154 related articles for article (PubMed ID: 30055078)
1. 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]
2. 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]
3. 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]
4. MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature.
Al Tuwaijri A; Alfadhel M
J Pediatr Endocrinol Metab; 2019 Apr; 32(4):409-413. PubMed ID: 30796847
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Doco-Fenzy M; Leroy C; Schneider A; Petit F; Delrue MA; Andrieux J; Perrin-Sabourin L; Landais E; Aboura A; Puechberty J; Girard M; Tournaire M; Sanchez E; Rooryck C; Ameil A; Goossens M; Jonveaux P; Lefort G; Taine L; Cailley D; Gaillard D; Leheup B; Sarda P; Geneviève D
Eur J Hum Genet; 2014 Apr; 22(4):471-9. PubMed ID: 24129437
[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. 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]
10. Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.
Parente DJ; Garriga C; Baskin B; Douglas G; Cho MT; Araujo GC; Shinawi M
Am J Med Genet A; 2017 Jan; 173(1):213-216. PubMed ID: 27865048
[TBL] [Abstract][Full Text] [Related]
11. MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism.
Mansfield P; Constantino JN; Baldridge D
Am J Med Genet B Neuropsychiatr Genet; 2020 Jun; 183(4):227-233. PubMed ID: 32267091
[TBL] [Abstract][Full Text] [Related]
12. Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.
Zhu W; Li J; Chen S; Zhang J; Vetrini F; Braxton A; Eng CM; Yang Y; Xia F; Keller KL; Okinaka-Hu L; Lee C; Holder JL; Bi W
Am J Med Genet A; 2018 Apr; 176(4):973-979. PubMed ID: 29423971
[TBL] [Abstract][Full Text] [Related]
13. The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability.
Gimeno-Ferrer F; Albuquerque D; Guzmán Luján C; Marcaida Benito G; Torreira Banzas C; Repáraz-Andrade A; Ballesteros Cogollos V; Aleu Pérez-Gramunt M; Galán Gómez E; Quintela I; Rodríguez-López R
J Hum Genet; 2019 Mar; 64(3):221-231. PubMed ID: 30518945
[TBL] [Abstract][Full Text] [Related]
14. BRAT1 mutations present with a spectrum of clinical severity.
Srivastava S; Olson HE; Cohen JS; Gubbels CS; Lincoln S; Davis BT; Shahmirzadi L; Gupta S; Picker J; Yu TW; Miller DT; Soul JS; Poretti A; Naidu S
Am J Med Genet A; 2016 Sep; 170(9):2265-73. PubMed ID: 27282546
[TBL] [Abstract][Full Text] [Related]
15. Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
Kasher PR; Schertz KE; Thomas M; Jackson A; Annunziata S; Ballesta-Martinez MJ; Campeau PM; Clayton PE; Eaton JL; Granata T; Guillén-Navarro E; Hernando C; Laverriere CE; Liedén A; Villa-Marcos O; McEntagart M; Nordgren A; Pantaleoni C; Pebrel-Richard C; Sarret C; Sciacca FL; Wright R; Kerr B; Glasgow E; Banka S
Am J Hum Genet; 2016 Feb; 98(2):363-72. PubMed ID: 26833329
[TBL] [Abstract][Full Text] [Related]
16. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
Smogavec M; Cleall A; Hoyer J; Lederer D; Nassogne MC; Palmer EE; Deprez M; Benoit V; Maystadt I; Noakes C; Leal A; Shaw M; Gecz J; Raymond L; Reis A; Shears D; Brockmann K; Zweier C
J Med Genet; 2016 Dec; 53(12):820-827. PubMed ID: 27439707
[TBL] [Abstract][Full Text] [Related]
17. A MYT1L syndrome mouse model recapitulates patient phenotypes and reveals altered brain development due to disrupted neuronal maturation.
Chen J; Lambo ME; Ge X; Dearborn JT; Liu Y; McCullough KB; Swift RG; Tabachnick DR; Tian L; Noguchi K; Garbow JR; Constantino JN; Gabel HW; Hengen KB; Maloney SE; Dougherty JD
Neuron; 2021 Dec; 109(23):3775-3792.e14. PubMed ID: 34614421
[TBL] [Abstract][Full Text] [Related]
18. Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder.
Mayo S; Roselló M; Monfort S; Oltra S; Orellana C; Martínez F
Genet Med; 2015 Aug; 17(8):683-4. PubMed ID: 26240977
[No Abstract] [Full Text] [Related]
19. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Dennert N; Engels H; Cremer K; Becker J; Wohlleber E; Albrecht B; Ehret JK; Lüdecke HJ; Suri M; Carignani G; Renieri A; Kukuk GM; Wieland T; Andrieux J; Strom TM; Wieczorek D; Dieux-Coëslier A; Zink AM
Am J Med Genet A; 2017 Feb; 173(2):435-443. PubMed ID: 27862890
[TBL] [Abstract][Full Text] [Related]
20. New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.
Vuillaume ML; Naudion S; Banneau G; Diene G; Cartault A; Cailley D; Bouron J; Toutain J; Bourrouillou G; Vigouroux A; Bouneau L; Nacka F; Kieffer I; Arveiler B; Knoll-Gellida A; Babin PJ; Bieth E; Jouret B; Julia S; Sarda P; Geneviève D; Faivre L; Lacombe D; Barat P; Tauber M; Delrue MA; Rooryck C
Am J Med Genet A; 2014 Aug; 164A(8):1965-75. PubMed ID: 24782328
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
