173 related articles for article (PubMed ID: 31823155)
21. Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.
Mullegama SV; Alaimo JT; Chen L; Elsea SH
Int J Mol Sci; 2015 Apr; 16(4):7627-43. PubMed ID: 25853262
[TBL] [Abstract][Full Text] [Related]
22. CHD8 intragenic deletion associated with autism spectrum disorder.
Stolerman ES; Smith B; Chaubey A; Jones JR
Eur J Med Genet; 2016 Apr; 59(4):189-94. PubMed ID: 26921529
[TBL] [Abstract][Full Text] [Related]
23. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A; Mignot C; Sigafoos A; Blackburn PR; Haseeb A; McWalter K; Ichikawa S; Nava C; Keren B; Charles P; Marey I; Tabet AC; Levy J; Perrin L; Hartmann A; Lesca G; Schluth-Bolard C; Monin P; Dupuis-Girod S; Guillen Sacoto MJ; Schnur RE; Zhu Z; Poisson A; El Chehadeh S; Alembik Y; Bruel AL; Lehalle D; Nambot S; Moutton S; Odent S; Jaillard S; Dubourg C; Hilhorst-Hofstee Y; Barbaro-Dieber T; Ortega L; Bhoj EJ; Masser-Frye D; Bird LM; Lindstrom K; Ramsey KM; Narayanan V; Fassi E; Willing M; Cole T; Salter CG; Akilapa R; Vandersteen A; Canham N; Rump P; Gerkes EH; Klein Wassink-Ruiter JS; Bijlsma E; Hoffer MJV; Vargas M; Wojcik A; Cherik F; Francannet C; Rosenfeld JA; Machol K; Scott DA; Bacino CA; Wang X; Clark GD; Bertoli M; Zwolinski S; Thomas RH; Akay E; Chang RC; Bressi R; Sanchez Russo R; Srour M; Russell L; Goyette AE; Dupuis L; Mendoza-Londono R; Karimov C; Joseph M; Nizon M; Cogné B; Kuechler A; Piton A; ; Klee EW; Lefebvre V; Clark KJ; Depienne C
Genet Med; 2020 Mar; 22(3):524-537. PubMed ID: 31578471
[TBL] [Abstract][Full Text] [Related]
24. De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
An Y; Zhang L; Liu W; Jiang Y; Chen X; Lan X; Li G; Hang Q; Wang J; Gusella JF; Du Y; Shen Y
Hum Genet; 2020 Apr; 139(4):499-512. PubMed ID: 31980904
[TBL] [Abstract][Full Text] [Related]
25. Autism spectrum disorder early in development associated with CHD8 mutations among two Chinese children.
Wang J; Liu J; Gao Y; Wang K; Jiang K
BMC Pediatr; 2018 Oct; 18(1):338. PubMed ID: 30376831
[TBL] [Abstract][Full Text] [Related]
26. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.
Sugathan A; Biagioli M; Golzio C; Erdin S; Blumenthal I; Manavalan P; Ragavendran A; Brand H; Lucente D; Miles J; Sheridan SD; Stortchevoi A; Kellis M; Haggarty SJ; Katsanis N; Gusella JF; Talkowski ME
Proc Natl Acad Sci U S A; 2014 Oct; 111(42):E4468-77. PubMed ID: 25294932
[TBL] [Abstract][Full Text] [Related]
27. CHD8 haploinsufficiency results in autistic-like phenotypes in mice.
Katayama Y; Nishiyama M; Shoji H; Ohkawa Y; Kawamura A; Sato T; Suyama M; Takumi T; Miyakawa T; Nakayama KI
Nature; 2016 Sep; 537(7622):675-679. PubMed ID: 27602517
[TBL] [Abstract][Full Text] [Related]
28. Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life.
Jiménez JA; Ptacek TS; Tuttle AH; Schmid RS; Moy SS; Simon JM; Zylka MJ
Mol Autism; 2020 Oct; 11(1):74. PubMed ID: 33023670
[TBL] [Abstract][Full Text] [Related]
29. Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.
Breckpot J; Vercruyssen M; Weyts E; Vandevoort S; D'Haenens G; Van Buggenhout G; Leempoels L; Brischoux-Boucher E; Van Maldergem L; Renieri A; Mencarelli MA; D'Angelo C; Mericq V; Hoffer MJ; Tauber M; Molinas C; Castiglioni C; Brison N; Vermeesch JR; Danckaerts M; Sienaert P; Devriendt K; Vogels A
Eur J Med Genet; 2016 Sep; 59(9):436-43. PubMed ID: 27519580
[TBL] [Abstract][Full Text] [Related]
30. Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review.
Hanly C; Shah H; Au PYB; Murias K
Clin Genet; 2021 Mar; 99(3):335-346. PubMed ID: 33179249
[TBL] [Abstract][Full Text] [Related]
31. Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Picinelli C; Lintas C; Piras IS; Gabriele S; Sacco R; Brogna C; Persico AM
Am J Med Genet B Neuropsychiatr Genet; 2016 Dec; 171(8):1088-1098. PubMed ID: 27566550
[TBL] [Abstract][Full Text] [Related]
32. 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.
Bouassida M; Egloff M; Levy J; Chatron N; Bernardini L; Le Guyader G; Tabet AC; Schluth-Bolard C; Brancati F; Giuffrida MG; Dard R; Clorennec J; Coursimault J; Vialard F; Hervé B
Eur J Hum Genet; 2023 Aug; 31(8):895-904. PubMed ID: 37188826
[TBL] [Abstract][Full Text] [Related]
33. A de novo variant of CHD8 in a patient with autism spectrum disorder.
Alotaibi M; Ramzan K
Discoveries (Craiova); 2020 Mar; 8(1):e107. PubMed ID: 32309624
[TBL] [Abstract][Full Text] [Related]
34. Oligodendrocyte dysfunction due to Chd8 mutation gives rise to behavioral deficits in mice.
Kawamura A; Katayama Y; Nishiyama M; Shoji H; Tokuoka K; Ueta Y; Miyata M; Isa T; Miyakawa T; Hayashi-Takagi A; Nakayama KI
Hum Mol Genet; 2020 May; 29(8):1274-1291. PubMed ID: 32142125
[TBL] [Abstract][Full Text] [Related]
35. 9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Bonati MT; Castronovo C; Sironi A; Zimbalatti D; Bestetti I; Crippa M; Novelli A; Loddo S; Dentici ML; Taylor J; Devillard F; Larizza L; Finelli P
Neurogenetics; 2019 Aug; 20(3):145-154. PubMed ID: 31209758
[TBL] [Abstract][Full Text] [Related]
36. Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes.
Beighley JS; Hudac CM; Arnett AB; Peterson JL; Gerdts J; Wallace AS; Mefford HC; Hoekzema K; Turner TN; O'Roak BJ; Eichler EE; Bernier RA
Biol Psychiatry; 2020 Jan; 87(2):123-131. PubMed ID: 31526516
[TBL] [Abstract][Full Text] [Related]
37. Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study.
Ramelli GP; Silacci C; Ferrarini A; Cattaneo C; Visconti P; Pescia G
Dev Med Child Neurol; 2008 Dec; 50(12):953-5. PubMed ID: 19046189
[TBL] [Abstract][Full Text] [Related]
38. The human chd8 gene is transcribed from two distant upstream promoters.
Kunkel GR; Lisciandro HG; Winter HL
Biochem Biophys Res Commun; 2020 Nov; 532(2):190-194. PubMed ID: 32854944
[TBL] [Abstract][Full Text] [Related]
39. Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.
Blazejewski SM; Bennison SA; Smith TH; Toyo-Oka K
Front Genet; 2018; 9():80. PubMed ID: 29628935
[TBL] [Abstract][Full Text] [Related]
40. Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Jeanne M; Vuillaume ML; Ung DC; Vancollie VE; Wagner C; Collins SC; Vonwill S; Haye D; Chelloug N; Pfundt R; Kummeling J; Moizard MP; Marouillat S; Kleefstra T; Yalcin B; Laumonnier F; Toutain A
Hum Genet; 2021 Jun; 140(6):885-896. PubMed ID: 33417013
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
