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Journal Abstract Search

165 related items for PubMed ID: 31804630

  • 1. A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder.
    Tessadori F, Rehman AU, Giltay JC, Xia F, Streff H, Duran K, Bakkers J, Lalani SR, van Haaften G.
    Eur J Hum Genet; 2020 May; 28(5):674-678. PubMed ID: 31804630
    [Abstract] [Full Text] [Related]

  • 2. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
    Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.
    Genome Med; 2019 Feb 28; 11(1):12. PubMed ID: 30819258
    [Abstract] [Full Text] [Related]

  • 3. Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.
    Tessadori F, Giltay JC, Hurst JA, Massink MP, Duran K, Vos HR, van Es RM, Deciphering Developmental Disorders Study, Scott RH, van Gassen KLI, Bakkers J, van Haaften G.
    Nat Genet; 2017 Nov 28; 49(11):1642-1646. PubMed ID: 28920961
    [Abstract] [Full Text] [Related]

  • 4. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
    Fan Y, Yin W, Hu B, Kline AD, Zhang VW, Liang D, Sun Y, Wang L, Tang S, Powis Z, Li L, Yan H, Shi Z, Yang X, Chen Y, Wang J, Jiang Y, Tan H, Gu X, Wu L, Yu Y.
    Am J Hum Genet; 2018 Sep 06; 103(3):448-455. PubMed ID: 30122539
    [Abstract] [Full Text] [Related]

  • 5. 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 06; 62(2):129-136. PubMed ID: 29959045
    [Abstract] [Full Text] [Related]

  • 6. De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
    Reis LM, Sorokina EA, Thompson S, Muheisen S, Velinov M, Zamora C, Aylsworth AS, Semina EV.
    Am J Hum Genet; 2019 Aug 01; 105(2):425-433. PubMed ID: 31327510
    [Abstract] [Full Text] [Related]

  • 7. Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
    Ansar M, Ullah F, Paracha SA, Adams DJ, Lai A, Pais L, Iwaszkiewicz J, Millan F, Sarwar MT, Agha Z, Shah SF, Qaisar AA, Falconnet E, Zoete V, Ranza E, Makrythanasis P, Santoni FA, Ahmed J, Katsanis N, Walsh C, Davis EE, Antonarakis SE.
    Am J Hum Genet; 2019 Jun 06; 104(6):1073-1087. PubMed ID: 31079899
    [Abstract] [Full Text] [Related]

  • 8. 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 06; 70(3):320-327. PubMed ID: 31721002
    [Abstract] [Full Text] [Related]

  • 9. Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.
    Maini I, Caraffi SG, Peluso F, Valeri L, Nicoli D, Laurie S, Baldo C, Zuffardi O, Garavelli L.
    Genes (Basel); 2021 Jun 10; 12(6):. PubMed ID: 34200686
    [Abstract] [Full Text] [Related]

  • 10. H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.
    Borja N, Borjas-Mendoza P, Bivona S, Peart L, Gonzalez J, Johnson BK, Guo S, Yusupov R, Undiagnosed Diseases Network, Bademci G, Tekin M.
    Am J Med Genet A; 2023 Jul 10; 191(7):1911-1916. PubMed ID: 36987712
    [Abstract] [Full Text] [Related]

  • 11. 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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  • 16. A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.
    Imagawa E, Konuma T, Cork EE, Diaz GA, Oishi K.
    Clin Genet; 2020 Dec 01; 98(6):606-612. PubMed ID: 32812661
    [Abstract] [Full Text] [Related]

  • 17. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
    Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J, UCLA Clinical Genomics Center, Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S.
    Am J Hum Genet; 2021 Jul 01; 108(7):1330-1341. PubMed ID: 34102099
    [Abstract] [Full Text] [Related]

  • 18. Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.
    Qiao Y, Bagheri H, Tang F, Badduke C, Martell S, Lewis SME, Robinson W, Connolly MB, Arbour L, Rajcan-Separovic E.
    Eur J Med Genet; 2019 Feb 01; 62(2):103-108. PubMed ID: 29908350
    [Abstract] [Full Text] [Related]

  • 19. A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene.
    Tan L, Li Y, Liu F, Huang Y, Luo S, Zhao P, Gu W, Lin J, Zhou A, He X.
    Mol Genet Genomic Med; 2021 Feb 01; 9(2):e1582. PubMed ID: 33369188
    [Abstract] [Full Text] [Related]

  • 20. The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant.
    Ogura Y, Uehara T, Ujibe K, Yoshihashi H, Yamada M, Suzuki H, Takenouchi T, Kosaki K, Hirata H.
    Am J Med Genet A; 2022 Apr 01; 188(4):1184-1192. PubMed ID: 35018717
    [Abstract] [Full Text] [Related]

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