*  Cardiomyopathy Flashcards by Pedro Garay | Brainscape
Maybe transmitted by a autosomal dominant gene with variable penetrance 7 What are some aliases associated w HCM? Must have 3 ...
  https://www.brainscape.com/flashcards/cardiomyopathy-2551890/packs/4420722
*  Familial renal disease in animals - Wikipedia
The mechanism of inheritance appears to be through an autosomal dominant gene with incomplete penetrance. Soft-Coated Wheaten ... It is inherited through an autosomal dominant mechanism and can progress to kidney disease later in life. Easley, JR; ... It is inherited as an autosomal recessive trait. Doberman Pinschers can be affected by basement membrane disease of the kidneys ... It is inherited through an autosomal recessive mechanism. Chow Chows can be affected by renal dysplasia that progresses to ...
  https://en.wikipedia.org/wiki/Familial_renal_disease_in_animals
*  GJA3 - Wikipedia
2004). "A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance". J. ... 2006). "A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic ... Devi RR, Reena C, Vijayalakshmi P (2006). "Novel mutations in GJA3 associated with autosomal dominant congenital cataract in ... 2000). "Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel ...
  https://en.wikipedia.org/wiki/GJA3
*  HOXD13 gene - Genetics Home Reference - NIH
This condition is inherited as an autosomal dominant trait with reduced penetrance. [MIM:186000] ... From NCBI Gene:. This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of ... consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on ... HOXD13 gene. homeobox D13. Enable Javascript to view the expand/collapse boxes.. Open All Close All ...
  https://ghr.nlm.nih.gov/gene/HOXD13
*  Craniofacial Flashcards by RE Kling | Brainscape
It is autosomal dominant with variable penetrance and has an incidence of 1 in 7,000 live births. It has significant ... Mutations in the IRF6 gene cause van der Woude syndrome. Van der Woude syndrome is an autosomal dominant form of cleft lip and ... is autosomal dominant and associated with mutations of FGFR2. Crouzon syndrome is also autosomal dominant and characterized by ... It is autosomal dominant with variable penetrance and has an incidence of 1 in 7000 live births. TCS has significant ...
  https://www.brainscape.com/flashcards/craniofacial-5496886/packs/8232926
*  Treacher Collins syndrome - Wikipedia
TCS is inherited in an autosomal dominant manner and the penetrance of the affected gene is almost complete. Some recent ... TCS is usually autosomal dominant. More than half the time it occurs as a result of a new mutation rather than being inherited ... Mutations in TCOF1 and POLR1D cause the autosomal dominant form of Treacher Collins, and mutations in POLR1C cause the ... autosomal recessive form. TCOF1 is the primary gene associated with TCS; a mutation in this gene being found in 90-95% of the ...
  https://en.wikipedia.org/wiki/Treacher_Collins_syndrome
*  Cavernomas in the central nervous system and the relevance of multiple intracranial lesions in the familial form of this...
The inheritance would seem to be autosomal dominant with strong penetrance. Recently the gene implicated has been mapped to the ... 1994) Genetic linkage of the familial cavernous malformation gene to chromosome 7q (abstract). Am J Hum Genet 55:A15. ...
  http://jnnp.bmj.com/content/66/1/117.1
*  Linkage Analysis of the Genetic Loci for High Myopia on 18p, 12q, and 17q in 51 U.K. Families | IOVS | ARVO Journals
... which would be expected to enrich the sample for high penetrance autosomal dominant disease genes. Yet the three high myopia ... Therefore, it is known from molecular genetic studies that at least three high-penetrance loci exist for autosomal dominant ... of apparent autosomal dominant high myopia in the United Kingdom, with the disease gene apparently situated within the narrowed ... all of which show apparent high-penetrance autosomal dominant transmission, appeared to be the cause of high myopia in only a ...
  https://iovs.arvojournals.org/article.aspx?articleid=2163277
*  Plus it
... breast cancers are attributable to an inherited susceptibility of a rare autosomal dominant mutated gene with high penetrance ( ... Recently, polymorphism of the AR gene has been proposed to be a modulator of the penetrance of BRCA1 mutations in women (23) , ... Because it is likely that most of the relatively rare mutated genes resulting in a high penetrance of breast cancer have been ... Newman B., Austin M. A., Lee M., King M. C. Inheritance of human breast cancer: evidence for autosomal dominant transmission in ...
  http://cancerres.aacrjournals.org/content/61/15/5869
*  The elusive gene for keratolytic winter erythema
KWE is an autosomal dominant, monogenic disorder with high penetrance. Families with KWE have been described mostly from SA ... Candidate gene analysis and gene expression. The two genes identified within the KWE critical region as being the most likely ... Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16. Am J Hum Genet ... The genes found outside of the KWE region that showed CNV included MSRA, RP1L1, PINX1 and XKR6. These genes were further ...
  http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742013001200033&lng=en&nrm=iso&tlng=en
*  Next-Generation Sequencing Panels Cost-Effective for Diagnosis of Hereditary Colorectal Cancer - Cancer Therapy Advisor
Panel 2 included panel 1 plus genes associated with autosomal dominant CRCP syndromes with high penetrance; ... Panel 4 included panel 3 plus genes associated with autosomal dominant CRCP syndromes with low penetrance. ... Panel 3 included panel 2 plus genes associated with autosomal recessive CRCP syndromes with high penetrance; ... Researchers identified 4 classifier genes relevant to gastric cancer in 307 patients in an internal cohort. ...
  https://www.cancertherapyadvisor.com/gastrointestinal-cancers/colorectal-cancer-cost-effective-sequence-panel-diagnosis/article/414268/
*  neurofibromatosis (NF1) - Neurology - MedHelp
NF 1 has an autosomal dominant inheritance pattern with a high degree of penetrance. Meaning that there is a good chance of ... New Gene Discoveries Shed Light on Alzheimer's Two of the largest studies on Alzheimer's have yielded new clues about the ... What are the possibilities of identifying the affected gene (on chromosome 17) - in cases of new mutation? - in cases of prior ... The mutation probably results in a loss of function of the NF 1 gene product which is a protein that has been named ...
  http://www.medhelp.org/posts/Neurology/neurofibromatosis-NF1/show/893727
*  Gene Report for G00002031 - Genes2Cognition Neuroscience Research Programme
Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.. Cohn AC, Toomes C, Potter C, ... Gene id. G00002031. Gene symbol. OPA1 (HGNC). Species. Homo sapiens. Description. optic atrophy 1 (autosomal dominant). ... OPA1, the gene responsible for autosomal dominant optic atrophy, represents a good candidate gene for glaucoma, as there are ... OPA1, the gene responsible for autosomal dominant optic atrophy represents an excellent candidate gene for NTG, as the clinical ...
  http://www.genes2cognition.org/db/Gene/G00002031
*  SHFM1 locus limb malformation aetiology | Philosophical Transactions of the Royal Society B: Biological Sciences
... an autosomal-dominant, incomplete penetrance and haploinsufficiency model for DLX gene regulation has been proposed in numerous ... As stated before, the model of autosomal-dominant, incomplete penetrance with variable expression of DLX5 has been proposed in ... Thus, in a novel way SSIS explains all the unexplained features of the autosomal-dominant, incomplete penetrance and ... Concerning an unrelated issue in humans, approximately 3% to 5% of autosomal genes undergo monoallelic gene expression, and ...
  http://rstb.royalsocietypublishing.org/content/371/1710/20150415
*  Familial Dilated Cardiomyopathy - Renal and Urology News
Most gene mutations in autosomal dominant DCM have a high penetrance (i.e., genotype-positive family members will eventually ... It has been estimated that at least 90% DCM families will show autosomal dominant inheritance. X-linked, autosomal recessive, ... Autosomal dominant or X-linked? In X-linked DCM, young males characteristically have rapidly progressive DCM and female ... With autosomal dominant inheritance, males and females are equally affected and there is a 50% chance that each child of an ...
  https://www.renalandurologynews.com/cardiology/familial-dilated-cardiomyopathy/article/583658/
*  Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement | Journal of Medical Genetics
An average penetrance of 0.9 or higher, with a cut-point at the 95th percentile, was only observed for LDLR nonsense mutations ... Aims Autosomal-dominant hypercholesterolaemia (ADH) is a heterogeneous common disorder, and uncovering the molecular ... The disease penetrance is generally set at 0.9. These parameters were evaluated in 10 000 carriers of true pathogenic APOB and ... For APOB and LDLR missense mutations, a disease penetrance of 0.9 or higher is only expected, when total cholesterol and low- ...
  http://jmg.bmj.com/content/52/2/80
*  glossary:autosomal dominant inheritance
The concept of reduced penetrance is particularly important in the case of autosomal dominant cancer susceptibility genes. If a ... glossary:autosomal_dominant_inheritance. A gene on one of the first 22 pairs of chromosomes, which, when present in one copy, ... However, with autosomal dominant inheritance, if a parent does not have the gene mutation associated with cancer risk in the ... Autosomal dominant inheritance means that the gene carrying a mutation is located on one of the autosomes (chromosome pairs 1 ...
  http://www.lymphedemapeople.com/wiki/doku.php?id=glossary:autosomal_dominant_inheritance
*  A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome | Journal of Medical Genetics
... assuming an autosomal dominant model with full penetrance and the gene frequency of 0.001.. ... Mutations in the HOXA13 gene have been shown to cause hand-foot-genital syndrome (HFGS). HFGS is a rare autosomal dominant ... Hand-foot-genital syndrome (HFGS) is an autosomal dominant syndrome that may include hypospadias.14,15 HFGS is characterised by ... Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias. Am J Med Genet1993;46:219-22. ...
  http://jmg.bmj.com/content/40/4/e49
*  Non-random transmission of mutant alleles to female offspring of BRCA1 carriers in Poland | Journal of Medical Genetics
Constitutional mutations in the BRCA1 gene predispose to an autosomal dominant syndrome of breast and ovarian cancer. The ... it is therefore possible to estimate age-specific penetrance values of the BRCA1 gene by counting the relative number of ... lifetime penetrance of BRCA1 gene mutations is high; approximately 50% of women with mutations will be affected by cancer by ... For example, if the gene is 50% penetrant by by the age of 50 years, then one third of a sample of healthy 50 year old female ...
  http://jmg.bmj.com/content/40/9/719
*  The heart in hereditary transthyretin amyloidosis : clinical studies on the impact of amyloid fibril composition
The disease is inherited in an autosomal dominant manner with a varying penetrance. It is caused by mutations in the ... transthyretin (TTR) gene. Today more than 100 disease causing mutations are known. The V30M mutation that is endemic in ...
  http://umu.diva-portal.org/smash/record.jsf?pid=diva2%3A1141459&dswid=6270
*  Von Willebrand disease | definition of von Willebrand disease by Medical dictionary
Autosomal dominant - A pattern of genetic inheritance where only one abnormal gene is needed to display the trait or disease. ... autosomal dominant inheritance with reduced penetrance and variable expressivity, caused by mutation in the von Willebrand ... A person with an autosomal dominant form of VWD has a 50% chance of passing the changed gene on to his or her children who may ... Most cases of Type 2 VWD are autosomal dominant since they are caused by a change in only one vWF gene that results in the ...
  http://medical-dictionary.thefreedictionary.com/von+Willebrand+disease
*  New Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 13 | Circulation
... we assumed an autosomal dominant mode of inheritance with incomplete penetrance and a disease gene frequency of 0.005, with a ... 23 familial MVP appears to segregate as an autosomal dominant trait with decreased penetrance.10,11,21,22 However, we ... A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4. Am J Hum Genet. 2003; 72: 1551-1559. ... New Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 13. Francesca Nesta, Maire Leyne, Chaim Yosefy, Charles ...
  http://circ.ahajournals.org/content/112/13/2022
*  Fgfr-Related Craniosynostosis Syndromes disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Penetrance Fgfr-related coronal synostosis is usually autosomal dominant with reduced penetrance.... ... Gene. Variation. Type. Significance. SNP ID. Assembly. Location. 1. FGFR2 NM_022970.3(FGFR2): c.755C, G (p.Ser252Trp) single ... An important gene associated with Fgfr-Related Craniosynostosis Syndromes is RHBDF1 (Rhomboid 5 Homolog 1). Affiliated tissues ... Diseases related to Fgfr-Related Craniosynostosis Syndromes via text searches within MalaCards or GeneCards Suite gene sharing: ...
  http://www.malacards.org/card/fgfr_related_craniosynostosis_syndromes
*  Clinical Variability in Marfan Syndrome - Full Text View - ClinicalTrials.gov
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1). ... Penetrance of FBN1 mutations is complete but intra and inter familial clinical expressivity is extremely variable. The ... Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1). ... Correlations' Study Between Variability of Expression in FBN1 Gene and Clinical Features in Marfan Patients.. ...
  https://clinicaltrials.gov/ct2/show/NCT01707563?cond=%22Marfan+syndrome%22&rank=7
*  Polycystic Kidney Disease 2 - CAGS
The disorder follows an autosomal dominant pattern of inheritance with incomplete penetrance. It is caused by heterozygous ... This gene encodes a large-conductance nonselective calcium-permeable cation channel that is located in renal epithelial cells ... The autosomal dominant form of polycystic kidney disease affects 1 in 500-1000 individuals. It has a later onset, with symptoms ... www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-dominant-pkd ...
  http://www.cags.org.ae/ctga/details.aspx?id=2339&pg=9&se=Latest