomal dominant manner; approximately 10% of causative variants are de novo.. The Branchio-Oto-Renal Subpanel includes three genes. Our customizable targeted next-generation sequencing (NGS) panel uses Agilent SureSelect™ target enrichment and Illumina HiSeq sequencing. NGS technology is ideal for diagnostic testing of these disorders due to the extreme locus heterogeneity and phenotype overlap of the genes involved. The sensitivity of this panel is estimated at 99% for single-base substitutions.. If indicated, Sanger sequencing may be performed in both directions using BigDye Terminator chemistry with the ABI 3730 DNA analyzer with target specific amplicons. It may also be used to supplement specific guaranteed target regions ...
Editor-The branchio-oculo-facial syndrome (BOFS) is characterised by a branchial cleft sinus or linear skin lesion behind the ear, lacrimal duct obstruction, colobomata of the iris/retina, hypertrophy of the lateral pillars of the philtrum ("pseudocleft"), an asymmetrical nose with a broad tip, and auricular and lip pits. Premature greying of the hair is also observed.1 Inheritance is autosomal dominant (OMIM 113620).2 Several anomalies common to both BOF and BOR (branchio-oto-renal) syndromes have been reported.3 McCool and Weaver4 reported three cases with BOF and unilateral renal agenesis. This anomaly is not frequent in BOFS but is characteristic for patients with BOR, and hence a contiguous gene syndrome or the presence of different mutations within a single gene have been suggested.4 Recently, the BOR gene was identified by positional cloning on chromosome 8q13.3 and mapped between markers D8S1060 and D8S1807.5 The gene was named "eyes absent-like 1" (EYA1), the human homologue of the ...
Lachiewicz-Sibley syndrome is a rare autosomal dominant disorder characterized by preauricular pits and renal disease. Persons with this disease may have hypoplasic kidneys or proteinuria. This disease was first described in a Caucasian family of British and Irish descent that emigrated to Ohio in the 19th century before settling in Nebraska. Many of the members of this family still live in Nebraska, although the relatives are now scattered throughout the country. Unlike branchio-oto-renal (BOR) syndrome, Lachiewicz-Sibley syndrome is characterized by only preauricular pitting and renal disease. Persons with BOR syndrome also present with hearing loss, branchial fistulas or cysts, malformed ears, and lacrimal stenosis. Other anomalies in BOR syndrome may include a long narrow face, a deep overbite, and facial paralysis. It was characterized in 1985. Branchio-oto-renal syndrome sciencedirect[dead link] Lachiewicz AM, Sibley R, Michael AF (June 1985). "Hereditary renal disease and preauricular ...
Features of this disorder involve the head (microcephaly, small forehead, micrognathia, malar hypoplasia, broad or divided nasal tip, depressed nasal bridge, short nasal septum, cleft lip and palate, lip pits, dental abnormalities), the ears (microtic, low-set and/or posteriorly rotated, overfolded with hypoplastic superior helix, posterior and preauricular pit, supraauricular sinuses, conductive hearing loss secondary to fusion of the middle ear ossicles), the eyes (hypertelorism, ptosis, upslanting palpebral fissures, strabismus, telecanthus, microphthalmia, anophthalmia, iris and retinal coloboma, cataract, lacrimal duct obstruction, myopia), the kidneys (renal agenesis, cystic kidney disease), the skeleton (kyphosis, hyperlordosis, hypoplastic thumbs, polydactyly, clinodactyly), the skin (aplasia cutis congenita, subcutaneous scalp cysts, hemangiomatous branchial clefts, supernumerary nipples, hypoplastic fingernails, premature graying of hair) and the central nervous system (mild mental ...
Inner ear anomalies responsible for congenital sensorineural hearing loss were classified by Schuknecht, according to their frequencies, into Mondini, Scheibe, Michel, and Alexander forms (6). These anomalies are rare and result from a complete or partial failure of development of the inner ear structures during the first weeks of embryonic life (7, 8). Two different congenital anomalies, such as Mondini and Michel, may affect each ear of the same individual. Other congenital anomalies, such as congenital preauricular and cervical fistulas and renal anomalies (branchio-oto-renal syndrome) may be associated with inner ear anomalies (9, 10). Factors predisposing to these anomalies include exposure to thalidomide (11, 12), congenital cytomegalovirus infection (13), and genetic disorders (14). Some cases of Michel aplasia have been reported in association with tracheoesophageal (10), cardiac (11, 12), or extremity (7, 10, 15) malformations and with facial palsy (12).. Development of the inner ear ...
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: Branchio-Oto-renal syndrome; Branchio-otorenal dysplasia; branchiootorenal dysplasia; Melnick-Fraser syndrome (disorder)
Free Online Library: Coexisting first and bilateral second branchial fistulas in a child with nonfamilial branchio-otic syndrome.(ORIGINAL ARTICLE, Case study) by Ear, Nose and Throat Journal; Health, general Branchio-Oto-Renal syndrome Case studies Complications and side effects Fistula Care and treatment Diagnosis Risk factors Fistulas
IMPORTANT NOTE: This forum is not for queries that would otherwise be addressed to a doctor. If you have a question about your condition or treatment please consult your renal unit or doctor. We do not have any editorial or medical resources to answer individual queries ...
Genetic Heterogeneity of Branchiootorenal Syndrome See also BOR2 ({610896}), caused by mutation in the SIX5 gene ({600963}) on chromosome 19q13. {31:Sanchez-Valle et al. (2010)} stated that approximately 40% of patients with BOR have mutations in the EYA1 gene and 5% have mutations in the SIX5 gene. See also branchiootic (BO) syndrome-1 (BOS1; {602588}) and the otofaciocervical syndrome (OFC; {166780}), allelic disorders showing overlapping phenotypes but without renal anomalies. See also {600257} for a discussion of the BOR-Duane-hydrocephalus contiguous gene syndrome as described by {35:Vincent et al. (1994)}. Although {25:Melnick et al. (1978)} maintained that the BOR syndrome is distinct from the BO syndrome because in the latter condition renal anomaly is absent and deafness is not a constant feature, {6:Cremers and Fikkers-van Noord (1980)} concluded that the 2 syndromes are in fact a single entity ...
free MCQs and BOFs for MRCP 1 & 2 - "the biggest and best selection of MCQs and BOFs" Neurology4mrcp group provides free MCQs & BOFs in PDF format and are free to download, updated at regular intervals. Also check the useful links on "what to read for MRCP ...
I recently returned from JavaOne 2005 in San Francisco. The show was impressive for a number of reasons. The attendance seemed to be about 30% larger than last years. The same could be said for the number of tutorials, sessions and BOFs. For example, there were enough BOFs to run until 11:00pm at night.
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A preauricular sinus (also known as a congenital auricular fistula, a congenital preauricular fistula, a Geswein hole, an ear pit, or a preauricular cyst) is a common congenital malformation characterized by a nodule, dent or dimple located anywhere adjacent to the external ear. Frequency of preauricular sinus differs depending the population: 0.1-0.9% in the US, 0.9% in the UK, and 4-10% in Asia and parts of Africa. Comparative frequency is known to be higher in Africans and Asians than in Caucasians. Preauricular sinuses are inherited features, and most often appear unilaterally. They are present bilaterally in 25-50% of cases.[citation needed] Preauricular sinuses and cysts result from developmental defects of the first and second pharyngeal arches. This and other congenital ear malformations are sometimes associated with renal anomalies. They may be present in Beckwith-Wiedemann syndrome, and in rare cases, they may be associated with branchio-oto-renal syndrome.[citation needed] ...
Genetics Home Reference : 25 Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders ...
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Szalay, Gergely and Judák, Linda and Katona, Gergely and Ócsai, Katalin and Juhász, Gábor and Veress, Máté and Szadai, Zoltán and Fehér, András and Tompa, Tamás and Chiovini, Balázs and Maák, Pál and Rózsa, Balázs (2016) Fast 3D Imaging of Spine, Dendritic, and Neuronal Assemblies in Behaving Animals. NEURON, 92 (4). pp. 723-738. ISSN 0896-6273 Varga, Kata and Nagy, Péter and Arsikin Csordás, Katarina and Kovács L., Attila and Hegedűs, Krisztina and Juhász, Gábor (2016) Loss of Atg16 delays the alcohol-induced sedation response via regulation of Corazonin neuropeptide production in Drosophila. SCIENTIFIC REPORTS. pp. 1-30. ISSN 2045-2322 (In Press) Hegedűs, Krisztina and Takáts, Szabolcs and Boda, Attila and Jipa, András and Nagy, Péter and Varga, Kata and Kovács, Attila L and Juhász, Gábor (2016) The Ccz1-Mon1-Rab7 module and Rab5 control distinct steps of autophagy. Molecular biology of the cell, 27. pp. 1-13. ISSN 1939-4586 Nagy, Péter and Kovács, Laura and ...
With our dedicated customer support team, 30-day no-questions-asked return policy, and our price match guarantee, you can rest easy knowing that were doing everything we can to save you time, money, and stress.. ...
ŠVYTINČIOS ODOS RECEPTAS IŠ GAMTOS Dieninis kremas riebiai odai su beta endorfinų stimuliatoriais "Daily Intelligent Sebum-Solver SPF 25" Atidžiai atrinkti augaliniai ingredientai pasižymi įvairiapusišku poveikiu ir veikdami sinergiškai pagerina riebios ir probleminės odos būklę. Turi trejopą antiseborėjinį poveikį, padedantį sureguliuoti ir kontroliuoti riebalų išsiskyrimą: slopina fermentą, atsakingą už sebumo gamybą, sutraukia išsiplėtusias poras, sumažina bakterijų dauginimąsi. Valo odą nuo bakterijų išskiriamų toksinų. Pasižymi natūraliai sutraukiančiomis savybėmis, valo ir sutraukia poras, mažina inkštirų atsiradimą. Riebaluose tirpus vitaminas C, idealiai tinkantis riebiai odai, lengvai prasiskverbia ir taip užtikrina puikų priešuždegiminį ir antioksidacinį poveikį. Apsaugo nuo žalingų, senėjimą sukeliančių saulės spindulių, nepaliekant blizgesio ant odos. Beta - endorfinų stimuliatoriai - sukuria geros savijautos pojūtį, taip ...
Oligomeganephronia is a rare renal anomaly that leads to renal insufficiency in childhood or adolescence. It is morphologically characterized by a decreased number of nep..
Oligomeganephronia is a rare renal anomaly that leads to renal insufficiency in childhood or adolescence. It is morphologically characterized by a decreased number of nep..
A falusi turizmus ékes példája a Sárrét szívében meghúzódó saját étteremmel rendelkező Gémes Fogadó. Háborítatlan csend, friss levegő, madárcsicsergés, tájjellegű ételek és komfortos apartmanok - nagyjából így lehet jellemezni Nagyrábé hangulatát.
Tuska, Pál and Tóth, Balázs and Vásárhelyi, Gábor and Hangody, László and Papp, Miklós and Bodó, Gábor (2016) Evaluation of biomarkers following autologous osteochondral transplantation in the equine stifle joint - An experimental study. Acta Veterinaria Hungarica, 64 (2). pp. 164-178. ISSN 0236-6290 Bodó, Gábor and Vásárhelyi, Gábor and Hangody, László and Módis, László (2014) Mosaic arthroplasty of the medial femoral condyle in horses - An experimental study. Acta Veterinaria Hungarica, 62 (2). pp. 155-168. ISSN 0236-6290 Makra, Zita and Tuboly, Tamás and Bodó, Gábor (2013) Penetrating keratoplasty and graft rejection in eight horses. Acta Veterinaria Hungarica, 61 (2). pp. 160-174. ISSN 0236-6290 Dunay, Miklós and Németh, Tibor and Makra, Zita and Izing, Simon and Bodó, Gábor (2012) Laparoscopic cryptorchidectomy and ovariectomy in standing horses using the EnSeal® tissue-sealing device. Acta Veterinaria Hungarica, 60 (1). pp. 41-53. ISSN 0236-6290 Tóth, Péter ...
Shimmield, Graham (2004): Determination of the carbon and nitrogen system at station CD53_28#5. PANGAEA, https://doi.org/10.1594/PANGAEA.197294, In: Lowry, Roy K; Machin, P (2016): Compilation of the results of EU-project BOFS. PANGAEA, https://doi.org/10.1594/PANGAEA.859221
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La chef Salomé McKenzie de Lac Simon au Québec et le député Roméo Saganash, de lAbitibi-Baie James-Nunavik-Eeyou, ont rencontré James Anaya lors de sa visite au Canada. ...
Astronomy is the cool, sexy field of the scientific world. Sure, biologists and chemists are out there curing diseases or whatever, but theyre just so bor
A 49. évfolyamában járó MŰANYAG ÉS GUMI a szakterület egyetlen magyar nyelvű műszaki-tudományos folyóirata, évi 12 alkalommal 48 oldal terjedelemben, színes borítókkal és fotókkal, magyar, angol és német nyelvű tartalmi összefoglalókkal 1000 példányban jelenik meg.
Onsdagar, klockan 18-20. Om du vill ha tolk behöver du boka din tid minst tre vardagar i förväg.. När är det möjligt att testa sig?. Hivtestet mäter antikroppar. Det betyder att viruset kan upptäckas först efter att kroppen bildat antikroppar mot det. Hur lång tid det tar varierar från person till person, från ungefär två till åtta veckor. Vi rekommenderar att det har gått åtta veckor från att du tror du kan ha blivit smittad för att tester ska vara helt tillförlitligt.. Om du är akut orolig kan ett traditionellt blodprov vara bättre, då det kan upptäcka hiv vid ett tidigare stadium. Vill du veta vart du ska vända dig, kontakta oss.. CheckPoint Borås Sjuhärad nekar ingen som vill ta ett test, förutsatt att personen inte är påverkad av alkohol eller droger. Hellre ett test för mycket än ett test för lite.. Varför hivtest?. CheckPoint Borås Sjuhärad vill ge alla möjlighet att testa sig. Genom att veta din hivstatus kan du ta hand om din egen och andras hälsa. ...
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Nagy Fer , a Like tagjai, eredm nyes birk z k, t bbek k zt Hatos G bor, M dos P ter, De k B rdos Mih ly rzik gy, hogy szem ly kkel is fel kell h vniuk a figyelmet a v rad s fontoss g ra. Csatlakozz te is a v rad k t bor hoz s gazdagodj rt kes aj nd kokkal! - HungaroWellness - H rek, rdekess gek - Adj v rt a szt rokkal!
Chord diagram. The backbone chain is represented by a circle. Chords (arcs) connect those residues that are in contact. Structure elements can be removed from the above chord diagram by clicking on their symbols. In case of proteins for which it is possible to identify the secondary structure, symbols are given in the Stride classification (e.g. AH stands for "alpha-helix"). {{ pdb }} {{ chain }} ...
Dari hasil penelitian ini diperoleh data berat keausan pahat pada kecepatan 430 rpm, 545 rpm dan 700 rpm masing-masing sebesar 0,11gram, 0,13 gram dan 0,15 gram serta perubahan sudut mata pahat masing-masing 0,10,0,20 dan 0,30 serta parameter pemotongan untuk kecepatan 430 rpm, 545rpm dan 700 rpm besarnya daya, waktu pengeboran dan energy listrik dan volume tatal yang dihasilkan pada putaran 430 rpm,540 rpm dan 700 rpm masing-masing 220 watt,276 watt, 374 watt, 0,13 menit, 0,10 menit, 0.01 menit, 44x10-5kWH, 45 x 10-5 kWH, 63 x 10-5 kWH dan voleme tatal tiap menitnya masing-masing adalah 12.152 mm3 per menit, 15.402 mm3 per menit dan 19.782 mm3 per menit.. ...
The ORR is defined as the number of participants with a BOR of CR or PR divided by the number of treated participants. The BOR is defined as the best response designation, as determined by the investigator, recorded between the date of randomization and the date of objectively documented progression per RECIST 1.1 or the date of first subsequent anti-cancer therapy including radiotherapy, tumor-directed surgery, or systemic anticancer therapy, whichever occurs first. For participants without documented progression or subsequent therapy, all available response designations will contribute to the BOR ...
A Rubicon t rt nelmi foly irat honlapja. A tartalma szerint tudom nyos ismeretterjeszt foly irat magazinszer en n pszer s ti a t rt nelmet. Ahogy az iskol ban nem hallhatta...
An annual erect finely viscid-pubescent much-branched herb, with narrow entire or few-toothed leaves, and small blue flowers in loose axillary cymes. Calyx broadly campanulate, 10 - nerved, nearly equ...
All rights reserved © 2007, Hungarian Doctoral Council. Doctoral Council registration number at commissioner for data protection: 02003/0001. Program version: 2.2358 ( 2017. X. 31 ...
Rastlina: Georgína * Dahlia Leo - cubuľovina, hľúzovitá r., listy protistojné, nepárno perovito zložený, kvetenstvo úbor, plody nažky, záhonová
I tarmen bor det billioner av bakterier, dette er kroppens tarmflora og bakteriene lever i symbiose med oss. Tarmfloraen består også av andre mikroorganismer som gjær og virus. Tarmfloraen påvirker blant annet atferd, kognitive funksjoner, metabolisme og immunforsvaret. Tarmfloraens innvirkning på kroppen er en av grunnene til at tarmen kalles den andre hjernen. Mengde og…
Branchiooculofacial syndrome (BOFS; MIM 113620) is an autosomal dominant developmental disorder characterized by cutaneous defects in the cervical or infra- and/or supra-auricular region, lacrimal duct obstruction, and ocular anomalies such as microphthalmia or anophthalmia, coloboma, ptosis and cataract. Craniofacial features include cleft or pseudocleft lip/palate, dolichocephaly, malformed pinnae, low set ears and broad nasal tip. Additional findings may include inner ear malformations, temporal bone anomalies, conductive, mixed or sensorineural hearing loss, ectopic dermal thymus and various ectodermal anomalies. Growth deficiency, renal anomalies and mild mental retardation are less frequent findings. Intrafamilial clinical variability may be marked. To date, genetic heterogeneity has not been reported. BOFS is caused by mutations in the TFAP2A gene. It codes for transcription factor AP-2-alpha protein, which is a sequence-specific DNA-binding protein that interacts with inducible viral and ...
14.00 - 20:00 Tisztelg l ssorozat. Helysz n : PTE OK, Elm leti t mb, IV. emelet, 401. szemin riumi terem (SZE4-401). l seln k k: Pesti Mikl s s Sz cs Gy rgy. 14:00 - 14:10 Pesti Mikl s: K sz nt s, bevezet gondolatok. 14:10- 14:25 Urb n P ter, Kov cs-Valasek Andrea, Naorem Romen, Czuni Lilla, Papp G bor, Gazdag Zolt n. Fekete Csaba: Az NGS-technol gia a mikrobi lis genomikai kutat sok szolg lat ban. 14:25 - 14:40 Czuni Lilla, Urb n P ter, Papp G bor, G czi Fanni, Fekete Csaba, V gv lgyi Csaba, Kocsis B la, Gazdag Zolt n: Candida izol tumok vorikonazol rezisztenci j nak s oxido-redukci s llapot nak vizsg lata. 14:40 - 14:55 Kurn sz Hedvig Dalma, Urb n P ter, Bouchelaghem Sarra, Mesz na R ka, Fekete Csaba, Nagy D vid, Papp G bor: Magyarorsz gi propolisz mint k bakteri lis k z ss geinek metagenomikai alap sszehasonl t vizsg lata. 14:55 - 15:10 Jakab Ferenc: A globaliz ci hat sa a fert z betegs gek terjed s ben - jabb ir nyok, nagyobb kih v sok a kutat ...
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This is in response to an offer to provide an unstained slide of a tissue required for the BOR exam (HT or HTL): It was my understanding a year and a half ago that the person taking the exam was required to process, embed, and section the tissue his- or herself. I was in the same boat, needing uterus, and two very kind Histonetters sent me the wet, formalin-fixed tissue. I then trimmed it to the appropriate size and did all the steps myself. Isnt this what the practical is for? While the exam can be a stressful experience, those of us who have completed the process can and should be justly proud of our accomplishment and what it means professionally. We should seek to defend the integrity of the process, and those in the middle of the process should defend it also, so as not to dilute its meaning. My comments are not to be construed as accusatory towards anyone in this discussion, just a reminder that kindness and helpfulness can be taken too far in certain situations. Regards - Carol ...
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The Nordic Association for Intensive Care Nursing Research (NOFI) had their yearly meeting at Rikshospitalet in Copenhagen 13-14th of April 2016.The theme for the conference was "Wellbeing and intensive care". For more information and membership please see NOFIs website. ...
P ter H. M ria: Magyar nyelv gy gyszer szk pz s Erd lyben; T rt neti ttekint s a rom niai magyar nyelv gy gyszer szeti irodalomr l (R cz G borral egy tt); Erd lyi gy gyszer szeti foly iratok a m sodik vil gh bor ut n; A rom niai kisebbs gi orvosok egyes letei; Az Erd lyi M zeum-Egyes let v ndorgy l sei az orvostov bbk pz s szolg lat ba; A marosv s rhelyi Orvosi s Gy gyszer szeti Int zet magyar nyelv jegyzetei. In: Tank Attila, P ter Mih ly (szerk.): Genersich Antal Eml kk nyv sz let s nek 150. vfordul ja alkalm b l - Adatok a rom niai magyar orvosok s gy gyszer szek munk ss g r l. Budapest-Marosv s rhely, 1994, p. 99-105, 124-128, 150-152, 153-160, 161-167, 188-199 ...
Presser G bor ak r a Ford Focus kompakt egyter k tliteres, turb d zel motorral felszerelt v ltozat r l is rhatta volna a c mben szerepl sl ger t. A C-MAX ugyanis remek hossz t v
Odlagalište rudarskog otpada Oštreljski Planir formirano je odlaganjem jalovine sa površinskog kopa Bor u periodu od 1975. do 1980. godine. Cilj rada bio je da se primenom rendgensko-fluorescentne analize (XRF) i rendgensko difrakcione analize na prahu (XRD) utvrdi hemijski i fazni sastav osam proizvoljno odabranih uzoraka sa Ošreljskog planira i izvrši poređenje rezultata dobijenih primenom ovih metoda. Utvrđeno je da se sadržaj bakra u uzorcima sa odlagališta kretao u rasponu od 0,017 % do 41,77 %. U uzorcima 1, 2, 3 i 4 detektovaní su minerali bakra (kovelin, halkopirit i enargit), dok u uzorcima 5, 6, 7 i 8 minerali bakra nisu detektovani. U analiziranim uzorcima osim navedenih minerala bakra, identifikovani su i sledeći minerali jalovine: kvarc, albit, dikit, gips, siderit i pirit. Koeficijent korelacije između rezultata XRD i XRF analize blizak je jedinici (R2= 0,9821), što ukazuje na dobro slaganje rezultata ...
Marianne Cheveau, 2010. Effets multiscalaires de la fragmentation de la for t par l am nagement forestier sur la martre d Am rique en for t bor ale de l est du Canada. Th se de doctorat en sciences de lEnvironnement, Universit du Qu bec en Abitibi-T miscamingue. 226 p ...
Drosophila, Dynein, Efficiency, Engineering, Light, Microinjection, Microscopy, Microtubule, Movement, Nanoparticles, Nanotechnology, Oocyte, Oocytes, Proteins, Time
dry weather agg. : Acon., ars., Asar., bell., bor., bry., carb-an., carb-v., Caust., cham., crot-h., Hep., ip., Kali-c., laur., mag-c., mez., mur-ac., Nux-v., rhod., sabad., sep., sil., spig., spong., staph., sulph., zinc.. ++ heat and cold : Alum., ant-c., ars-i., carb-s., caust., cinnb., cocc., Fl-ac., graph., ip., kali-c., lach., lyc., mag-m., merc., nat-c., nat-m., ph-ac., psor., puls., ran-b., sep., sil., sulph.. ++ place, entering a, agg. : Ars., calc-p., carb-v., caust., con., dulc., ferr-ar., ferr., graph., hep., Kali-ar., kali-c., kali-p., mosch., nux-m., nux-v., petr., phos., psor., puls., Ran-b., rhus-t., sabad., Sep., sil., spong., stront., tub., verb.. ++ tendency to take : Acon., Alum., am-c., am-m., anac., ant-c., ant-t., arg-n., arn., ars-i., ars., Bar-c., bell., bor., Bry., Calc-p., calc-s., calc., camph., carb-s., carb-v., caust., Cham., chin-a., chin., coc-c., cocc., coff., coloc., con., croc., cupr., dig., dios., Dulc., ferr-ar., ferr-i., ferr-p., ferr., form., gels., goss., ...
Dosis: 5g Borax -| 1 l chlorfreies Wasser -| Borwasser Max: 20ml/Tag = 100mg Borax = 10mg Bor = 3 TL Borwasser Min: 6 ml/Tag = 30mg Borax = 3 mg Bor = 1 TL Borwasser Inhalt Metastudie Klimakterium Vitamin D Mangel Osteoporose Wundheilung Arteriosklerose Osteoarthritis Entzündungen Nervenschwäche Schwermetallvergiftung Prostatakrebs Neurodermitis Sehnenverletzungen Oxydativer Stress Metastudie…
Takker Fandt den selv lidt senere. Så lad os mødes og værre rigtigt frække med hinanden hvad siger du jeg bor i Hvidovre Lars Posted On: Efter en times tid var vi helt færdige og tog et bad sammen.
Københavns Kommune Danskuddannelse for udlændinge i København Den treårige uddannelsesperiode Denne pjece henvender sig til udlændinge, der bor i København, og som enten: Skal i gang med den treårige danskuddannelse
Jafar Mahdavi, Pierre-Joseph Royer, Hong S. Sjölinder, Sheyda Azimi, Tim Self, Jeroen Stoof, Lee M. Wheldon, Kristoffer Brännström, Raymond Wilson, Joanna Moreton, James W. B. Moir, Carina Sihlbom, Thomas Borén, Ann-Beth Jonsson, Panos Soultanas, Dlawer A. A. AlaAldeen ...
Secret Garden Resort in Bor Sang, Chiang Mai, offers a family friendly bungalow style environment with swimming pool and clean accommodation.
Secret Garden Resort in Bor Sang, Chiang Mai, offers a family friendly bungalow style environment with swimming pool and clean accommodation.
Melica Linn., Sp. Pl. 1:66. 1753. Boiss., Fl. Or. 5:584. 1884; Hook.f., Fl. Brit. Ind. 7:329. 1896; Rozhev. & Shishkin in Kom., Fl. URSS 2:340. 1934; Ovchinnikov, Fl. Tadzh. 1:217. 1957; Sultan & Stewart, Grasses W. Pak. 2:165. 1959; Bor, Grasses Burma Ceyl. Ind. Pak. 589. 1960; Bor in Towns., Guest & Al-Rawi, Fl. Iraq 9:270. 1968; Bor in Rech.f., Fl. Iran. 70:249. 1970; Tzvelev, Poaceae URSS 547. 1976; Tutin in Tutin et al., Fl. Eur. 5:178.1980. Spikelets 2-several-flowered, the lower 1-3 florets fertile, the upper 2-3 sometimes reduced to a clavate mass of sterile lemmas or these scarcely distinguishable from the fertile; glumes ± unequal, firmly membranous or sometimes with broad hyaline margins, 3-5-nerved, rounded on the back, becoming hardened, 5-9(-13)-nerved, the nerves sometimes obscure, entire, awnless.. A genus of about 60 species in warm temperate regions except Australia; 5 species occur in Pakistan.. ...
Milics, Gábor / Kovács, Attila J. / Pörneczi, Attila / Nyéki, Anikó / Varga, Zoltán / Nagy, Viliam / Lichner, Ľubomír / Németh, Tamás / Baranyai, Gábor / Neményi, Miklós ...
Duray GZ, Ritter P, El-Chami M, Narasimhan C, Omar R, Tolosana JM, Zhang S, Soejima K, Steinwender C, Rapallini L, Cicic A, Fagan DH, Liu S, Reynolds D: Long-term performance of a transcatheter pacing system: 12-Month results from the Micra Transcatheter Pacing Study., HEART RHYTHM 14: (5) pp. 702-709 ...
A hegz r d st k vetoen vagy horzsol sokra- tod sekre hat kony h mregener ci t t mogat , hidrat l bioakt v komplex, amely az rz keny bor t pl l s ra szolg l s a bor megfelelo higi n s llapot nak kialak t s t seg ti.,Alkalmaz sa: V kony r tegben permete
S cieľom zabezpečiť riadne fungovanie tejto webovej stránky ukladáme niekedy na vašom zariadení malé dátové súbory, tzv. cookie. Je to bežná prax väčšiny veľkých webových lokalít. Súbor cookie je malý textový súbor, ktorý webová lokalita ukladá vo vašom počítači alebo mobilnom zariadení pri jej prehliadaní. Vďaka tomuto súboru si webová lokalita na určitý čas uchováva informácie o vašich krokoch a preferenciách (ako sú prihlasovacie meno, jazyk, veľkosť písma a iné nastavenia zobrazovania), takže ich pri ďalšej návšteve lokality alebo prehliadaní jej jednotlivých stránok nemusíte opätovne uvádzať.. Súbory cookies sa ukladajú do počítača užívateľa, aby mu umožnili prístup k rôznym funkciám. Súbory cookies používame na zvýšenie efektivity Vašich návštev na našej webovej stránke. Súbory cookies používame na účely zapamätania predvolieb prehľadávania a to napríklad veľkosti textu, uprednostňovaného jazyka, ...
Hei, jeg heter Viggo Ursfjord. Jeg bor i Malangen i Troms. Denne bloggen vil i første rekke bestå av bilder fra hagen min, men det kan hende at jeg legger ut noe fra turer i området her også ...

Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities | Journal of Medical...Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities | Journal of Medical...

Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities ... Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities ... Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. Am J Med Genet2000 ... Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. Clin ...
more infohttp://jmg.bmj.com/content/39/1/71

Branchio-oto-renal syndrome | definition of branchio-oto-renal syndrome by Medical dictionaryBranchio-oto-renal syndrome | definition of branchio-oto-renal syndrome by Medical dictionary

What is branchio-oto-renal syndrome? Meaning of branchio-oto-renal syndrome medical term. What does branchio-oto-renal syndrome ... Looking for online definition of branchio-oto-renal syndrome in the Medical Dictionary? branchio-oto-renal syndrome explanation ... Synonym(s): BOR syndrome, branchio-oto-renal dysplasia. branchio-oto-renal syndrome. [brang′kē·ō·ō′tō·rē′nəl] Etymology: Gk, ... branchio-oto-renal syndrome. Also found in: Wikipedia. branchio-oto-renal syndrome. an autosomal dominant disorder manifested ...
more infohttps://medical-dictionary.thefreedictionary.com/Branchio-Oto-Renal+Syndrome

Branchio-oto-renal syndrome - WikipediaBranchio-oto-renal syndrome - Wikipedia

The disease may then be termed Branchio-oto Syndrome (BO syndrome). The cause of branchio-oto-renal syndrome are mutations in ... Branchio-oto-renal syndrome (BOR), also known as branchiootorenal syndrome or BOR syndrome, is an autosomal dominant genetic ... It often has also been described as Melnick-Fraser syndrome. The symptoms and/or signs of branchio-oto-renal syndrome are ... The treatment of branchio-oto-renal syndrome is done per each affected area (or organ). For example, a person with hearing ...
more infohttps://en.wikipedia.org/wiki/Branchio-oto-renal_syndrome

Branchio-Oto-Renal Syndrome Subpanel - Sema4Branchio-Oto-Renal Syndrome Subpanel - Sema4

Branchio-oto-renal (BOR) syndrome is characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive ... The Branchio-Oto-Renal Subpanel includes three genes. Our customizable targeted next-generation sequencing (NGS) panel uses ... Branchio-Oto-Renal Syndrome Subpanel Branchio-Oto-Renal Syndrome Subpanel. a.download::before { color: #00AEEF; font-family: " ... hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations. BOR sydrome is ...
more infohttps://sema4.com/products/test-catalog/branchio-oto-renal-syndrome-subpanel/

General - BRANCHIO-OTO-RENAL SYNDROME, BOR SYNDROME, BRANCHIOOTORENAL SYNDROME, BRANCHIO OTO RENAL SYDROME - The Cain FoundationGeneral - BRANCHIO-OTO-RENAL SYNDROME, BOR SYNDROME, BRANCHIOOTORENAL SYNDROME, BRANCHIO OTO RENAL SYDROME - The Cain Foundation

We have found that there is very little information regarding Branchio-Oto-Renal Syndrome, so our hope of starting this website ... who was diagnosed with Branchio-Oto-Renal Syndrome shortly after birth in 2003. ...
more infohttp://www.thecainfoundation.com/bor/site/Forum/tabid/58/forumid/1/scope/threads/noreply/1/currentpage/3/Default.aspx

Kidneys - General - BRANCHIO-OTO-RENAL SYNDROME, BOR SYNDROME, BRANCHIOOTORENAL SYNDROME, BRANCHIO OTO RENAL SYDROME - The Cain...Kidneys - General - BRANCHIO-OTO-RENAL SYNDROME, BOR SYNDROME, BRANCHIOOTORENAL SYNDROME, BRANCHIO OTO RENAL SYDROME - The Cain...

We have found that there is very little information regarding Branchio-Oto-Renal Syndrome, so our hope of starting this website ... who was diagnosed with Branchio-Oto-Renal Syndrome shortly after birth in 2003. ... I have read about people developing kidney problems later in life and it had been misdiagnosed as BOR syndrome which makes me ...
more infohttp://www.thecainfoundation.com/bor/site/Forum/tabid/58/forumid/1/postid/59/scope/posts/Default.aspx

Branchio-oto-renal dysplasia | Radiology Reference Article | Radiopaedia.orgBranchio-oto-renal dysplasia | Radiology Reference Article | Radiopaedia.org

Branchio-oto-renal (BOR) dysplasia is a rare syndromic disorder characterized by: otic malformations can involve the outer, ... Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene. Clin. Nephrol. 2011;76 (4): 330-3. Clin. ... Branchio-oto-renal syndrome. Am. J. Med. Genet. A. 2007;143A (14): 1671-8. doi:10.1002/ajmg.a.31561 - Pubmed citation. ... 4. Smith RJ, Schwartz C. Branchio-oto-renal syndrome. J Commun Disord. 31 (5): 411-20. J Commun Disord (link) - Pubmed citation ...
more infohttps://radiopaedia.org/articles/branchio-oto-renal-dysplasia?lang=us

002588 - C3HeB/FeJ-Eya1|bor|/J002588 - C3HeB/FeJ-Eya1|bor|/J

The phenotype of Eya1bor/Eya1bor mice parallels that of the human Branchio-Oto-Renal Syndrome and both are thought to result ... The human Branchio-Oto-Renal Syndrome is generally a dominant disorder with incomplete penetrance and variable expressivity ... A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene ... Nevertheless, homozygous mice with this hypomorphic allele offer a good model for Branchio-Oto-Renal Syndrome. ...
more infohttps://www.jax.org/strain/002588

SALL1 - WikipediaSALL1 - Wikipedia

Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as branchio-oto-renal syndrome (BOR). Two transcript ... Engels S, Kohlhase J, McGaughran J (Jun 2000). "A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype". Journal ... GeneReviews/NCBI/NIH/UW entry on Townes-Brocks Syndrome Nishinakamura R, Takasato M (Nov 2005). "Essential roles of Sall1 in ... Surka WS, Kohlhase J, Neunert CE, Schneider DS, Proud VK (Aug 2001). "Unique family with Townes-Brocks syndrome, SALL1 mutation ...
more infohttps://en.wikipedia.org/wiki/SALL1

A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome | BMC Medical Genetics | Full TextA novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome | BMC Medical Genetics | Full Text

... syndrome is a dominant autosomal disorder characterized by phenotypes such as hearing loss, branchial fistulae, preauricular ... pits, and renal abnormalities. EYA1, the human homolog of the Drosophila ... Wang, Y., Sun, S., Qiu, Y. et al. A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome. BMC Med Genet ... A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome. *Yan-gong Wang1. na1, ...
more infohttps://0-bmcmedgenet-biomedcentral-com.brum.beds.ac.uk/articles/10.1186/s12881-018-0653-2

A <i>de novo</i> and novel mutation in the <i>EYA1</i> gene in a Chinese child with...A <i>de novo</i> and novel mutation in the <i>EYA1</i> gene in a Chinese child with...

A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome ... Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchial cleft fistulae or cysts, ... Mutations in the human homologue of the Drosophila eyes absent gene (EYA1) are the most common cause of BOR syndrome. PCR and ... The patient was a child who displayed clinical features of BOR syndrome. Analysis of mutations in the EYA1 gene revealed a ...
more infohttps://www.jstage.jst.go.jp/article/irdr/7/1/7_2017.01075/_article

Category:Syndromes - Wikimedia CommonsCategory:Syndromes - Wikimedia Commons

Blau syndrome‎ (2 F). *. ► Branchio-oto-renal syndrome‎ (5 F). *. ► Budd-Chiari syndrome‎ (1 C) ... Media in category "Syndromes". The following 10 files are in this category, out of 10 total. ... Retrieved from "https://commons.wikimedia.org/w/index.php?title=Category:Syndromes&oldid=309817629" ...
more infohttps://commons.wikimedia.org/wiki/Category:Syndromes

Shastri A[au] - PubMed - NCBIShastri A[au] - PubMed - NCBI

Branchio-oto-renal syndrome with obstructive sleep apnoea.. Chavan A, Shastri AR, Ross-Russell RI. ... Myelodysplastic Syndrome and Sweets Syndrome Are Associated with a Mutation in Isocitrate Dehydrogenase 1. ... Pexmetinib: A Novel Dual Inhibitor of Tie2 and p38 MAPK with Efficacy in Preclinical Models of Myelodysplastic Syndromes and ... Tumor Lysis Syndrome in an Unusual Metastatic Pancreatic Neuroendocrine Tumor with Ectopic ACTH Secretion. ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Shastri+A%5Bau%5D&dispmax=50

branchiootorenal syndrome Disease Ontology Browser - DOID:14702branchiootorenal syndrome Disease Ontology Browser - DOID:14702

Synonyms: Branchio-Oto-renal syndrome; Branchio-otorenal dysplasia; branchiootorenal dysplasia; Melnick-Fraser syndrome ( ... branchiootorenal syndrome (DOID:14702) Alliance: disease page Synonyms: Branchio-Oto-renal syndrome; Branchio-otorenal ... Human Disease Modeled: branchiootorenal syndrome. Associated Mouse Gene: Eya1 Allelic Composition. Genetic Background. ... Human Disease Modeled: branchiootorenal syndrome. Associated Mouse Gene: Six1 Allelic Composition. Genetic Background. ...
more infohttp://www.informatics.jax.org/disease/DOID:14702

branchiootorenal syndrome Disease Ontology Browser - DOID:14702branchiootorenal syndrome Disease Ontology Browser - DOID:14702

Synonyms: Branchio-Oto-renal syndrome; Branchio-otorenal dysplasia; branchiootorenal dysplasia; Melnick-Fraser syndrome ( ... branchiootorenal syndrome (DOID:14702) Alliance: disease page Synonyms: Branchio-Oto-renal syndrome; Branchio-otorenal ... Human Disease Modeled: branchiootorenal syndrome. Associated Mouse Gene: Eya1 Allelic Composition. Genetic Background. ... Human Disease Modeled: branchiootorenal syndrome. Associated Mouse Gene: Six1 Allelic Composition. Genetic Background. ...
more infohttp://www.informatics.jax.org/disease/610896

nature.com searchnature.com search

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene ... gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family . Opens in a new window. ... Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic ... is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia) . Opens in a new window. ...
more infohttp://www.nature.com/search?author=%22Delphine%20Samson%22&error=cookies_not_supported&code=dfa4d1b8-75c5-4378-a098-f1fdafc33260

Williams LE[au] - PubMed - NCBIWilliams LE[au] - PubMed - NCBI

Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports. ... MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques.. Brammer DW, Gillespie PJ, Tian M, Young D, ... Mismatch repair gene mutations lead to lynch syndrome colorectal cancer in rhesus macaques. ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Williams+LE%5Bau%5D&dispmax=50

Lachiewicz-Sibley syndrome - WikipediaLachiewicz-Sibley syndrome - Wikipedia

Unlike branchio-oto-renal (BOR) syndrome, Lachiewicz-Sibley syndrome is characterized by only preauricular pitting and renal ... Branchio-oto-renal syndrome sciencedirect[dead link] Lachiewicz AM, Sibley R, Michael AF (June 1985). "Hereditary renal disease ... Lachiewicz-Sibley syndrome is a rare autosomal dominant disorder characterized by preauricular pits and renal disease. Persons ... Persons with BOR syndrome also present with hearing loss, branchial fistulas or cysts, malformed ears, and lacrimal stenosis. ...
more infohttps://en.wikipedia.org/wiki/Lachiewicz%E2%80%93Sibley_syndrome

Page 184 - 30917 ASHG CompletePage 184 - 30917 ASHG Complete

... branchio-oto-renal,syndrome.,Sun,,Taylor,,Kramer,,Graham.,952W,Inherited,systemic,hyalinosis:,mutatio,association,marked,alpha- ... syndrome,Mexican,famil,Hernandez-Gomez,,Juár,950W,Velocardiofacial,Juarez-Garcia,,Castillo,Lorca,,951W,Novel,locus,identified, ... syndrome:,Report,new,case.,Hernandez,Gomez,,Hernández,Gómez,,Juárez,García,,Gómez,Torres.,949W,Otofaciocervical, ...
more infohttp://www.ashg.org/2011meeting/program_guide/files/assets/seo/page185.html

Microtia-Associated Syndromes | Springer for Research & DevelopmentMicrotia-Associated Syndromes | Springer for Research & Development

Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet. 1995;58(4):365-70.PubMedCrossRefGoogle Scholar ... Branchio-oto-renal syndrome. Am J Med Genet A. 2007;143a(14):1671-8.PubMedCrossRefGoogle Scholar ... A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene ... CHARGE syndrome. Part I. external ear anomalies. Int J Pediatr Otorhinolaryngol. 1986;12(2):137-43.PubMedCrossRefGoogle Scholar ...
more infohttps://rd.springer.com/chapter/10.1007%2F978-3-030-16387-7_4

Ear deformity - RightDiagnosis.comEar deformity - RightDiagnosis.com

Branchio-Oto-Renal Syndrome ... cupped ears*Branchiootic syndrome ... cup-shaped ears*Branchiootic syndrome 1 ... cup-shaped ... Jacobsen syndrome ... abnormal ear shape. K. *Kasznica-Carlson-Coppedge syndrome ... abnormal ears. L. *Laband Syndrome ... ... Burn-McKeown syndrome ... abnormal ears. C. *Cardiocranial syndrome ... abnormal ears*Cat Eye Syndrome ... absent ear canal* ... Finlay-Markes syndrome ... cupped ears*Fraser Syndrome ... cupped ears*Fryns Syndrome ... abnormal ear shape. G. *German ...
more infohttps://www.rightdiagnosis.com/sym/ear_deformity.htm

Branchiootorenal syndrome             | Genetic and Rare Diseases Information Center (GARD) - an NCATS ProgramBranchiootorenal syndrome | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program

... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Branchiootorenal syndrome ... Branchio oto renal syndrome; Branchiootorenal dysplasia; Melnick-Fraser syndrome; Branchio oto renal syndrome; BOR syndrome See ... Branchiootorenal syndrome Title Other Names:. Branchiootorenal dysplasia; Melnick-Fraser syndrome; ... syndrome. may be inherited. or occur sporadically. The inheritance pattern of branchiootorenal syndrome is autosomal dominant. ...
more infohttps://rarediseases.info.nih.gov/diseases/10147/branchiootorenal-syndrome

Multicystic Renal Dysplasia Follow-up: Further Outpatient Care, Deterrence/Prevention, ComplicationsMulticystic Renal Dysplasia Follow-up: Further Outpatient Care, Deterrence/Prevention, Complications

... a variant of renal dysplasia, is one of the most frequently identified congenital anomalies of the urinary tract. This article ... Widdershoven J, Monnens L, Assmann K, Cremers C. Renal disorders in the branchio-oto-renal syndrome. Helv Paediatr Acta. 1983 ... SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A. 2004 May ... Brief clinical report: renal hypodysplasia and unilateral ovarian agenesis in the penta-X syndrome. Am J Med Genet. 1980. 6(2): ...
more infohttps://emedicine.medscape.com/article/982560-followup

Coexisting first and bilateral second branchial fistulas in a child with nonfamilial branchio-otic syndrome. - Free Online...Coexisting first and bilateral second branchial fistulas in a child with nonfamilial branchio-otic syndrome. - Free Online...

... general Branchio-Oto-Renal syndrome Case studies Complications and side effects Fistula Care and treatment Diagnosis Risk ... Coexisting first and bilateral second branchial fistulas in a child with nonfamilial branchio-otic syndrome.(ORIGINAL ARTICLE, ... 5 were associated with either branchio-otic syndrome or branchio-oto-renal syndrome; 2 patients had familial branchio-otic ... 5 were associated with either branchio-otic syndrome or branchio-oto-renal syndrome; 2 patients had familial branchio-otic ...
more infohttps://www.thefreelibrary.com/Coexisting+first+and+bilateral+second+branchial+fistulas+in+a+child+...-a0338415431

Gene Markers - Gene Expression LabGene Markers - Gene Expression Lab

Branchio-oto-renal syndrome has another major project of the laboratory. One gene has been located on chromosome 8. ... A major focus of the research program has been on Usher syndrome. Eleven different Usher genes have been discovered; one has ...
more infohttps://www.boystownhospital.org/research/sensory-neuroscience/gene-expression/gene-markers
  • The auditory phenotype in Stickler syndrome is inconsistently reported. (biomedcentral.com)
  • Subsequently, hearing impairment has commonly been reported as a symptom of Stickler syndrome, though detailed descriptions are scarce and few studies are primarily focused on the auditory phenotype. (biomedcentral.com)
  • The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure. (wikipedia.org)
  • In some individuals and families, renal features are completely absent. (wikipedia.org)
  • This fetus has bilaterally absent kidneys consistent with a diagnosis of Potter syndrome. (medscape.com)
  • Some feel that Potter's sequence is more appropriate terminology since not every individual with the syndrome has exactly the same set of symptoms and signs but rather they share a common chain of events, triggered by different causes, leading to the same endpoint of reduced or absent amniotic fluid. (patient.info)
  • Similar to CFEOM, Duane syndrome falls under the larger heading of strabismus (misalignment of the eyes) under the subclassification of incomitant strabimsus (misalignment of the eyes which varies with gaze directions) and subheading of extraocular muscle fibrosis syndromes (conditions associated with restriction of both active and passive movement of the eyeball). (childrenshospital.org)
  • Duane syndrome is often clinically subdivided into three types: 1-3. (childrenshospital.org)
  • The cystic structures in the renal fossae are most likely the adrenal glands. (medscape.com)
  • Hydronephrosis - Dilation of pelvis with or without dilation of calyces or loss of renal parenchyma. (clinicaladvisor.com)
  • Executive Director, Alport Syndrome Treatments and Outcomes Registry, for assistance in the preparation of this report. (rarediseases.org)
  • People diagnosed with TBMN have persistent microscopic blood in the urine (hematuria) in a similar pattern as seen in individuals with Alport syndrome. (rarediseases.org)
  • Differentiating Alport syndrome and TBMN can be challenging, especially in young patients and in women. (rarediseases.org)
  • October is celebrated as the month of Hearing Loss Awareness which is the perfect time to check the effect of Alport syndrome on your hearing. (hearingsol.com)
  • Alport syndrome can also be responsible for causing hearing loss although some patients may not be affected. (hearingsol.com)
  • In Alport syndrome, hearing loss is not complete. (hearingsol.com)
  • In people with Alport syndrome, the collagen makeup of the basement membranes of the cochleas or inner ears is abnormal. (hearingsol.com)
  • Renal cell carcinoma was reported in 13 patients at an average age of 39 years, and an embryonal tumor was reported in a 68-year-old patient. (medscape.com)