175 related articles for article (PubMed ID: 33622623)
1. 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]
2. 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]
3. 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]
4. A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.
Carvalho LML; Jorge AAL; Bertola DR; Krepischi ACV; Rosenberg C
Curr Obes Rep; 2024 Jun; 13(2):313-337. PubMed ID: 38277088
[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. 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]
8. 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]
9. MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy.
Boeri S; Scala M; Madia F; Perucco F; Vozzi D; Capra V; Zara F; Nobili L; Mancardi MM
Epileptic Disord; 2023 Dec; 25(6):874-879. PubMed ID: 37518898
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.
Hertecant J; Komara M; Nagi A; Al-Zaabi O; Fathallah W; Cui H; Yang Y; Eng CM; Al Sorkhy M; Ghattas MA; Al-Gazali L; Ali BR
Eur J Med Genet; 2017 Apr; 60(4):212-216. PubMed ID: 28126652
[TBL] [Abstract][Full Text] [Related]
16. Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
Prokudin I; Li D; He S; Guo Y; Goodwin L; Wilson M; Rose L; Tian L; Chen Y; Liang J; Keating B; Xu X; Jamieson RV; Hakonarson H
Clin Exp Ophthalmol; 2015 Mar; 43(2):132-8. PubMed ID: 25060287
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. SCAF4-related syndromic intellectual disability.
Carvalho LML; Pinto CF; de Oliveira Scliar M; Otto PA; Krepischi ACV; Rosenberg C
Am J Med Genet A; 2023 Feb; 191(2):570-574. PubMed ID: 36333968
[TBL] [Abstract][Full Text] [Related]
19. Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
Cleaver R; Berg J; Craft E; Foster A; Gibbons RJ; Hobson E; Lachlan K; Naik S; Sampson JR; Sharif S; Smithson S; ; Parker MJ; Tatton-Brown K
Am J Med Genet A; 2019 Mar; 179(3):344-349. PubMed ID: 30637921
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
