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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 29"
Page 1
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
These phenotypes, while less severe, are observed in haploinsufficient animals, suggesting that individuals carrying heterozygous SPTBN1 variants may also show measurable compromise of neural development and function. Here we identify heterozygous SPTBN1 variants in 29 ind …
These phenotypes, while less severe, are observed in haploinsufficient animals, suggesting that individuals carrying heterozygous SPTBN1 var …
Diagnostic Yield of Intellectual Disability Gene Panels.
Pekeles H, Accogli A, Boudrahem-Addour N, Russell L, Parente F, Srour M. Pekeles H, et al. Pediatr Neurol. 2019 Mar;92:32-36. doi: 10.1016/j.pediatrneurol.2018.11.005. Epub 2018 Nov 22. Pediatr Neurol. 2019. PMID: 30581057
BACKGROUND: Recent technological advances have improved the understanding and identification of the genetic basis of intellectual disability (ID) and global developmental delay (GDD). Next-generation sequencing panels of ID genes are now available for clinical testi …
BACKGROUND: Recent technological advances have improved the understanding and identification of the genetic basis of intellectual …
Novel SETBP1 mutation in a chinese family with intellectual disability.
Wang L, Wang XD, Yang B, Wang XM, Peng YQ, Tan HJ, Xiao HM. Wang L, et al. BMC Med Genomics. 2023 Oct 5;16(1):233. doi: 10.1186/s12920-023-01649-x. BMC Med Genomics. 2023. PMID: 37798664 Free PMC article.
BACKGROUND: Intellectual disability (ID) is characterized by an IQ < 70, which implies below-average intellectual function and a lack of skills necessary for daily living. ...

BACKGROUND: Intellectual disability (ID) is characterized by an IQ < 70, which implies below-average intellectual fu

…
Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability.
Hu J, Xu M, Zhu X, Zhang Y. Hu J, et al. Genes (Basel). 2022 May 2;13(5):813. doi: 10.3390/genes13050813. Genes (Basel). 2022. PMID: 35627197 Free PMC article.
Skraban-Deardorff syndrome is a rare autosomal dominant genetic disease caused by variants in the WDR26 gene. Here, we report two Chinese patients diagnosed with Skraban-Deardorff syndrome caused by novel de novo, heterozygous pathogenic WDR26 variants c.977delA (p. …
Skraban-Deardorff syndrome is a rare autosomal dominant genetic disease caused by variants in the WDR26 gene. Here, we report …
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G. Baer S, et al. Clin Genet. 2018 Jul;94(1):141-152. doi: 10.1111/cge.13254. Epub 2018 May 17. Clin Genet. 2018. PMID: 29574747 Review.
Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. ...Patients' molecular and clinical features were recorded and compared with the …
Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypert …
A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.
Park H, Kim MS, Kim J, Jang JH, Choi JM, Lee SM, Cho SY, Jin DK. Park H, et al. Neuro Endocrinol Lett. 2021 Jan;41(6):285-289. Neuro Endocrinol Lett. 2021. PMID: 33714239
Coffin-Siris syndrome (OMIM #135900) is an autosomal dominant inherited disorder, characterized by dysmorphic features, congenital anomalies, and developmental delay. ...Targeted gene panel sequencing identified a novel heterozygous frameshift mutation c.2147_2148in …
Coffin-Siris syndrome (OMIM #135900) is an autosomal dominant inherited disorder, characterized by dysmorphic features, congen …
The orocraniodigital syndrome of Juberg and Hayward.
Verloes A, Le Merrer M, Davin JC, Wittamer P, Abrassart C, Bricteux G, Briard ML. Verloes A, et al. J Med Genet. 1992 Apr;29(4):262-5. doi: 10.1136/jmg.29.4.262. J Med Genet. 1992. PMID: 1583649 Free PMC article. Review.
New features observed in our patients are severe mental impairment (not correlated with the severity of the malformations), anterior anal displacement, and ptosis. Recessive inheritance is likely, but autosomal dominant inheritance cannot yet be totally ruled out; t …
New features observed in our patients are severe mental impairment (not correlated with the severity of the malformations), anterior anal di …
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
Vetri L, Calì F, Saccone S, Vinci M, Chiavetta NV, Carotenuto M, Roccella M, Costanza C, Elia M. Vetri L, et al. Int J Mol Sci. 2024 Jan 17;25(2):1146. doi: 10.3390/ijms25021146. Int J Mol Sci. 2024. PMID: 38256219 Free PMC article.
The aim of this study is to evaluate the use of whole-exome sequencing (WES) as a first-line molecular genetic test in a sample of subjects with DEEs characterized by early-onset drug-resistant epilepsies, associated with global developmental delay and/or intellectual d …
The aim of this study is to evaluate the use of whole-exome sequencing (WES) as a first-line molecular genetic test in a sample of subjects …
Profiles of neuromuscular diseases. Limb-girdle syndromes.
McDonald CM, Johnson ER, Abresch RT, Carter GT, Fowler WM Jr, Kilmer DD. McDonald CM, et al. Am J Phys Med Rehabil. 1995 Sep-Oct;74(5 Suppl):S117-30. doi: 10.1097/00002060-199509001-00006. Am J Phys Med Rehabil. 1995. PMID: 7576419
Sixty-six individuals with Limb-Girdle Syndrome (LGS) were evaluated over a 10-yr period and classified into three types: 19 severe autosomal recessive muscular dystrophy of childhood (ARMDC), alternatively referred to by some as SCARMD, 18 autosomal dominant …
Sixty-six individuals with Limb-Girdle Syndrome (LGS) were evaluated over a 10-yr period and classified into three types: 19 severe autos …
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.
Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, Chehadeh SE, Mosca-Boidron AL, Thevenon J, Edery P, Alex-Cordier MP, Till M, Lyonnet S, Cormier-Daire V, Amiel J, Philippe A, Romana S, Malan V, Afenjar A, Marlin S, Chantot-Bastaraud S, Bitoun P, Heron B, Piparas E, Morice-Picard F, Moutton S, Chassaing N, Vigouroux-Castera A, Lespinasse J, Manouvrier-Hanu S, Boute-Benejean O, Vincent-Delorme C, Petit F, Meur NL, Marti-Dramard M, Guerrot AM, Goldenberg A, Redon S, Ferrec C, Odent S, Caignec CL, Mercier S, Gilbert-Dussardier B, Toutain A, Arpin S, Blesson S, Mortemousque I, Schaefer E, Martin D, Philip N, Sigaudy S, Busa T, Missirian C, Giuliano F, Benailly HK, Kien PK, Leheup B, Benneteau C, Lambert L, Caumes R, Kuentz P, François I, Heron D, Keren B, Cretin E, Callier P, Julia S, Faivre L. Lefebvre M, et al. Clin Genet. 2016 May;89(5):630-5. doi: 10.1111/cge.12696. Epub 2016 Jan 4. Clin Genet. 2016. PMID: 26582393 Free article.
Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. ...In order to anticipate the ethical issues of IF with the generalization of new genome-wide …
Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability …
15 results