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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 46"
Page 1
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. ...Common clinical features identified in the cohort included: developmental del …
Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized b …
Association of Alzheimer Disease With Life Expectancy in People With Down Syndrome.
Iulita MF, Garzón Chavez D, Klitgaard Christensen M, Valle Tamayo N, Plana-Ripoll O, Rasmussen SA, Roqué Figuls M, Alcolea D, Videla L, Barroeta I, Benejam B, Altuna M, Padilla C, Pegueroles J, Fernandez S, Belbin O, Carmona-Iragui M, Blesa R, Lleó A, Bejanin A, Fortea J. Iulita MF, et al. JAMA Netw Open. 2022 May 2;5(5):e2212910. doi: 10.1001/jamanetworkopen.2022.12910. JAMA Netw Open. 2022. PMID: 35604690 Free PMC article.
OBJECTIVE: To assess whether the variability in symptom onset of Alzheimer disease in Down syndrome is similar to autosomal dominant Alzheimer disease and to assess its association with mortality. ...The variability in disease onset was compared with that of auto …
OBJECTIVE: To assess whether the variability in symptom onset of Alzheimer disease in Down syndrome is similar to autosomal domina …
Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape.
David D, Freixo JP, Fino J, Carvalho I, Marques M, Cardoso M, Piña-Aguilar RE, Morton CC. David D, et al. Hum Genet. 2020 Apr;139(4):531-543. doi: 10.1007/s00439-020-02121-x. Epub 2020 Feb 6. Hum Genet. 2020. PMID: 32030560 Free PMC article.
Retrospective analysis of four phenotype-associated dnSVs identified during conventional PND precisely reveal the genomic elements disrupted by the translocation breakpoints. Identification of autosomal dominant disease due to the disruption of ANKS1B and WDR26 by t …
Retrospective analysis of four phenotype-associated dnSVs identified during conventional PND precisely reveal the genomic elements disrupted …
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
Prasad A, Sdano MA, Vanzo RJ, Mowery-Rushton PA, Serrano MA, Hensel CH, Wassman ER. Prasad A, et al. BMC Med Genet. 2018 Mar 20;19(1):46. doi: 10.1186/s12881-018-0555-3. BMC Med Genet. 2018. PMID: 29554876 Free PMC article.
These patients were referred to our clinical laboratory for a variety of neurodevelopmental conditions including autism spectrum disorder, developmental delay, epilepsy, intellectual disability and microcephaly. RESULTS: In 11.3% (6/53) of cases, the analysis of hom …
These patients were referred to our clinical laboratory for a variety of neurodevelopmental conditions including autism spectrum disorder, d …
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S. Jones GE, et al. Eur J Hum Genet. 2014 Jul;22(7):881-7. doi: 10.1038/ejhg.2013.263. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281367 Free PMC article.
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified. ...In our cohort, 86% had microcephaly, 78% had an ocular abnor …
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dom …
First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia.
Fazio G, Massa V, Grioni A, Bystry V, Rigamonti S, Saitta C, Galbiati M, Rizzari C, Consarino C, Biondi A, Selicorni A, Cazzaniga G. Fazio G, et al. J Clin Pathol. 2019 Aug;72(8):558-561. doi: 10.1136/jclinpath-2019-205707. Epub 2019 Apr 4. J Clin Pathol. 2019. PMID: 30948435
Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant genetic disorder characterised by prenatal and postnatal growth and mental retardation, facial dysmorphism and upper limb abnormalities. ...The patient did not show any unusual cytogenetic abnormality, a …
Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant genetic disorder characterised by prenatal and postnatal growth …
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Eur J Hum Genet. 2006 Dec;14(12):1274-9. doi: 10.1038/sj.ejhg.5201696. Epub 2006 Aug 9. Eur J Hum Genet. 2006. PMID: 16896345
Ulnar-mammary syndrome (UMS) is a rare autosomal-dominant disorder caused by mutations in TBX3. The condition is characterized by hypoplasia or aplasia of upper limbs on the ulnar side, mammary glands and nipples, and of apocrine glands in both sexes (MIM #181450). …
Ulnar-mammary syndrome (UMS) is a rare autosomal-dominant disorder caused by mutations in TBX3. The condition is characterized …
Proximal 6q interstitial deletion without severe mental retardation.
Myers SM, Challman TD. Myers SM, et al. Genet Couns. 2005;16(3):269-76. Genet Couns. 2005. PMID: 16259324
Her receptive language skills tested in the average range. In recent years. several forms of autosomal dominant drusen and macular degeneration have been mapped to 6q14, and substantial variability in clinical expression has been described. ...This information may b …
Her receptive language skills tested in the average range. In recent years. several forms of autosomal dominant drusen and mac …
A novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A caused Wiedemann-Steiner Syndrome in a Chinese boy with postnatal growth retardation: a case report.
Chen M, Liu R, Wu C, Li X, Wang Y. Chen M, et al. Mol Biol Rep. 2019 Oct;46(5):5555-5559. doi: 10.1007/s11033-019-04936-y. Epub 2019 Jun 27. Mol Biol Rep. 2019. PMID: 31250358
Wiedemann-Steiner Syndrome (WSS) is a very rare autosomal dominant disease. Mutations in the KMT2A gene have been shown to cause this disease. ...Whole-exome sequencing showed a novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A, which confirmed the diagnosi …
Wiedemann-Steiner Syndrome (WSS) is a very rare autosomal dominant disease. Mutations in the KMT2A gene have been shown to cau …
An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967.
Laxova R, Ridler MA, Bowen-Bravery M. Laxova R, et al. Am J Med Genet. 1977;1(1):75-86. doi: 10.1002/ajmg.1320010109. Am J Med Genet. 1977. PMID: 147626
One hundred and forty-six children (87 boys and 59 girls) were ascertained, out of a total population of 46,960, with a prevalence of 1 in 320 or 3.1 per 1,000. Approximately 1/3 (47) had the Down syndrome, 1 per 1,000 population. It was possible to establish a diagnosis i …
One hundred and forty-six children (87 boys and 59 girls) were ascertained, out of a total population of 46,960, with a prevalence of …
11 results