331 related articles for article (PubMed ID: 34748075)
1. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J; Guerrot AM; Morrow MM; Schramm C; Zamora FM; Shanmugham A; Liu S; Zou F; Bilan F; Le Guyader G; Bruel AL; Denommé-Pichon AS; Faivre L; Tran Mau-Them F; Tessarech M; Colin E; El Chehadeh S; Gérard B; Schaefer E; Cogne B; Isidor B; Nizon M; Doummar D; Valence S; Héron D; Keren B; Mignot C; Coutton C; Devillard F; Alaix AS; Amiel J; Colleaux L; Munnich A; Poirier K; Rio M; Rondeau S; Barcia G; Callewaert B; Dheedene A; Kumps C; Vergult S; Menten B; Chung WK; Hernan R; Larson A; Nori K; Stewart S; Wheless J; Kresge C; Pletcher BA; Caumes R; Smol T; Sigaudy S; Coubes C; Helm M; Smith R; Morrison J; Wheeler PG; Kritzer A; Jouret G; Afenjar A; Deleuze JF; Olaso R; Boland A; Poitou C; Frebourg T; Houdayer C; Saugier-Veber P; Nicolas G; Lecoquierre F
Hum Genet; 2022 Jan; 141(1):65-80. PubMed ID: 34748075
[TBL] [Abstract][Full Text] [Related]
2. Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Windheuser IC; Becker J; Cremer K; Hundertmark H; Yates LM; Mangold E; Peters S; Degenhardt F; Ludwig KU; Zink AM; Lessel D; Bierhals T; Herget T; Johannsen J; Denecke J; Wohlleber E; Strom TM; Wieczorek D; Bertoli M; Colombo R; Hempel M; Engels H
Am J Med Genet A; 2020 May; 182(5):1021-1031. PubMed ID: 32065501
[TBL] [Abstract][Full Text] [Related]
3. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti I; Lehalle D; Nava C; Torti E; Leitão E; Person R; Mizuguchi T; Matsumoto N; Kato M; Nakamura K; de Man SA; Cope H; Shashi V; ; Friedman J; Joset P; Steindl K; Rauch A; Muffels I; van Hasselt PM; Petit F; Smol T; Le Guyader G; Bilan F; Sorlin A; Vitobello A; Philippe C; van de Laar IMBH; van Slegtenhorst MA; Campeau PM; Au PYB; Nakashima M; Saitsu H; Yamamoto T; Nomura Y; Louie RJ; Lyons MJ; Dobson A; Plomp AS; Motazacker MM; Kaiser FJ; Timberlake AT; Fuchs SA; Depienne C; Mignot C
Hum Genet; 2021 Jul; 140(7):1109-1120. PubMed ID: 33944996
[TBL] [Abstract][Full Text] [Related]
4. Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Fatima A; Hoeber J; Schuster J; Koshimizu E; Maya-Gonzalez C; Keren B; Mignot C; Akram T; Ali Z; Miyatake S; Tanigawa J; Koike T; Kato M; Murakami Y; Abdullah U; Ali MA; Fadoul R; Laan L; Castillejo-López C; Liik M; Jin Z; Birnir B; Matsumoto N; Baig SM; Klar J; Dahl N
Am J Hum Genet; 2021 Apr; 108(4):739-748. PubMed ID: 33711248
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
Blanchet P; Bebin M; Bruet S; Cooper GM; Thompson ML; Duban-Bedu B; Gerard B; Piton A; Suckno S; Deshpande C; Clowes V; Vogt J; Turnpenny P; Williamson MP; Alembik Y; ; ; Glasgow E; McNeill A
PLoS Genet; 2017 Aug; 13(8):e1006957. PubMed ID: 28859103
[TBL] [Abstract][Full Text] [Related]
7. A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review.
Carvalho LML; D'Angelo CS; Mustacchi Z; da Silva IT; Krepischi ACV; Koiffmann CP; Rosenberg C
Obes Res Clin Pract; 2021; 15(2):124-132. PubMed ID: 33622623
[TBL] [Abstract][Full Text] [Related]
8. MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.
Stevens SJ; van Ravenswaaij-Arts CM; Janssen JW; Klein Wassink-Ruiter JS; van Essen AJ; Dijkhuizen T; van Rheenen J; Heuts-Vijgen R; Stegmann AP; Smeets EE; Engelen JJ
Am J Med Genet A; 2011 Nov; 155A(11):2739-45. PubMed ID: 21990140
[TBL] [Abstract][Full Text] [Related]
9. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH; Pais LS; Faundes V; Wood JC; Sveden A; Luria V; Abou Jamra R; Accogli A; Amburgey K; Anderlid BM; Azzarello-Burri S; Basinger AA; Bianchini C; Bird LM; Buchert R; Carre W; Ceulemans S; Charles P; Cox H; Culliton L; Currò A; ; Demurger F; Dowling JJ; Duban-Bedu B; Dubourg C; Eiset SE; Escobar LF; Ferrarini A; Haack TB; Hashim M; Heide S; Helbig KL; Helbig I; Heredia R; Héron D; Isidor B; Jonasson AR; Joset P; Keren B; Kok F; Kroes HY; Lavillaureix A; Lu X; Maas SM; Maegawa GHB; Marcelis CLM; Mark PR; Masruha MR; McLaughlin HM; McWalter K; Melchinger EU; Mercimek-Andrews S; Nava C; Pendziwiat M; Person R; Ramelli GP; Ramos LLP; Rauch A; Reavey C; Renieri A; Rieß A; Sanchez-Valle A; Sattar S; Saunders C; Schwarz N; Smol T; Srour M; Steindl K; Syrbe S; Taylor JC; Telegrafi A; Thiffault I; Trauner DA; van der Linden H; van Koningsbruggen S; Villard L; Vogel I; Vogt J; Weber YG; Wentzensen IM; Widjaja E; Zak J; Baxter S; Banka S; Rodan LH
Am J Hum Genet; 2019 Jun; 104(6):1210-1222. PubMed ID: 31079897
[TBL] [Abstract][Full Text] [Related]
10. Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
De Rocker N; Vergult S; Koolen D; Jacobs E; Hoischen A; Zeesman S; Bang B; Béna F; Bockaert N; Bongers EM; de Ravel T; Devriendt K; Giglio S; Faivre L; Joss S; Maas S; Marle N; Novara F; Nowaczyk MJ; Peeters H; Polstra A; Roelens F; Rosenberg C; Thevenon J; Tümer Z; Vanhauwaert S; Varvagiannis K; Willaert A; Willemsen M; Willems M; Zuffardi O; Coucke P; Speleman F; Eichler EE; Kleefstra T; Menten B
Genet Med; 2015 Jun; 17(6):460-6. PubMed ID: 25232846
[TBL] [Abstract][Full Text] [Related]
11. A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability.
Loid P; Mäkitie R; Costantini A; Viljakainen H; Pekkinen M; Mäkitie O
Am J Med Genet A; 2018 Sep; 176(9):1972-1975. PubMed ID: 30055078
[TBL] [Abstract][Full Text] [Related]
12. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Schirwani S; Albaba S; Carere DA; Guillen Sacoto MJ; Milan Zamora F; Si Y; Rabin R; Pappas J; Renaud DL; Hauser N; Reid E; Blanchet P; Foulds N; Dixit A; Fisher R; Armstrong R; Isidor B; Cogne B; Schrier Vergano S; Demirdas S; Dykzeul N; Cohen JS; Grand K; Morel D; Slavotinek A; Albassam HF; Naik S; Dean J; Ragge N; Costa C; Tedesco MG; Harrison RE; Bouman A; Palen E; Challman TD; Willemsen MH; Vogt J; Cunniff C; Bergstrom K; Walia JS; Bruel AL; Kini U; Alkuraya FS; Slegesky V; Meeks N; Girotto P; Johnson D; ; Newbury-Ecob R; Ockeloen CW; Prontera P; Lynch SA; Li D; Graham JM; Pierson TM; Balasubramanian M
Am J Med Genet A; 2021 Nov; 185(11):3446-3458. PubMed ID: 34436830
[TBL] [Abstract][Full Text] [Related]
13. De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Tessarech M; Friocourt G; Marguet F; Lecointre M; Le Mao M; Díaz RM; Mignot C; Keren B; Héron B; De Bie C; Van Gassen K; Loisel D; Delorme B; Syrbe S; Klabunde-Cherwon A; Jamra RA; Wegler M; Callewaert B; Dheedene A; Zidane-Marinnes M; Guichet A; Bris C; Van Bogaert P; Biquard F; Lenaers G; Marcorelles P; Ferec C; Gonzalez B; Procaccio V; Vitobello A; Bonneau D; Laquerriere A; Khiati S; Colin E
Genet Med; 2024 May; 26(5):101087. PubMed ID: 38288683
[TBL] [Abstract][Full Text] [Related]
14. Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous
Yip S; Calli K; Qiao Y; Trost B; Scherer SW; Lewis MES
Genes (Basel); 2023 Nov; 14(12):. PubMed ID: 38136944
[TBL] [Abstract][Full Text] [Related]
15. Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
Garber A; Weingarten LS; Abreu NJ; Elloumi HZ; Haack T; Hildebrant C; Martínez-Gil N; Mathews J; Müller AJ; Valenzuela Palafoll I; Steigerwald C; Chung WK
Am J Med Genet A; 2024 Jul; 194(7):e63578. PubMed ID: 38425142
[TBL] [Abstract][Full Text] [Related]
16. Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Glinton KE; Hurst ACE; Bowling KM; Cristian I; Haynes D; Adstamongkonkul D; Schnappauf O; Beck DB; Brewer C; Parikh AS; Shinde DN; Donaldson A; Brautbar A; Koene S; van Haeringen A; Piton A; Capri Y; Furlan M; Gardella E; Møller RS; van de Beek I; Zuurbier L; Lakeman P; Bayat A; Martinez J; Signer R; Torring PM; Engelund MB; Gripp KW; Amlie-Wolf L; Henderson LB; Midro AT; Tarasów E; Stasiewicz-Jarocka B; Moskal-Jasinska D; Vos P; Boschann F; Stoltenburg C; Puk O; Mero IL; Lossius K; Mignot C; Keren B; Acosta Guio JC; Briceño I; Gomez A; Yang Y; Stankiewicz P
Am J Med Genet A; 2021 May; 185(5):1366-1378. PubMed ID: 33522091
[TBL] [Abstract][Full Text] [Related]
17. Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
Wiltrout K; Brimble E; Poduri A
Epilepsia; 2024 May; 65(5):1428-1438. PubMed ID: 38470175
[TBL] [Abstract][Full Text] [Related]
18. PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
Smith L; Singhal N; El Achkar CM; Truglio G; Rosen Sheidley B; Sullivan J; Poduri A
Epilepsia; 2018 Mar; 59(3):679-689. PubMed ID: 29377098
[TBL] [Abstract][Full Text] [Related]
19. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
Kanani F; Titheradge H; Cooper N; Elmslie F; Lees MM; Juusola J; Pisani L; McKenna C; Mignot C; Valence S; Keren B; Lachlan K; ; Balasubramanian M
Am J Med Genet A; 2020 Apr; 182(4):713-720. PubMed ID: 31926053
[TBL] [Abstract][Full Text] [Related]
20. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM; Chong JX; Piton A; Popp B; Foss K; Guo H; Harripaul R; Xia K; Scheck J; Aldinger KA; Sajan SA; Tang S; Bonneau D; Beck A; White J; Mahida S; Harris J; Smith-Hicks C; Hoyer J; Zweier C; Reis A; Thiel CT; Jamra RA; Zeid N; Yang A; Farach LS; Walsh L; Payne K; Rohena L; Velinov M; Ziegler A; Schaefer E; Gatinois V; Geneviève D; Simon MEH; Kohler J; Rotenberg J; Wheeler P; Larson A; Ernst ME; Akman CI; Westman R; Blanchet P; Schillaci LA; Vincent-Delorme C; Gripp KW; Mattioli F; Guyader GL; Gerard B; Mathieu-Dramard M; Morin G; Sasanfar R; Ayub M; Vasli N; Yang S; Person R; Monaghan KG; Nickerson DA; van Binsbergen E; Enns GM; Dries AM; Rowe LJ; Tsai ACH; Svihovec S; Friedman J; Agha Z; Qamar R; Rodan LH; Martinez-Agosto J; Ockeloen CW; Vincent M; Sunderland WJ; Bernstein JA; ; Eichler EE; Vincent JB; ; Bamshad MJ
Genet Med; 2020 Mar; 22(3):538-546. PubMed ID: 31723249
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
