Williams Syndrome: A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.Aortic Stenosis, Supravalvular: A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.Syndrome: A characteristic symptom complex.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.ElastinFacies: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)Lim Kinases: Serine protein kinases involved in the regulation of ACTIN polymerization and MICROTUBULE disassembly. Their activity is regulated by phosphorylation of a threonine residue within the activation loop by intracellular signaling kinases such as P21-ACTIVATED KINASES and by RHO KINASE.Personal Construct Theory: A psychological theory based on dimensions or categories used by a given person in describing or explaining the personality and behavior of others or of himself. The basic idea is that different people will use consistently different categories. The theory was formulated in the fifties by George Kelly. Two tests devised by him are the role construct repertory test and the repertory grid test. (From Stuart Sutherland, The International Dictionary of Psychology, 1989)Nervous System Malformations: Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Face: The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)Cardiovascular Abnormalities: Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.History, 19th Century: Time period from 1801 through 1900 of the common era.Perceptual Disorders: Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.Creativity: The ability to generate new ideas or images.Intelligence: The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions.Abnormalities, MultipleIn Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.History, 17th Century: Time period from 1601 through 1700 of the common era.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)Forehead: The part of the face above the eyes.Cheek: The part of the face that is below the eye and to the side of the nose and mouth.Tennis: A game played by two or four players with rackets and an elastic ball on a level court divided by a low net.Venus: The second planet in order from the sun. It has no known natural satellites. It is one of the four inner or terrestrial planets of the solar system.Sjogren's Syndrome: Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.Droseraceae: A plant family of the order Nepenthales, subclass Dilleniidae, class Magnoliopsida, notable for leaves with sticky gland-tipped hairs that entrap insects.Xerophthalmia: Dryness of the eye surfaces caused by deficiency of tears or conjunctival secretions. It may be associated with vitamin A deficiency, trauma, or any condition in which the eyelids do not close completely.Sadism: A condition in which there is a derivation of pleasure from inflicting pain, discomfort or humiliation on another person or persons. The sexual significance of sadistic wishes or behavior may be conscious or unconscious.Folklore: The common orally transmitted traditions, myths, festivals, songs, superstitions, and stories of all peoples.Literature, ModernMaps as Topic: Representations, normally to scale and on a flat medium, of a selection of material or abstract features on the surface of the earth, the heavens, or celestial bodies.BooksBlood Vessels: Any of the tubular vessels conveying the blood (arteries, arterioles, capillaries, venules, and veins).Aortic Valve Stenosis: A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.Pulmonary Valve Stenosis: The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.Constipation: Infrequent or difficult evacuation of FECES. These symptoms are associated with a variety of causes, including low DIETARY FIBER intake, emotional or nervous disturbances, systemic and structural disorders, drug-induced aggravation, and infections.Hypercalcemia: Abnormally high level of calcium in the blood.United StatesSocial Media: Platforms that provide the ability and tools to create and publish information accessed via the INTERNET. Generally these platforms have three characteristics with content user generated, high degree of interaction between creator and viewer, and easily integrated with other sites.Education, Special: Education of the individual who markedly deviates intellectually, physically, socially, or emotionally from those considered to be normal, thus requiring special instruction.MichiganSocial Behavior: Any behavior caused by or affecting another individual, usually of the same species.Faculty, Medical: The teaching staff and members of the administrative staff having academic rank in a medical school.Blogging: Using an INTERNET based personal journal which may consist of reflections, comments, and often hyperlinks.PubMed: A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.Follow-Up Studies: Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.Periodicals as Topic: A publication issued at stated, more or less regular, intervals.Minoxidil: A potent direct-acting peripheral vasodilator (VASODILATOR AGENTS) that reduces peripheral resistance and produces a fall in BLOOD PRESSURE. (From Martindale, The Extra Pharmacopoeia, 30th ed, p371)Elastic Tissue: Connective tissue comprised chiefly of elastic fibers. Elastic fibers have two components: ELASTIN and MICROFIBRILS.Speech Therapy: Treatment for individuals with speech defects and disorders that involves counseling and use of various exercises and aids to help the development of new speech habits.Occupational Therapy: Skilled treatment that helps individuals achieve independence in all facets of their lives. It assists in the development of skills needed for independent living.Physical Therapy Modalities: Therapeutic modalities frequently used in PHYSICAL THERAPY SPECIALTY by PHYSICAL THERAPISTS or physiotherapists to promote, maintain, or restore the physical and physiological well-being of an individual.

Comparative mapping of the region of human chromosome 7 deleted in williams syndrome. (1/254)

Williams syndrome (WS) is a complex developmental disorder resulting from the deletion of a large (approximately 1.5-2 Mb) segment of human chromosome 7q11.23. Physical mapping studies have revealed that this deleted region, which contains a number of known genes, is flanked by several large, nearly identical blocks of DNA. The presence of such highly related DNA segments in close physical proximity to one another has hampered efforts to elucidate the precise long-range organization of this segment of chromosome 7. To gain insight about the structure and evolutionary origins of this important and complex genomic region, we have constructed a fully contiguous bacterial artificial chromosome (BAC) and P1-derived artificial chromosome (PAC) contig map encompassing the corresponding region on mouse chromosome 5. In contrast to the difficulties encountered in constructing a clone-based physical map of the human WS region, the BAC/PAC-based map of the mouse WS region was straightforward to construct, with no evidence of large duplicated segments, such as those encountered in the human WS region. To confirm this difference, representative human and mouse BACs were used as probes for performing fluorescence in situ hybridization (FISH) to metaphase and interphase chromosomes. Human BACs derived from the nonunique portion of the WS region hybridized to multiple, closely spaced regions on human chromosome 7q11.23. In contrast, corresponding mouse BACs hybridized to a single site on mouse chromosome 5. Furthermore, FISH analysis revealed the presence of duplicated segments within the WS region of various nonhuman primates (chimpanzee, gorilla, orangutan, and gibbon). Hybridization was also noted at the genomic locations corresponding to human chromosome 7p22 and 7q22 in human, chimpanzee, and gorilla, but not in the other animal species examined. Together, these results indicate that the WS region is associated with large, duplicated blocks of DNA on human chromosome 7q11.23 as well as the corresponding genomic regions of other nonhuman primates. However, such duplications are not present in the mouse.  (+info)

Williams-Beuren syndrome: genes and mechanisms. (2/254)

Williams-Beuren syndrome (WBS; OMIM 194050) is caused by heterozygous deletions of approximately 1.6 Mb of chromosomal sub-band 7q11.23. The deletions are rather uniform in size as they arise spontaneously by inter- or intrachromosomal crossover events within misaligned duplicated regions of high sequence identity that flank the typical deletion. This review will discuss the status of the molecular characterization of the deletion and flanking regions, the genes identified in the deletion region and their possible roles in generating the complex multi-system clinical phenotype.  (+info)

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome. (3/254)

Williams-Beuren syndrome (WS) is a developmental disorder caused by a hemizygous microdeletion of approximately 1.4MB at chromosomal location 7q11.23. The transcription map of the WS critical region is not yet complete. We have isolated and characterised a 3.4 kb gene, GTF3, which occupies about 140 kb of the deleted region. Northern blot analysis showed that the gene is expressed in skeletal muscle and heart, and RT-PCR analysis showed expression in a range of adult tissues with stronger expression in foetal tissues. Part of the conceptual GTF3 protein sequence is almost identical to a recently reported slow muscle-fibre enhancer binding protein MusTRD1, and shows significant homology to the 90 amino-acid putative helix-loop-helix repeat (HLH) domains of the transcription factor TFII-I (encoded for by the gene GTF2I). These genes may be members of a new family of transcription factors containing this HLH-like repeated motif. Both GTF3 and GTF2I map within the WS deleted region, with GTF2I being positioned distal to GTF3. GTF3 is deleted in patients with classic WS, but not in patients we have studied with partial deletions of the WS critical region who have only supravalvular aortic stenosis. A feature of WS is abnormal muscle fatiguability, and we suggest that haploinsufficiency of the GTF3 gene may be the cause of this.  (+info)

Second-order belief attribution in Williams syndrome: intact or impaired? (4/254)

Second-order mental state attribution in a group of children with Williams syndrome was investigated. The children were compared to age, IQ, and language-matched groups of children with Prader-Willi syndrome or nonspecific mental retardation. Participants were given two trials of a second-order reasoning task. No significant differences between the Williams syndrome and Prader-Willi or mentally retarded groups on any of the test questions were found. Results contrast with the view that individuals with Williams syndrome have an intact theory of mind and suggest that in their attributions of second-order mental states, children with Williams syndrome perform no better than do other groups of children with mental retardation.  (+info)

Cognitive modularity and genetic disorders. (5/254)

This study challenges the use of adult neuropsychological models for explaining developmental disorders of genetic origin. When uneven cognitive profiles are found in childhood or adulthood, it is assumed that such phenotypic outcomes characterize infant starting states, and it has been claimed that modules subserving these abilities start out either intact or impaired. Findings from two experiments with infants with Williams syndrome (a phenotype selected to bolster innate modularity claims) indicate a within-syndrome double dissociation: For numerosity judgments, they do well in infancy but poorly in adulthood, whereas for language, they perform poorly in infancy but well in adulthood. The theoretical and clinical implications of these results could lead to a shift in focus for studies of genetic disorders.  (+info)

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23. (6/254)

Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes in a 2-cM region of chromosome band 7q11.23. With the exception of vascular stenoses due to deletion of the elastin gene, the various features of WBS have not yet been attributed to specific genes. Although >/=16 genes have been identified within the WBS deletion, completion of a physical map of the region has been difficult because of the large duplicated regions flanking the deletion. We present a physical map of the WBS deletion and flanking regions, based on assembly of a bacterial artificial chromosome/P1-derived artificial chromosome contig, analysis of high-throughput genome-sequence data, and long-range restriction mapping of genomic and cloned DNA by pulsed-field gel electrophoresis. Our map encompasses 3 Mb, including 1.6 Mb within the deletion. Two large duplicons, flanking the deletion, of >/=320 kb contain unique sequence elements from the internal border regions of the deletion, such as sequences from GTF2I (telomeric) and FKBP6 (centromeric). A third copy of this duplicon exists in inverted orientation distal to the telomeric flanking one. These duplicons show stronger sequence conservation with regard to each other than to the presumptive ancestral loci within the common deletion region. Sequence elements originating from beyond 7q11.23 are also present in these duplicons. Although the duplicons are not present in mice, the order of the single-copy genes in the conserved syntenic region of mouse chromosome 5 is inverted relative to the human map. A model is presented for a mechanism of WBS-deletion formation, based on the orientation of duplicons' components relative to each other and to the ancestral elements within the deletion region.  (+info)

Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I. (7/254)

Retinoblastoma protein (Rb) is an important regulator of vertebrate cell cycle and development. It functions through a direct interaction with protein factors involved in cell cycle progression and differentiation. In the present study we characterized a novel Rb-associated protein, Cream1, which bound to Rb specifically through a C-terminal region. Cream1 contained 959 amino acid residues and migrated as a protein of approx. 120 kDa on SDS/PAGE. It was a widely expressed nuclear protein with a nuclear localization signal resembling that of the large T antigen of simian virus 40. Its primary sequence was characteristic of five direct repeats that were similar to, but distinct from, those of TFII-I, a multifunctional transcription regulator. Three additional regions were also highly conserved in both proteins. Cream1 exhibited an activation activity that was attributed to its N-terminal portion when assayed in yeast. Its relationship with the muscle-enhancer-binding protein MusTRD1 further suggests a role in regulating gene expression. The structural gene, CREAM1, contained 27 exons and spanned more than 150 kb. It was located at human chromosome 7q11.23 in a region deleted for Williams' syndrome, a neurodevelopmental disease with multisystem abnormalities, implying its involvement in certain disorders. Taken together, our results suggest that Cream1 might serve as a positive transcription regulator under the control of Rb.  (+info)

A family of chromatin remodeling factors related to Williams syndrome transcription factor. (8/254)

Chromatin remodeling complexes have been implicated in the disruption or reformation of nucleosomal arrays resulting in modulation of transcription, DNA replication, and DNA repair. Here we report the isolation of WCRF, a new chromatin-remodeling complex from HeLa cells. WCRF is composed of two subunits, WCRF135, the human homolog of Drosophila ISWI, and WCRF180, a protein related to the Williams syndrome transcription factor. WCRF180 is a member of a family of proteins sharing a putative heterochromatin localization domain, a PHD finger, and a bromodomain, prevalent in factors involved in regulation of chromatin structure.  (+info)

TY - JOUR. T1 - Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. AU - Botta, A.. AU - Novelli, G.. AU - Mari, A.. AU - Novelli, A.. AU - Sabani, M.. AU - Korenberg, J.. AU - Osborne, L. R.. AU - Digilio, M. C.. AU - Giannotti, A.. AU - Dallapiccola, B.. PY - 1999. Y1 - 1999. N2 - We present two patients with the full Williams syndrome (WS) phenotype carrying a smaller deletion than typically observed. The deleted region spans from the elastin gene to marker D7S1870. This observation narrows the minimal region of deletion in WS and suggests that the syntaxin 1A and frizzled genes are not responsible for the major features of this developmental disorder and provides important insight into understanding the genotype-phenotype correlation in WS.. AB - We present two patients with the full Williams syndrome (WS) phenotype carrying a smaller deletion than typically observed. The deleted region spans from the elastin gene to marker ...
ndividuals with Williams syndrome typically show relatively poor visuospatial abilities in comparison to stronger verbal skills. However, individuals level of performance is not consistent across all visuospatial tasks. The studies assessing visuospatial functioning in Williams syndrome are critically reviewed, to provide a clear pattern of the relative difficulty of these tasks. This prompts a possible explanation of the variability in performance seen, which focuses on the processing demands of some of these tasks. Individuals with Williams syndrome show an atypical processing style on tests of construction, which does not affect tests of perception.. ...
Williams syndrome is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity, even among affected family members. Individuals with Williams syndrome will not have all the symptoms listed below. Some affected individuals do not have heart (cardiac) abnormalities; others may not have elevated levels of calcium in the body (hypercalcemia). In addition, the severity of these symptoms often varies greatly from case to case.. Some children with Williams syndrome may have a low birth weight, feed poorly, and fail to gain weight and grow at the expected rate (failure to thrive). Symptoms such as vomiting, gagging, diarrhea, and constipation are common during infancy. Some affected infants may have elevated levels of calcium in their blood (hypercalcemia), leading to loss of appetite, irritability, confusion, weakness, easy fatigability, and/or abdominal and muscle pain. Calcium levels usually return to normal around the age of 12 months. However, in ...
Most individuals with Williams syndrome have an affinity to music. They are touched by music in ways not usually seen in the general population. It is quite common for those with Williams syndrome to be reduced to tears by classical music, disturbed by music played in minor chords or moved to dance and laugh by playful and happy music.
The Williams-Beuren syndrome (WBS) is a sporadic congenital disorder characterized by a multisystem developmental impairment. This syndrome is caused by a microdeletion in chromosome 7q11.23 that encompasses loss of the elastin locus.. Elastin, which is part of the extracellular matrix, controls proliferation of vascular smooth muscle cells (VSMCs) and stabilizes arterial structure. Loss of elastin gene in WBS patients has been claimed to provide a biological basis for the abnormal elastic fibre properties leading to cardiovascular abnormalities like supravalvular aortic stenosis (SVAS), hypertension, arteriosclerosis and stenosis in more than 50% of WBS children.. These cardiovascular pathologies result in important consequences and neither curative nor preventive medicinal treatments exist at this time. Surgery is needed in more than half cases, while it is often leading to complications.. Minoxidil is a well-known antihypertensive drug used in adults and children. Furthermore, according to ...
Williams syndrome (WS) is a developmental disorder that affects many parts of the body. Facial features frequently include a broad forehead, short nose, and full cheeks, an appearance that has been described as "elfin". Mild to moderate intellectual disability with particular problems with visual spatial tasks such as drawing and fewer problems with language are typical. Those affected often have an outgoing personality and interact readily with strangers. Problems with teeth, heart problems, especially supravalvular aortic stenosis, and periods of high blood calcium are common. Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. Typically this occurs as a random event during the formation of the egg or sperm from which a person develops. In a small number of cases it is inherited from an affected parent in an autosomal dominant manner. The different characteristic features have been linked to the loss ...
Married to my college sweetheart Shawn for 14 years, we have six children - Jamie (11), Clare (9), Simon (7), Violet (5), Eliza (3), and Cecily (1). Our second child, Clare, was born with a rare genetic condition, Williams syndrome, severe congenital heart defects (pulmonary stenosis and aortic stenosis), a Chiari Malformation, mid-aortic syndrome, and kidney issues. She has undergone one open heart surgery and ten cardiac catheterizations to repair her cardiac and vascular defects and has also undergone a frenulectomy (tongue-tie release) and an angio-embolization of her radial artery to repair an A-V fistula and aneurysm. On May 1, she had her longest surgery yet - a bypass graft of her abdominal aorta, a bypass graft of her SMA vessel, and a kidney re-transplant (kidneys transplanted elsewhere in her body). I began this blog when Clare was an infant to chronicle our life on this new journey into Williams syndrome and raising a child with special needs and a chronic heart condition. As our ...
Educators face unique challenges teaching children with Williams syndrome, but with knowledge of the learning styles of students with WS, your students can experience success in the classroom. For a one page fact sheet on the educational profile for sudents with Williams syndrome, click here.Connecting the ws cognitive profile to educational strategiesWith school age children we see:
Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate mental retardation or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with
Fairy tales tell of wee folk who spend their lives singing and dancing. A rare genetic disorder called Williams Syndrome lends scientific support to the legends. Drummer Jeremy Vest is among those who are diagnosed with Williams Syndrome.
A hallmark feature of Williams-Beuren Syndrome (WBS) is a generalized arteriopathy due to elastin deficiency, presenting as stenoses of medium and large arteries and leading to hypertension and other cardiovascular complications. Deletion of a functi
Author Summary A fundamental question in current biomedical research is to establish a link between genomic variation and phenotypic differences, which encompasses both the seemingly neutral diversity, as well as the pathological variation that causes or predisposes to disease. Once the primary genetic cause(s) of a disease or phenotype has been identified, we need to understand the biochemical consequences of such variants that eventually lead to increased disease risk. Such phenotypic effects of genetic differences are supposedly brought about by changes in expression levels, either of the genes affected by the genetic change or indirectly through position effects. Thus, transcriptome analyses seem appropriate proxies to study the consequences of structural variation, such as the 7q11.23 deletion present in individuals with Williams-Beuren syndrome (WBS). Here, we present an approach that takes experimental data into account instead of relying solely on functional annotation, following the rationale
Q: Is there really a condition that makes kids be born looking like elves?A: There is a congenital syndrome called Williams-Beuren Syndrome (WBS, sometimes just called Williams syndrome) that manifests with facial features of a broad forehead, a small upturned nose, full lips with a long upper lip, a small chin, a starburst pattern in the colored parts of their eyes (more pronounced in blue or green-eyed patients) and full cheeks, as well as an outgoing, sociable personality.
Q: Is there really a condition that makes kids be born looking like elves?A: There is a congenital syndrome called Williams-Beuren Syndrome (WBS, sometimes just called Williams syndrome) that manifests with facial features of a broad forehead, a small upturned nose, full lips with a long upper lip, a small chin, a starburst pattern in the colored parts of their eyes (more pronounced in blue or green-eyed patients) and full cheeks, as well as an outgoing, sociable personality.
Q: Is there really a condition that makes kids be born looking like elves?A: There is a congenital syndrome called Williams-Beuren Syndrome (WBS, sometimes just called Williams syndrome) that manifests with facial features of a broad forehead, a small upturned nose, full lips with a long upper lip, a small chin, a starburst pattern in the colored parts of their eyes (more pronounced in blue or green-eyed patients) and full cheeks, as well as an outgoing, sociable personality.
Q: Is there really a condition that makes kids be born looking like elves?A: There is a congenital syndrome called Williams-Beuren Syndrome (WBS, sometimes just called Williams syndrome) that manifests with facial features of a broad forehead, a small upturned nose, full lips with a long upper lip, a small chin, a starburst pattern in the colored parts of their eyes (more pronounced in blue or green-eyed patients) and full cheeks, as well as an outgoing, sociable personality.
Q: Is there really a condition that makes kids be born looking like elves?A: There is a congenital syndrome called Williams-Beuren Syndrome (WBS, sometimes just called Williams syndrome) that manifests with facial features of a broad forehead, a small upturned nose, full lips with a long upper lip, a small chin, a starburst pattern in the colored parts of their eyes (more pronounced in blue or green-eyed patients) and full cheeks, as well as an outgoing, sociable personality.
La síndrome de Williams-Beuren és una malaltia del neurodesenvolupament causada per una deleció comú dentre 26 i 28 gens contigus a la regió 7q11.23, dificultant lestabliment de relacions genotip-fenotip. Lús de models de ratolí pot augmentar el coneixement sobre la malaltia, el paper dels gens delecionats, les vies moleculars afectades i els futurs tractaments. En aquesta tesi shan usat diversos models de ratolí, les seves cèl·lules i teixits per tal de descriure i definir fenotips, gens i vies moleculars desregulades i per descobrir elements modificadors i nous tractaments. Per últim, sha definit un nou motiu dunió per Gtf2i, uns dels gens delecionats que codifica per un factor de transcripció amb un rol central en la síndrome, proporcionats possible nous gens diana de vies moleculars desregulades. Els resultats obtinguts revelen el paper essencial dels models de ratolí per a lestudi de la síndrome de Williams-Beuren, proporcionen noves opcions terapèutiques i ...
MS Thesis: EXPRESSION AND FUNCTION OF WILLIAMS SYNDROME TRANSCRIPTION FACTOR (WSTF) IN THE NEURAL DEVELOPMENT OF XENOPUS LAEVIS Imitation Switch (ISWI) is a member of the SWI2/SNF2 superfamily of ATP-dependent chromatin remodelers. Twenty different ISWI complexes have been identified so far in yeast, Drosophila, Xenopus and mammals. Three ISWI-containing complexes, WICH, ACF and CHRAC, have been characterized in Xenopus. Loss of ISWI function in Xenopus embryos results in severe defects in neural and eye development, including loss of retinal differentiation and formation of cataracts. We have begun to dissect the contributions of individual ISWI-dependent complexes to development, by using in situ hybridization and antisense morpholino knockdowns against subunits unique to different ISWI-containing complexes. Here I have investigated the WICH complex in Xenopus and have targeted the WSTF subunit. Whole mount in situ hybridization shows WSTF localized in the neural tissue including eye, brain, ...
Spoken language is probably the most important form of social interaction between people and, maybe not surprisingly, we found that the way the brain processes language mirrors the contrasting social phenotypes of Williams syndrome and autism spectrum disorders," says lead author Inna Fishman, Ph.D., a neuropsychologist in the Laboratory of Cognitive Neuroscience at the Salk, who conceived the study together with Debra Mills, Ph.D., currently a reader at Bangor University in UK. Autism spectrum disorders and Williams syndrome are both neurodevelopmental disorders but their manifestations couldnt be more different: While autistic individuals live in a world where objects make much more sense than people do, people with Williams syndrome are social butterflies who bask in other peoples attention. Despite myriad health problems, generally low IQs and severe spatial problems, people with Williams syndrome are irresistibly drawn to strangers, look intently at peoples faces, remember names and ...
About a year ago, if you remember, Self, we were just coming out of kidney failure. Williams was pretty new to us. I was overwhelmed all of the time. I turned to that woman, and I just told her what she had wanted to know. I told her about having a new baby, who was born sick, and how long it was before I could hold him. We were living away from our family, and then we took our four month old and moved to Finland for a semester abroad. I told her how my husband spent all day in school and how I was in a concrete, unfurnished apartment sitting on a sleeping bag with a baby who screamed all day and all night, and clawed at his face until he bled because something was wrong and we didnt know what. I told her that as soon as we hit America we took him to a doctor where they did test after test after test, and finally it was determined that his severe heart problems, among other things, pointed toward a strange thing called WILLIAMS SYNDROME. And how after even more testing, it was determined that ...
About a year ago, if you remember, Self, we were just coming out of kidney failure. Williams was pretty new to us. I was overwhelmed all of the time. I turned to that woman, and I just told her what she had wanted to know. I told her about having a new baby, who was born sick, and how long it was before I could hold him. We were living away from our family, and then we took our four month old and moved to Finland for a semester abroad. I told her how my husband spent all day in school and how I was in a concrete, unfurnished apartment sitting on a sleeping bag with a baby who screamed all day and all night, and clawed at his face until he bled because something was wrong and we didnt know what. I told her that as soon as we hit America we took him to a doctor where they did test after test after test, and finally it was determined that his severe heart problems, among other things, pointed toward a strange thing called WILLIAMS SYNDROME. And how after even more testing, it was determined that ...
Author(s): Hanson, Kari | Advisor(s): Semendeferi, Katerina | Abstract: The evolution of the human brain has yielded advanced cognitive capacities supporting the development of language, technologically advanced material culture, and highly complex social behavior that has allowed for the development of the rich diversity of human cultures. Comparative neuroanatomy in evolutionary perspective continues to make great strides in characterizing and defining unique elements of the human neuroanatomical phenotype at the gross and microscopic level that underlie these key behavioral adaptations. In conjunction with these studies, an understanding of the functional implications of derived anatomical traits is gained through analyses of neurodevelopmental disorders, which help to define a spectrum of variation in the diversity of human brain phenotypes. Williams syndrome (WS) is a rare neurodevelopmental disorder caused by a hemideletion of ~1.6 Mb (25-28 genes) on human chromosome 7q11.23, a highly dynamic
Sakurai, T., Dorr, N. P., Takahashi, N., McInnes, L. A., Elder, G. A. and Buxbaum, J. D. (2011), Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions. Autism Res, 4: 28-39. doi: 10.1002/aur.169 ...
The molecular and neural mechanisms regulating human social-emotional behaviors are fundamentally important but largely unknown; unraveling these requires a genetic systems neuroscience analysis of human models. Williams Syndrome (WS), a condition caused by deletion of ∼28 genes, is associated with a gregarious personality, strong drive to approach strangers, difficult peer interactions, and attraction to music. WS provides a unique opportunity to identify endogenous human gene-behavior mechanisms. Social neuropeptides including oxytocin (OT) and arginine vasopressin (AVP) regulate reproductive and social behaviors in mammals, and we reasoned that these might mediate the features of WS. Here we established blood levels of OT and AVP in WS and controls at baseline, and at multiple timepoints following a positive emotional intervention (music), and a negative physical stressor (cold). We also related these levels to standardized indices of social behavior. Results revealed significantly higher median
... (WS) is the rare neurodevelopmental disorder characterized by: an elfin or distinctive facial appearance, along with a low nasal bridge; a demeanor which is unusually cheerful, and ease with strangers; strong language skills with developmental delay. This is the forum for discussing anything related to this health condition
Williams syndrome is a rare neurodevelopmental disorder caused by a deletion of about 26 genes from the long arm of chromosome 7. It is characterized by mental disability, heart defects and unusual facial features.
Does any one know the icd-9-cm code for Williams Syndrome? I have looked through the book and cannot find this syndrome under anything.
Riby, Deborah and Doherty-Sneddon, Gwyneth (2009) Eye movements and gaze interpretation by individuals with Williams syndrome and autism. In: Society for Research in Child Development (SRCD) biennial meeting, 2nd April 2009, Denver, Colorado. Full text not available from this repository. (Request a copy ...
View Notes - Notes Day 2 from PSYCH 100 at UMass (Amherst). Genes and Personality: Williams Syndrome (Video) 1 in 25,000 children are born with it. They are characteristically affectionate and
David Dobbs has an interesting article in The New York Times Magazine about Williams syndrome; a disorder characterized by verbosity and hypersociality in concert with abstraction capacities so attenuated that most suffers are mentally retarded. The piece juggles many phenomena, from general to domain specific intelligences and the interaction between environment and genetic biases which shape the minds developmental arc ...
There is no known cure for Williams syndrome as of 2015, but social training, physical therapy, speech therapy, monitoring of blood and heart vessel defects and occupational therapy are some of the...
This category is for all associations or organizations that promote education, research, and advocacy for patients with Williams Syndrome, their families and caregivers.
Meet Chloe, the 11-year-old whose powerful smile is bringing together supporters and scientists to advance research on Williams syndrome.
Williams syndrome associated Celiac Disease information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
My name is Kelsey Braaten and I work with Sam and Dustin Devary. I wanted to help … Kelsey Rae Braaten needs your support for Westons Williams Syndrome story
Williams Syndome (WS) is as complex neurodevelopmental disorder characterized by vascular and heart disease, mental retardation, characteristic facial features, and chararteristic personality. WS, which is usually sporadic, affects approximately 1 in 20,000 live births and is caused by a particular deletion of about 1.5 Mb of chromosome 7q11.23. My lab has shed light on the anatomical and cognitive basis for WS. While WS patients have cognitive gifts, such as notable linguistic abilities, they also have deficits, such as visuospatial deficits. WS patients also show significant anatomical differences, with a reduces perimeter of the corpus collosum and amygdalar nuclei. The major current goal in the field is to connect the genetic basis to these anatomical and cognitive differences. About 28 genes are deleted in WS; four such genes are Elastin, Lim kinase, WSTF and GTF21. An elastin deletion results in supravalcular aortic sclerosis (SVAS), which is commin in WS patients. Lim kinase absence affects actin
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Further parsing the consequences of GTF2IRD1 versus GTF2I on spatial structure and social behavior once was hampered by the small number of cases with fewer than the most common gene deletions and limited cognitive data, clarifies Korenberg. To distinguish the roles of both genes, postdoctoral research and researcher first author Li Dai, Ph.D., combed the genomes of 17 Williams Syndrome patients to recognize those who had lost only 1 GTF2I gene. This allowed identification of a girl who got retained GTF2I but didnt match the classical explanation of the disorder. Getting this girl was extremely exciting, Korenberg stated. Her case had so very much power to explain the part of these genes. When the Salk researchers tested the girl to measure her IQ and social behavior, they found her scores in vocabulary, information digesting, comprehension, arithmetic, and the ability to surface finish partially finished drawings to be considerably closer to normal than most sufferers with Williams syndrome. ...
USC defensive line Leonard Williams admitted Saturday that it is difficult to avoid thinking about whether to turn pro early. It is understandable when virtually every mock draft lists Williams as a top-five pick.. "I think about it all the time," Williams said. "Everyones asking about it. Its going to be the hardest decision I will probably ever make.. "As cheesy as it may be, its going to come down to how I feel in my heart.". ESPN draft guru Mel Kiper lists Williams as the No. 2 prospect behind Oregon quarterback Marcus Mariota. Williams, who was disappointed to be a second-team Walter Camp All-American, was chosen a first-team All-American by ESPN.com.. He is the first defensive end since Marlin McKeever to earn first-team All-American twice. Of course it should be noted that Williams also plays inside even though he is listed as a defensive end.. USC coach Steve Sarkisian reminisced about facing Williams when Washington played USC in 2012.. "He was a little bit of a novelty (as a ...
When its merger with Energy Transfer Equity was on the brink of collapse, Williams warned investors that it would need to cut its dividend by a material amount if the deal did not close. That is just what happened, with the company announcing a 68.8% reduction shortly after the deal imploded. However, the method of the reduction was surprisingly smart, with Williams choosing to reinvest the excess cash to support its MLP Williams Partners (NYSE:WPZ) by acquiring additional units in a distribution reinvestment program (DRIP). Doing so would enable Williams Partners to maintain its lucrative payout because its parent would provide it with some of the cash it needed to fund growth capex. If everything goes according to plan, both Williams and Williams Partners expect to be in the position to start growing their respective payouts in 2018. That has the potential to drive accelerated income growth at Williams, which by that time will own a much larger stake in its MLP. Further, this agreement will ...
Last night Taylor and I ditched the kids and went to Williams schools charity silent auction. While we didnt win anything, we did have a good time. We had a chance to talk to Williams teacher too which was nice. For me there is always a moment of awkwardness approaching her. Other than Taylor and I, she spends the most time with William but we arent friends. I dont hang out with her, I dont know a lot about her life etc. So really we only have William in common and I never know what to say to her exactly. Obviously I want to hear about William in school but I also want to be polite and not bombard her with questions about my son. Anyway, the awkwardness wore off pretty quickly. We had a great conversation (about William) and I learned that hes doing advanced work in math. We already knew that he could count beyond 100. (Though he forgets 13, 14, and 15 EVERY TIME he counts, but he remembers 113, 114, and 115. Weird, right?) Apparently she has introduced William to some of the older kids ...
After ONeill, Williams is perhaps the best dramatist the United States has yet produced. Born in his grandfathers rectory in Columbus, Mississippi, Williams and his family later moved to St. Louis. There Williams endured many bad years caused by the abuse of his father and his own anguish over his introverted sister, who was later permanently institutionalized. Williams attended the University of Missouri, and, after time out to clerk for a shoe company and for his own mental breakdown, also attended Washington University of St. Louis and the University of Iowa, from which he graduated in 1938. Williams began to write plays in 1935. During 1943 he spent six months as a contract screenwriter for MGM but produced only one script, The Gentleman Caller. When MGM rejected it, Williams turned it into his first major success, The Glass Menagerie (1945). In this intensely autobiographical play, Williams dramatizes the story of Amanda, who dreams of restoring her lost past by finding a gentleman caller ...
Mary Elizabeth Williams is an American writer and commentator. She is a staff writer for the online magazine Salon. She has also written for The New York Times, The Nation, and other publications. As a commentator, she has made appearances on MSNBC, Today, and NBC Nightly News. In 2009, Williams released a memoir titled Gimme Shelter. Mary Elizabeth Williams grew up in Jersey City, New Jersey. She has described herself as a practicing Catholic. In August 2010, Williams was diagnosed with malignant melanoma and underwent surgery. In August 2011, she was rediagnosed with stage IV melanoma. Later that year, she entered a stage I clinical trial for an experimental immunotherapy cancer drug, with which she had some success. Williams has documented her experiences with cancer on Salon. Larry Smith (March 9, 2009). "Interview: Mary Elizabeth Williams, Author of Gimme Shelter". Smith Magazine. Retrieved 11 May 2012. Mary Elizabeth Williams. "The story so far.." MaryElizabethWilliams.net. Retrieved 11 ...
A new study finds that adults with Williams syndrome-who are extremely social and trusting-use Facebook and other social networking sites frequently and are especially vulnerable to online victimization.
On March 31, 2014, Williams was announced as a new coach for the seventh season of The Voice, replacing CeeLo Green.[59] On May 18, 2015, Team Pharrell had 16-year-old Sawyer Fredericks win the eighth season of The Voice. In June 2014, it was announced that Williams would make a guest appearance on the docu-series Sisterhood of Hip Hop.[60] Williams was the executive producer of Atlanta rapper T.I.s ninth studio album, Paperwork, which was released on October 21, 2014 by Grand Hustle and Columbia Records.[61] In May 2014, Williams curated an art show named after his album, "Girl," at the Galerie Perrotin in Paris, France. The show included 37 artists including Takashi Murakami, JR, Daniel Arsham, and Marina Abramovic among others."[62] Comme des Garçons developed a unisex fragrance with Williams[63] scheduled for release in late 2014. Kaws designed the bottle artwork.[64]. In January 2015, Williams and Al Gore announced that they are teaming up to create a 7-continent "Live Earth" concert on ...
Partner: Theory and Multi-disciplinary Practice. Vollman, A., Anderson, E., and McFarlane J. (eds), 4 th edition, Chapter 6, pp. 80-91. London: Lipincott, Williams and Wilkins.. Williams, L. (2011) Developing Personal Skills: Building Capacity for Individual, Collective and Socio-political Empowerment. In Canadian Community as Partner: Theory and Multi-disciplinary Practice. Vollman, A., Anderson, E., and McFarlane, J. (eds), 3rd edition, pp. 87-102. London: Lipincott, Williams and Wilkins.. Williams, L. and Mumtaz, Z. (2008) Being alive well? Power-knowledge as a countervailing force to the realization of mental well-being for Canadas Aboriginal youth. International Journal of Mental Health Promotion, 10(4): 21-31. http://dx.doi.org/10.1080/14623730.2008.9721773. Williams, L. (2008) Developing Personal Skills: Empowerment. In Canadian Community as Partner: Theory and Practice. Vollman, A., Anderson, E., and McFarlane, J. (eds), 2nd edition, pp. 94-112. London: Lipincott, Williams and ...
The following is a guest post from Doug Williams, who writes from the federal prison camp at Florence, Colorado. Williams, who for decades had taught people how to pass or beat polygraph "tests" without incident (and whose website, Polygraph.com, remains online), was targeted for entrapment in a federal criminal investigation dubbed Operation Lie Busters. On 21 February 2013, federal agents searched Williams home and office, seizing business records. Williams was later indicted on two counts of mail fraud and three counts of witness tampering, and pled guilty during a trial held in May 2015. On 30 October 2015, Williams began serving a two-year prison sentence. The only crimes of which Williams was convicted are those that federal agents conceived and stage managed.. It is now very obvious that my book From Cop to Crusader: The Story of My Fight Against the Dangerous Myth of Lie Detection has been distributed to just about every polygraph operator on the face of the earth. And while it is true ...
Gospel Music Legend Melvin Williams Receives First EMMY Award Nomination. New Documentary on PBS Follows Williams Journey from Mississippi Cotton Fields through Five-Decade Career in Music and Entertainment (New York, NY - May 24, 2018) - Gospel Music legend Melvin Williams, a member of the award-winning Williams Brothers, has received a 2018 Southeast EMMY Award nomination for Special Event Coverage of his new documentary, "Melvin Williams: Down Home Gospel." The film, which examines Williams journey from his roots in Smithdale, Mississippi, to a stellar, five-decade career in music and entertainment, will premiere nationally on PBS during Gospel Heritage Month 2018 (September) in more than 200 markets. The film initially aired on Mississippi Public Broadcasting on March 4, 2017, and January 26, 2018.. The 44th Annual Southeast Emmy Awards will be held on Saturday, June 16, 2018, at the Grand Hyatt Buckhead in Atlanta, Georgia. Hosted by CNNs Anchor Fredricka Whitfield, the Southeast EMMY ...
Ian Williams practiced Wednesday for the first time since he suffered a broken left ankle last season.. Williams return comes at a time when the 49ers are in need of a replacement for veteran nose tackle Glenn Dorsey, who suffered a torn biceps earlier in camp and is sidelined indefinitely.. "Our last look at Ian was last camp and into the second game ," 49ers defensive coordinator Vic Fangio said.. Hence, Fangio and others in the 49ers organization are eager to see how well Williams has recovered from an injury that required four surgeries.. Williams participated in the teams morning walk-through Wednesday. He is slated to take part in the full-scale practice this afternoon.. At that point, Williams said, he should get a better feel for where hes at in his near-year-long recovery.. "Its different running around, cutting, everything like that; thats the easy part," Williams said. "Anybody can do combine drills like that. But when youre pushing against somebody thats 350 pounds, thats ...
Lippincott Williams & Wilkins. p. 664. ISBN 978-0-7817-3790-6. Retrieved 9 August 2013.. ... De Quervain syndrome, is a tenosynovitis of the sheath or tunnel that surrounds two tendons that control movement of the thumb. ... Wartenberg's syndrome. Treatment[edit]. As with many musculoskeletal conditions, the management of de Quervain's disease is ... Intersection syndrome-pain will be more towards the middle of the back of the forearm and about 2-3 inches below the wrist ...
Baltimore: Williams & Wilkins. ISBN 978-0781748025.. *. Martin GS, Moss M, Wheeler AP, Mealer M, Morris JA, Bernard GR (2005). ... Acute respiratory distress syndrome. Synonyms. Respiratory distress syndrome (RDS), adult respiratory distress syndrome, shock ... Acute respiratory distress syndrome. Acute liver failure. Respiratory failure. Multiple organ dysfunction syndrome. *Neonatal ... "adult respiratory distress syndrome" has at times been used to differentiate ARDS from "infant respiratory distress syndrome" ...
Williams of Williams-Beuren syndrome". Pediatric Radiology. 41 (2): 267-9. doi:10.1007/s00247-010-1909-y. PMID 21107555.. ... نشانگان ویلیامز یا سندروم ویلیامز-بویرن (انگلیسی: Williams syndrome) (اختصاری WBS) یک نارسایی رشد عصبی نادر است که در آن چهره ... Williams syndrome. ». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۸ اکتبر ۲۰۱۶. ... If a person suffers the small genetic accident that creates Williams syndrome, he'll live with not only some fairly ...
DSED "...may have a biological cause in some cases (e.g., Williams syndrome)." The most obvious symptom is "...the absence of ...
Some medium-sized deletions lead to recognizable human disorders, e.g. Williams syndrome. Deletion of a number of pairs that is ... Deletion of part of the short arm of chromosome 5 results in Cri du chat syndrome. Deletions in the SMN-encoding gene cause ... Indel Chromosome abnormalities Null allele List of genetic disorders Medical genetics Microdeletion syndrome Chromosomal ... deletion syndrome Lewis, R. (2004). Human Genetics: Concepts and Applications (6th ed.). McGraw Hill. ISBN 0072951745. Banavali ...
Karmiloff-Smith supported her theories by her research work into Williams syndrome. This rare syndrome was originally thought ... In a series of papers (e.g.), Karmiloff-Smith and colleagues discovered that impairments in Williams syndrome are far more ... She was an expert in developmental disorders, with a particular interest in Williams syndrome. Professor Karmiloff-Smith argued ... ISBN 0-262-61114-7. Karmiloff-Smith, A. (2007). "Williams syndrome". Curr. Biol. 17 (24): R1035-R1036. doi:10.1016/j.cub. ...
99, Tourette Syndrome. Lippincott, Williams & Wilkins, Philadelphia, PA, 2006, s. xv. ISBN 0-7817-9970-8 ... Tourette Syndrome Association. Arkivert 24. mai 2006. *^ a b c The Tourette Syndrome Classification Study Group. «Definitions ... Tourette syndrome. eMedicine (23. juni 2008). Besøkt den 10. august 2009. *^ Leckman JF. «Tourette's syndrome» Lancet. 16. ... is from the Tourette Syndrome Association's "What is Tourette syndrome?" and the NINDS/NIH Tourette Syndrome Fact Sheet. ...
Her research interests are in autism, Williams syndrome, Down syndrome, and specific language impairment, which she has ... Autism And Williams Syndrome. Essays in Developmental Psychology. UK: Psychology Press. ISBN 978-1841690087. Tager-Flusberg, ...
Mortada R, Williams T. Metabolic Syndrome: Polycystic Ovary Syndrome. FP Essentials (Review). 2015, 435: 30-42. PMID 26280343. ... 多囊性卵巢綜合症(Polycystic ovary syndrome,簡稱PCOS),又稱斯-李二氏症(Stein-Leventhal syndrome),是一連串女性因為雄性激素上升所導致的症狀[4]。多囊性卵巢的症狀包含月經不規律或是無月經、月經量過 ... Stein-Leventhal syndrome, also known as polycystic ovary syndrome (PCOS), is a disorder characterized
... ability has higher prevalence among those with Williams Syndrome and those with an autism spectrum disorder, ... Lenhoff, H. M.; Perales, O. & Hickok, G. (2001). "Absolute pitch in Williams syndrome". Music Perception. 18 (4): 491-503. doi: ...
"Exploring Williams-Beuren syndrome using myGrid". Bioinformatics. 20: i303-i310. doi:10.1093/bioinformatics/bth944. PMID ... Williams, A. J.; Harland, L.; Groth, P.; Pettifer, S.; Chichester, C.; Willighagen, E. L.; Evelo, C. T.; Blomberg, N.; Ecker, G ... Wolstencroft, K.; Haines, R.; Fellows, D.; Williams, A.; Withers, D.; Owen, S.; Soiland-Reyes, S.; Dunlop, I.; Nenadic, A.; ...
Williams syndrome: People with Williams syndrome show some deficits in speechreading which may be independent of their visuo- ... Böhning, M; Campbell, R; Karmiloff-Smith, A (2002). "Audiovisual speech perception in Williams syndrome". Neuropsychologia. 40 ...
"Exploring Williams-Beuren syndrome using myGrid". Bioinformatics. 20: i303-i310. doi:10.1093/bioinformatics/bth944. PMID ... Wolstencroft, K.; Haines, R.; Fellows, D.; Williams, A.; Withers, D.; Owen, S.; Soiland-Reyes, S.; Dunlop, I.; Nenadic, A.; ...
Williams syndrome, a neurodevelopmental disorder characterized by a unique profile of strengths and deficits; most with the ... ISBN 978-0-8058-1180-3. Morris, CA; Lenhoff, HM; Wang, PP (2006-02-13). Williams-Beuren Syndrome: Research, Evaluation, and ... Bellugi, U; Wang, PP; Jernigan, TL (1994). "Williams Syndrome: An Unusual Neuropsychological Profile". In Broman, SH; Grafman, ... 2006). "Echocardiographic findings in patients with Williams-Beuren syndrome". Wiener Klinische Wochenschrift. 118 (17-18): 538 ...
... hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. LIMK1 has been shown ... "Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients". Genomics. 36 ( ... "LIM-kinase deleted in Williams syndrome". Nat. Genet. 13 (3): 272-3. doi:10.1038/ng0796-272. PMID 8673124. Osborne LR, ... "Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23". Mamm. Genome. ...
"Exploring Williams-Beuren syndrome using myGrid". Bioinformatics. 20: i303-i310. doi:10.1093/bioinformatics/bth944. PMID ...
"Exploring Williams-Beuren syndrome using myGrid". Bioinformatics. 20: i303-i310. doi:10.1093/bioinformatics/bth944. PMID ... Taverna Online - with metagenomic examples, Alan Williams, University of Manchester, United Kingdom VPH-Share project roadmap, ...
177-189). London: Churchill Livingstone Brock, J. (2007). Language abilities in Williams syndrome: A critical review. ... and Williams Syndrome (WS) where language is said to be spared despite severe mental deficits. More recent and empirically ... Dissociation between language and cognitive functions in Williams syndrome. In D. Bishop and K. Mogford (Eds.), Language ... Language and communicative development in Williams Syndrome. Mental Retardation and Developmental Disabilities Research Reviews ...
nurture: Williams syndrome across cultures Williams syndrome, the brain, and music Are There "Social Behavior" Genes. ... Bellugi, U., Järvinen-Pasley, A., Doyle, T., Reilly, J., & Korenberg, J. (2007). Williams syndrome : A neurogenetic model of ... She has also investigated the language abilities of individuals with Williams Syndrome, a puzzling genetically based disorder ... Bridging cognition, brain and molecular genetics: Evidence from Williams syndrome. Trends in Neurosciences, 5, 197-208. Bellugi ...
2013). "Williams Syndrome". GeneReviews (University of Washington). பப்மெட் 20301427. *↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 3.8 ... Williams of Williams-Beuren syndrome". Pediatric Radiology 41 (2): 267-9. doi:10.1007/s00247-010-1909-y. பப்மெட் 21107555. ... 5.0 5.1 5.2 5.3 5.4 Martens, Marilee A.; Wilson, Sarah J.; Reutens, David C. (2008). "Research Review: Williams syndrome: A ... வில்லியம்சு நோய்த்தொகை (Williams syndrome) (WS) உடலின் பல உறுப்புகளைத் தாக்கும் மரபியல் கோளாறு ஆகும்.[3] அகன்ற நெற்றி, ...
Lippincott Williams & Wilkins. s. 236. ISBN 0-7817-5001-6. Hentet 2008-01-09.. ... "Repetitive head injury syndrome". eMedicine.com. Hentet 2007-12-16.. *^ a b c d e f Cantu RC (1998). "Second-impact syndrome" ... Second-impact syndrome (SIS), hvilket direkte oversat betyder Andet-slag syndrom, opstår når hjernen hæver hurtigt og ... a b c Tyler JH and Nelson ME (May 2000). Second impact syndrome: Sports confront consequences of concussions. USA Today ( ...
New Zealand cardiologist J.C.P. Williams identifies Williams syndrome. The non-steroidal anti-inflammatory drug Ibuprofen, ... Williams of Williams-Beuren syndrome". Pediatric Radiology. 41 (2): 267-269. doi:10.1007/s00247-010-1909-y. ISSN 0301-0449. ...
"Echocardiographic and Doppler findings in the Williams syndrome". American Journal of Cardiology. 63 (9): 633-5. doi:10.1016/ ... 8 (3). Amir, Naomi; Gross-Kielsenstein, Eva; Hirsch, Harry J. (December 1984). "Weaver-Smith Syndrome: A Case Study With Long- ...
It can be associated with Williams syndrome or leprechaunism. https://books.google.com/books/about/Medicine_Prep_Manual_for_ ...
"Entrez Gene: WBSCR22 Williams Beuren syndrome chromosome region 22". Stanchi F, Bertocco E, Toppo S, et al. (2001). " ... This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at ... Doll A, Grzeschik KH (Apr 2002). "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome ... "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Hum Genet. 110 (5): 429-38. doi: ...
Wiskott-Aldrich syndrome(英语:Wiskott-Aldrich syndrome))[37]。 ... Sun JC, Williams MA, Bevan MJ. CD4+ T cells are required for the maintenance, not programming, of memory CD8+ T cells after ... Williams, Matthew A.; Bevan, Michael J. Effector and memory CTL differentiation. Annual Review of Immunology. 2007, 25: 171-192 ...
"Diagnosing Williams Syndrome". Guide to Williams Syndrome. Williams Syndrome Association. Archived from the original on 2011-12 ... including the Canadian Association for Williams Syndrome and the Williams Syndrome Registry. Williams syndrome has historically ... "cocktail party syndrome". Physicians, family members of individuals with Williams syndrome, and Williams syndrome associations ... The syndrome was first described in 1961 by New Zealander John C. P. Williams. Williams syndrome affects between 1 in 7,500 to ...
... have also been reported in people with Williams syndrome.. Additional signs and symptoms of Williams syndrome include ... medlineplus.gov/genetics/condition/williams-syndrome/ Williams syndrome. ... CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. ... Williams syndrome is caused by the deletion. of genetic material from a specific region of chromosome 7. The deleted region ...
Williams syndrome is a rare genetic condition which can give a person special facial features, a sociable personality, and some ... Williams syndrome (WS or WMS), or Williams-Beuren syndrome (WBS), happens because approximately 26 genes are deleted from ... Williams syndrome. (2014, December). Retrieved from https://ghr.nlm.nih.gov/condition/williams-syndrome#diagnosis ... Williams syndrome. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/williams-syndrome/ ...
The rare autoimmune disease that forced tennis star Venus Williams out of the U.S. Open caused debilitating joint pain, ... Venus Williams: What Is Sjogrens Syndrome?. Williams tells GMA how the autoimmune disease forced her out of the U.S. Open.. By ... Williams announced her withdrawal from the tournament Wednesday after being diagnosed with Sjogrens syndrome -- a condition in ... Williams said she absolutely plans to return to tennis. Williams sister and fellow tennis pro Serena had a health scare in ...
Children with Williams Syndrome often have trouble developing both mentally and physically. Read on to learn how Childrens ... What is Williams Syndrome?. Williams syndrome is a rare genetic disorder that can lead to problems with development. Symptoms ... More information is available through the Williams Syndrome Association or through Medline Plus, a service of the National ... There is no cure for Williams syndrome. However, medical interventions can help to address symptoms. Additionally, physical ...
... Despoina Maritsi,1 Lydia Kossiva,2 and George Vartzelis2 ... Williams syndrome is a rare genetic condition with multisystemic involvement, caused by a microscopic deletion in the ... We describe the first case of a toddler with Williams syndrome who developed Benign Paroxysmal Torticollis (BPT), a benign ...
1. Williams syndrome, syndrome. usage: a rare congenital disorder associated with deletion of genetic material in chromosome 7 ...
Williams has been diagnosed with Sjogren's syndrome, an autoimmune disease that affects moisture-producing glands. ... Venus Williams competes during the first round of the U.S. Open tennis tournament in New York. ... Williams has been diagnosed with Sjogrens syndrome, an autoimmune disease that affects moisture-producing glands. (Charles ... Williams has been diagnosed with Sjogrens syndrome, an autoimmune disease that affects moisture-producing glands. ...
A rare genetic disorder called Williams Syndrome lends scientific support to the legends. Drummer Jeremy Vest is among those ... Williams Syndrome: Its Not a Fairy Tale Fairy tales tell of wee folk who spend their lives singing and dancing. A rare genetic ... CHATTERJEE: Williams Syndrome is caused by a set of genes that go missing. Scientists have slowly begun to understand how these ... JEREMY VEST (Williams Syndrome Patient): I was just upstairs in my room listening to Malaguena from a really awesome show ...
Lyrics to Hank Williams Syndrome by Waylon Jennings: Verse 1: / Ramblin about / Down through the South / I find things are a ... Hank Williams Syndrome Lyrics. Lyrics ► Artists: W ► Waylon Jennings ► Hank Williams Syndrome ... Hank Williams Syndrome Lyrics Languages Arabic Deutsch Greek English Spanish French Italian Japanese Korean Netherlands ... But the Hank Williams syndrome is dead. Verse 3:. The new hats are here. And its increasingly clear. Our day is slipping on by ...
Williams syndrome causes multiple developmental problems, including heart and blood vessel issues, musculoskeletal problems, ... What is Williams syndrome?. Williams syndrome, also called Williams-Beuren syndrome, is a rare genetic disorder. It causes many ... Can Williams syndrome be prevented?. There is no known way to prevent Williams syndrome. People with a family history of the ... Treatment options for Williams syndrome. There is no cure for Williams syndrome. Treatment involves easing the symptoms ...
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Williams Syndrome (WS) was first recognised medically in 1961. It is a little known genetic disorder affecting an estimated 1 ... Williams Syndrome (thing). See all of Williams Syndrome, there is 1 more in this node. ... Fragile X Syndrome. Ann Coulter. Rumi-chan speaks the truth. FOXP2. Autistic spectrum disorder. Ralph Vaughan Williams. Matilda ... Williams Syndrome (WS) was first recognised medically in 1961. It is a little known genetic disorder affecting an estimated 1 ...
I have looked through the book and cannot find this syndrome under anything. ... Does any one know the icd-9-cm code for Williams Syndrome? ... Williams syndrome (WS or WMS; also Williams-Beuren syndrome or ... Williams Syndrome Looks like you could go either way on this one.. williams syndrome noun a rare congenital disorder associated ... Other micro-deletion syndromes (758.5) (includes Miller Dieker syndrome, Smith-Magenis syndrome). DiGeorge Syndrome (279.11). ...
Babak Khoshnood, Nathalie Lelong, Lucile Houyel, Anne-Claire Thieulin, Jean-Marie Jouannic, Suzel Magnier, Anne-Lise Delezoide, Jean-François Magny, Caroline Rambaud, Damien Bonnet, François Goffinet, on behalf of the EPICARD Study Group ...
Williams Syndrome. Read in Chinese What causes Williams Syndrome?. Williams Syndrome is caused by a deletion of genetic ... How is Williams Syndrome Diagnosed?. Williams Syndrome is usually diagnosed with the characteristic facial features and the ... What research is being done for children with Williams Syndrome? There is no cure for Williams Syndrome. Research is being done ... What sort of eye problems could a child have with Williams Syndrome?. Certain ocular findings such as strabismus and amblyopia ...
... a Film About Williams Syndrome. [Jon Kent; Sproutflix (Organization),;] -- You think you know the meaning of kindness, charisma ... musical passion and joy until you meet Ben Monkaba and others like him with a rare genetic condition called Williams Syndrome. ... syndrome> # Williams syndrome. a schema:Intangible ;. schema:name "Williams syndrome"@en ;. .. ... schema:about williams_syndrome> ; # Williams syndrome. schema ...
Williams syndrome synonyms, Williams syndrome pronunciation, Williams syndrome translation, English dictionary definition of ... n pathol an abnormality in the genes involved in calcium metabolism, resulting in mental retardation Noun 1. Williams syndrome ... Williams syndrome - definition of Williams syndrome by The Free Dictionary https://www.thefreedictionary.com/Williams+syndrome ... Williams syndrome. Also found in: Thesaurus, Medical, Legal, Financial, Acronyms, Encyclopedia, Wikipedia. Williams syndrome. n ...
Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and ... Brain biochemistry in Williams syndrome. Neuro. 1998;52:33-40.. Kruse K, et al. Calcium metabolism in Williams-Beuren syndrome ... Williams Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:270. ... Some children with Williams syndrome may have a low birth weight, feed poorly, and fail to gain weight and grow at the expected ...
Find Williams Syndrome Changing Lives Foundation volunteering opportunities at VolunteerMatch! ... Williams Syndrome Changing Lives Foundation Williams Syndrome Changing Lives Foundation Mission Statement. The Williams ... The Williams Syndrome Changing Lives Foundation is a non-profit foundation centered on increasing Williams syndrome awareness, ... Inspired by my youngest son, Keith, who was diagnosed with Williams syndrome and autism, I formed Williams Syndrome Changing ...
For a student with Williams Syndrome they continue to fall behind with development and maturity behind their peers. Students ... Williams Syndrome : A Genetic Disease. 1444 Words , 6 Pages. Williams Syndrome Williams Syndrome is a rare genetic disease that ... More about A Student With Williams Syndrome. *. Williams Syndrome : A Genetic Disease. 1444 Words , 6 Pages ... Williams Syndrome is caused by a genetic deletion of parts of chromosome 7. The syndrome is commonly linked to causing a child ...
The Williams Syndrome is most evident when Chloe gets up. "She moves more slowly than other children and is less coordinated," ... "The scare of the heart problem was a huge hurdle, and I knew she was going to need surgery, and then the Williams Syndrome," ... "Marshall had gone home and I was alone, and the cardiologist asked me if I had heard of Williams Syndrome, and my heart started ... Williams Syndrome, Their Childs Disorder, Mobilized the Kievs. State of the Unions ...
Williams Syndrome Association NZ New Zealand Williams Syndrome Association. Williams Syndrome Association of Ireland A charity ... Williams Syndrome Foundation The UK Williams Syndrome Foundation WS Family Support Group A community of families with Williams ... Williams Syndrome Wikipedia Extract : View Full Article Williams syndrome (WS) is a genetic disorder that affects many parts of ... The Williams Syndrome Association of Western Australia is devoted to improving the lives of individuals with Williams Syndrome ...
Sacks : Williams syndrome. [Oliver Sacks; Films for the Humanities (Firm);] -- (Producer) When six year-old Heidi Comfort, a ... victim of Williams syndrome, greeted Oliver Sacks by saying, Dont be shy, Mr. Sacks, he was immediately charmed. While ... syndrome> # Williams Syndrome a schema:Intangible ;. schema:name "Williams Syndrome"@en ;. . ... schema:about williams_syndrome> ; # Williams Syndrome schema: ...
Parents affected by Williams syndrome carry a 50 percent risk of passing on the genetic defect to their child. Here are ... Symptoms of Williams syndrome. The following are some of the signs and symptoms of Williams syndrome:. *The little finger may ... Causes of Williams syndrome. Williams syndrome is a rare disorder caused due to deleted or missing genes. Such genetic defects ... This syndrome is rare and complex; and there is no known cure or a specific treatment method for Williams syndrome. As per the ...
  • The Williams Syndrome Family of Hope, Inc. is a grassroots non-profit organization that was formed by families for families. (rarediseases.org)
  • some of the major medical conditions that affect the life span of children diagnosed with Williams syndrome include abdominal pain, heart failure as a result of narrowed blood vessels and calcium deposits in the kidney. (reference.com)
  • Williams Syndrome is an unusual genetic condition characterized by inadequate mental development, an atypical appearance of the face, problems of the circulatory system including the heart and blood vessels,and discrepancies in the level of blood calcium. (steadyhealth.com)
  • Most cases of Williams syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. (medlineplus.gov)
  • Thus, individuals with Williams syndrome are often able to visually identify and recognize whole objects, and refer to them by name, but struggle with visuospatial construction (seeing an object as being composed of many smaller parts, and recreating it) and orienting themselves in space. (wikipedia.org)
  • The studies assessing visuospatial functioning in Williams syndrome are critically reviewed, to provide a clear pattern of the relative difficulty of these tasks. (surrey.ac.uk)
  • Here, we used multivariate methods to define a single neuroanatomical score of how William's Syndrome (WS) brains deviate structurally from controls. (nih.gov)