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Journal Abstract Search

418 related items for PubMed ID: 31721002

  • 1. Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.
    Ben-Mahmoud A, Al-Shamsi AM, Ali BR, Al-Gazali L.
    J Mol Neurosci; 2020 Mar; 70(3):320-327. PubMed ID: 31721002
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  • 2. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
    Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A.
    Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
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  • 3. De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
    Nicola P, Blackburn PR, Rasmussen KJ, Bertsch NL, Klee EW, Hasadsri L, Pichurin PN, Rankin J, Raymond FL, DDD StudyDeciphering Developmental Disorders Study (DDD), Wellcome Sanger Institute, Cambridge, United Kingdom., Clayton-Smith J.
    Am J Med Genet A; 2019 Apr; 179(4):570-578. PubMed ID: 30734472
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  • 4. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
    Sollis E, Graham SA, Vino A, Froehlich H, Vreeburg M, Dimitropoulou D, Gilissen C, Pfundt R, Rappold GA, Brunner HG, Deriziotis P, Fisher SE.
    Hum Mol Genet; 2016 Feb 01; 25(3):546-57. PubMed ID: 26647308
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  • 5. Exome sequencing identifies three novel candidate genes implicated in intellectual disability.
    Agha Z, Iqbal Z, Azam M, Ayub H, Vissers LE, Gilissen C, Ali SH, Riaz M, Veltman JA, Pfundt R, van Bokhoven H, Qamar R.
    PLoS One; 2014 Feb 01; 9(11):e112687. PubMed ID: 25405613
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  • 7. Is MED13L-related intellectual disability a recognizable syndrome?
    Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshøj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR.
    Eur J Med Genet; 2019 Feb 01; 62(2):129-136. PubMed ID: 29959045
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  • 8. A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.
    Binaafar S, Razmara E, Mahdieh N, Sahebjame H, Tavasoli AR, Garshasbi M.
    Eur J Med Genet; 2020 May 01; 63(5):103853. PubMed ID: 31978613
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  • 9. De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.
    Powis Z, Petrik I, Cohen JS, Escolar D, Burton J, van Ravenswaaij-Arts CMA, Sival DA, Stegmann APA, Kleefstra T, Pfundt R, Chikarmane R, Begtrup A, Huether R, Tang S, Shinde DN.
    Clin Genet; 2018 May 01; 93(5):1030-1038. PubMed ID: 29251763
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  • 13. Clinical use of whole exome sequencing in children with developmental delay/intellectual disability.
    Jo YH, Choi SH, Yoo HW, Kwak MJ, Park KH, Kong J, Lee YJ, Nam SO, Lee BL, Chung WY, Oh SH, Kim YM.
    Pediatr Neonatol; 2024 Sep 01; 65(5):445-450. PubMed ID: 38281861
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  • 15. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
    Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S, Undiagnosed Diseases Network, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X.
    Am J Hum Genet; 2018 Jul 05; 103(1):154-162. PubMed ID: 29961569
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  • 20. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
    van den Akker WMR, Brummelman I, Martis LM, Timmermans RN, Pfundt R, Kleefstra T, Willemsen MH, Gerkes EH, Herkert JC, van Essen AJ, Rump P, Vansenne F, Terhal PA, van Haelst MM, Cristian I, Turner CE, Cho MT, Begtrup A, Willaert R, Fassi E, van Gassen KLI, Stegmann APA, de Vries BBA, Schuurs-Hoeijmakers JHM.
    Clin Genet; 2018 May 05; 93(5):1000-1007. PubMed ID: 29393965
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