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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 38"
Page 1
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. Velmans C, et al. J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321323 Free PMC article.
BACKGROUND: O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, mostly truncating variants in KMT2E. It was first described by O'Donnell-Luria et al in 2019 in a cohort of 38 patients. Clinical fe …
BACKGROUND: O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, …
Rubinstein-Taybi syndrome in diverse populations.
Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, Gupta N, Moresco A, Huckstadt V, Ashaat EA, Hussen DF, Luk HM, Lo IFM, Hon-Yin Chung B, Fung JLF, Moretti-Ferreira D, Batista LC, Lotz-Esquivel S, Saborio-Rocafort M, Badilla-Porras R, Penon Portmann M, Jones KL, Abdul-Rahman OA, Uwineza A, Prijoles EJ, Ifeorah IK, Llamos Paneque A, Sirisena ND, Dowsett L, Lee S, Cappuccio G, Kitchin CS, Diaz-Kuan A, Thong MK, Obregon MG, Mutesa L, Dissanayake VHW, El Ruby MO, Brunetti-Pierri N, Ekure EN, Stevenson RE, Muenke M, Kruszka P. Tekendo-Ngongang C, et al. Am J Med Genet A. 2020 Dec;182(12):2939-2950. doi: 10.1002/ajmg.a.61888. Epub 2020 Sep 27. Am J Med Genet A. 2020. PMID: 32985117
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. …
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Af …
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 …
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S, Beyyumi E, Al Kaabi A, Hertecant J, Barakat D, Al Dhaheri NS, Al-Gazali L, Al Shamsi A. Saleh S, et al. Clin Genet. 2021 Nov;100(5):573-600. doi: 10.1111/cge.14044. Epub 2021 Aug 19. Clin Genet. 2021. PMID: 34374989
Consanguinity was documented in 139 patients with positive molecular diagnoses (139/197, 70.5%). Sixty nine (35% [69/197]) patients had autosomal dominant disorders, majority were De Novo (84%). Ninety-five (48% [95/197]) patients had autosomal recessive dise …
Consanguinity was documented in 139 patients with positive molecular diagnoses (139/197, 70.5%). Sixty nine (35% [69/197]) patients had a …
Congenital genitourinary abnormalities in children with Williams-Beuren syndrome.
Sammour ZM, Gomes CM, de Bessa J Jr, Pinheiro MS, Kim CA, Hisano M, Bruschini H, Srougi M. Sammour ZM, et al. J Pediatr Urol. 2014 Oct;10(5):804-9. doi: 10.1016/j.jpurol.2014.01.013. Epub 2014 Feb 13. J Pediatr Urol. 2014. PMID: 24582571
OBJECTIVE: Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. ...MATERIALS AND METHODS: We prospectively evaluated 41 boys and 38 girls with WBS, with a mean age of 8.8 4.1 (range 3-19 years). ...
OBJECTIVE: Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. . …
Kidney Transplantation in a Patient With Tuberous Sclerosis Complex: A Case Report.
Kluz A, Gozdowska J, Domagała P, Durlik M. Kluz A, et al. Transplant Proc. 2022 May;54(4):1148-1151. doi: 10.1016/j.transproceed.2022.02.055. Epub 2022 Apr 14. Transplant Proc. 2022. PMID: 35430095
Procedures such as hemodialysis and peritoneal dialysis were infeasible to perform due to the intellectual disability that inhibits essential cooperation. During KTx qualification tests, the expanding AML with risk of hemorrhage was noticed. ...The patient's creatin …
Procedures such as hemodialysis and peritoneal dialysis were infeasible to perform due to the intellectual disability that inh …
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
Minardi R, Licchetta L, Baroni MC, Pippucci T, Stipa C, Mostacci B, Severi G, Toni F, Bergonzini L, Carelli V, Seri M, Tinuper P, Bisulli F. Minardi R, et al. Clin Genet. 2020 Nov;98(5):477-485. doi: 10.1111/cge.13823. Epub 2020 Sep 1. Clin Genet. 2020. PMID: 32725632
WES disclosed 24 (likely) pathogenic variants among 18 patients in epilepsy-related genes with either autosomal dominant, recessive or X-linked inheritance. Ten of these were novel. We obtained a diagnostic yield of 25.3%, higher among patients with brain malformati …
WES disclosed 24 (likely) pathogenic variants among 18 patients in epilepsy-related genes with either autosomal dominant, rece …
Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms.
Trelles MP, Levy T, Lerman B, Siper P, Lozano R, Halpern D, Walker H, Zweifach J, Frank Y, Foss-Feig J, Kolevzon A, Buxbaum J. Trelles MP, et al. Mol Autism. 2021 Sep 29;12(1):61. doi: 10.1186/s13229-021-00469-z. Mol Autism. 2021. PMID: 34588003 Free PMC article.
BACKGROUND: FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, speech and language delays, and externalizing behaviors. ...We report results from this cohort both alone, an …
BACKGROUND: FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disabi …
Williams-Beuren syndrome: an update and review for the primary physician.
Lashkari A, Smith AK, Graham JM Jr. Lashkari A, et al. Clin Pediatr (Phila). 1999 Apr;38(4):189-208. doi: 10.1177/000992289903800401. Clin Pediatr (Phila). 1999. PMID: 10326175 Review.
Williams-Beuren syndrome is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7. ...
Williams-Beuren syndrome is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the …
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Carlston CM, O'Donnell-Luria AH, Underhill HR, Cummings BB, Weisburd B, Minikel EV, Birnbaum DP; Exome Aggregation Consortium; Tvrdik T, MacArthur DG, Mao R. Carlston CM, et al. Hum Mutat. 2017 May;38(5):517-523. doi: 10.1002/humu.23203. Epub 2017 Mar 21. Hum Mutat. 2017. PMID: 28229513 Free PMC article. Review.
Pathogenic variants in genes associated with severe, pediatric-onset, highly penetrant, autosomal dominant conditions are assumed to be absent or rare in these databases. ...
Pathogenic variants in genes associated with severe, pediatric-onset, highly penetrant, autosomal dominant conditions are assu …
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