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PUBMED FOR HANDHELDS

Journal Abstract Search

306 related items for PubMed ID: 30929739

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  • 44. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
    Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan KG, Poretti A, Wilson AL, Chung WK, Fatemi A.
    Clin Genet; 2017 May; 91(5):697-707. PubMed ID: 27598823
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  • 45. 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; 98(6):606-612. PubMed ID: 32812661
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  • 47. Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.
    Slavotinek A, van Hagen JM, Kalsner L, Pai S, Davis-Keppen L, Ohden L, Weber YG, Macke EL, Klee EW, Morava E, Gunderson L, Person R, Liu S, Weiss M.
    Eur J Med Genet; 2020 Apr; 63(4):103850. PubMed ID: 31954878
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  • 49. Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.
    Valenzuela I, Codina M, Fernández-Álvarez P, Mur P, Valle L, Tizzano EF, Cuscó I.
    Am J Med Genet A; 2020 Nov; 182(11):2742-2745. PubMed ID: 32896090
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  • 51. A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review.
    Han JY, Park J.
    Genes (Basel); 2021 Sep 07; 12(9):. PubMed ID: 34573370
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  • 52. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
    Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF, Deciphering Developmental Disorders StudyDeciphering Developmental Disorders Study, Wellcome Sanger Institute, Cambridge CB10 1SA, UK., van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM.
    Am J Hum Genet; 2019 Apr 04; 104(4):709-720. PubMed ID: 30905399
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  • 53. Mutations in ARID2 are associated with intellectual disabilities.
    Shang L, Cho MT, Retterer K, Folk L, Humberson J, Rohena L, Sidhu A, Saliganan S, Iglesias A, Vitazka P, Juusola J, O'Donnell-Luria AH, Shen Y, Chung WK.
    Neurogenetics; 2015 Oct 04; 16(4):307-14. PubMed ID: 26238514
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  • 54. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
    Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH, Undiagnosed Diseases Network, Campeau PM.
    Am J Hum Genet; 2019 Jan 03; 104(1):164-178. PubMed ID: 30580808
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  • 55. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
    Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB, Fry AE, Ragge N, Sharif S, Foster A, De Sandre-Giovannoli A, Elouej S, Vasudevan P, Mansour S, Wilson K, Stewart H, Heide S, Nava C, Keren B, Demirdas S, Brooks AS, Vincent M, Isidor B, Küry S, Schouten M, Leenders E, Chung WK, Haeringen AV, Scheffner T, Debray FG, White SM, Palafoll MIV, Pfundt R, Newbury-Ecob R, Kleefstra T.
    Eur J Hum Genet; 2021 Apr 03; 29(4):625-636. PubMed ID: 33437032
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  • 56. Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family.
    Lindholm Carlström E, Halvardson J, Etemadikhah M, Wetterberg L, Gustavson KH, Feuk L.
    BMC Med Genomics; 2019 Nov 06; 12(1):156. PubMed ID: 31694657
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  • 57. Clinical and molecular spectrum of CHOPS syndrome.
    Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K.
    Am J Med Genet A; 2019 Jul 06; 179(7):1126-1138. PubMed ID: 31058441
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  • 58. A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism.
    Del Refugio Rivera-Vega M, Gómez-Del Angel LA, Valdes-Miranda JM, Pérez-Cabrera A, Gonzalez-Huerta LM, Toral-López J, Cuevas-Covarrubias S.
    Cytogenet Genome Res; 2015 Jul 06; 145(1):1-5. PubMed ID: 25870946
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  • 59. 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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  • 60. Human phenotype caused by biallelic KDM4B frameshift variant.
    Takada S, Silva S, Zamorano I, Pérez A, Iwabuchi C, Miyake N.
    Clin Genet; 2024 Jan 01; 105(1):72-76. PubMed ID: 37526414
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