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Journal Abstract Search

120 related items for PubMed ID: 33374027

  • 21. Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.
    van der Werf IM, Van Dijck A, Reyniers E, Helsmoortel C, Kumar AA, Kalscheuer VM, de Brouwer AP, Kleefstra T, van Bokhoven H, Mortier G, Janssens S, Vandeweyer G, Kooy RF.
    Gene; 2017 Mar 20; 605():92-98. PubMed ID: 27993705
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  • 22. A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
    Yasin H, Gibson WT, Langlois S, Stowe RM, Tsang ES, Lee L, Poon J, Tran G, Tyson C, Wong CK, Marra MA, Friedman JM, Zahir FR.
    J Hum Genet; 2019 Apr 20; 64(4):271-280. PubMed ID: 30670789
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  • 23. Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
    Shoubridge C, Jackson M, Grinton B, Berkovic SF, Scheffer IE, Huskins S, Thomas A, Ware T.
    Am J Med Genet A; 2019 Aug 20; 179(8):1483-1490. PubMed ID: 31145546
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  • 27. Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene.
    González-Ortega G, Llamas-Velasco S, Arteche-López A, Quesada-Espinosa JF, Puertas-Martín V, Gómez-Grande A, López-Álvarez J, Saiz Díaz RA, Lezana-Rosales JM, Villarejo-Galende A, González de la Aleja J.
    J Alzheimers Dis; 2021 Aug 20; 84(1):73-78. PubMed ID: 34459404
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  • 31. 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, Deciphering Developmental Disorder Study, Klee EW, Lefebvre V, Clark KJ, Depienne C.
    Genet Med; 2020 Mar 20; 22(3):524-537. PubMed ID: 31578471
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  • 32. Identification of an individual with a SYGNAP1 pathogenic mutation in India.
    Verma V, Mandora A, Botre A, Clement JP.
    Mol Biol Rep; 2020 Nov 20; 47(11):9225-9234. PubMed ID: 33090308
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  • 34. Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.
    Seabra CM, Aneichyk T, Erdin S, Tai DJC, De Esch CEF, Razaz P, An Y, Manavalan P, Ragavendran A, Stortchevoi A, Abad C, Young JI, Maciel P, Talkowski ME, Gusella JF.
    Mol Autism; 2020 Jun 05; 11(1):45. PubMed ID: 32503625
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  • 35. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
    Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP.
    Genet Med; 2017 Jan 05; 19(1):45-52. PubMed ID: 27195816
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  • 38. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
    Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME.
    Mol Psychiatry; 2014 Mar 05; 19(3):368-79. PubMed ID: 23587880
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  • 39. [De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria].
    Castro-Gago M, Gómez-Lado C, Barros-Angueira F, Trujillo-Ariza MV, Fuentes-Pita P, López-Vázquez AM, Eirís-Puñal J.
    Rev Neurol; 2019 Dec 16; 69(12):492-496. PubMed ID: 31820818
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  • 40. A novel de novo POGZ mutation in a patient with intellectual disability.
    Tan B, Zou Y, Zhang Y, Zhang R, Ou J, Shen Y, Zhao J, Luo X, Guo J, Zeng L, Hu Y, Zheng Y, Pan Q, Liang D, Wu L.
    J Hum Genet; 2016 Apr 16; 61(4):357-9. PubMed ID: 26763879
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