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Journal Abstract Search

120 related items for PubMed ID: 33374027

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  • 3. A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?
    Verhoeven W, Egger J, Kipp J, Verheul-Aan de Wiel J, Ockeloen C, Kleefstra T, Pfundt R.
    Mol Genet Genomic Med; 2019 Aug; 7(8):e849. PubMed ID: 31290275
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  • 5. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
    Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH.
    Am J Hum Genet; 2011 Oct 07; 89(4):551-63. PubMed ID: 21981781
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  • 6. Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.
    Walsh S, Gösswein SS, Rump A, von der Hagen M, Hackmann K, Schröck E, Di Donato N, Kahlert AK.
    Eur J Med Genet; 2020 Oct 07; 63(10):104019. PubMed ID: 32712214
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  • 7. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
    Dingemans AJM, Truijen KMG, van de Ven S, Bernier R, Bongers EMHF, Bouman A, de Graaff-Herder L, Eichler EE, Gerkes EH, De Geus CM, van Hagen JM, Jansen PR, Kerkhof J, Kievit AJA, Kleefstra T, Maas SM, de Man SA, McConkey H, Patterson WG, Dobson AT, Prijoles EJ, Sadikovic B, Relator R, Stevenson RE, Stumpel CTRM, Heijligers M, Stuurman KE, Löhner K, Zeidler S, Lee JA, Lindy A, Zou F, Tedder ML, Vissers LELM, de Vries BBA.
    Transl Psychiatry; 2022 Oct 01; 12(1):421. PubMed ID: 36182950
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  • 9. MBD5-related intellectual disability in a Vietnamese child.
    Le TNU, Ha TMT.
    Am J Med Genet A; 2021 Apr 01; 185(4):1321-1323. PubMed ID: 33427406
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  • 10. Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
    Bonnet C, Ali Khan A, Bresso E, Vigouroux C, Béri M, Lejczak S, Deemer B, Andrieux J, Philippe C, Moncla A, Giurgea I, Devignes MD, Leheup B, Jonveaux P.
    Eur J Hum Genet; 2013 Dec 01; 21(12):1457-61. PubMed ID: 23422940
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  • 11. Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
    Rech ME, McCarthy JM, Chen CA, Edmond JC, Shah VS, Bosch DGM, Berry GT, Williams L, Madan-Khetarpal S, Niyazov D, Shaw-Smith C, Kovar EM, Lupo PJ, Schaaf CP.
    Am J Med Genet A; 2020 Jun 01; 182(6):1426-1437. PubMed ID: 32275123
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  • 12. [Identification of a novel mutation of MBD5 gene in a pedigree affected with autosomal dominant mental retardation type 1].
    Yi Z, Zhang Y, Yang C, Song Z, Xue J, Pan H, Zhu H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Mar 10; 38(3):260-263. PubMed ID: 33751537
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  • 15. A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.
    Merner N, Forgeot d'Arc B, Bell SC, Maussion G, Peng H, Gauthier J, Crapper L, Hamdan FF, Michaud JL, Mottron L, Rouleau GA, Ernst C.
    Am J Med Genet A; 2016 May 10; 170A(5):1225-35. PubMed ID: 26789910
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  • 16. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
    Latypova X, Vincent M, Mollé A, Adebambo OA, Fourgeux C, Khan TN, Caro A, Rosello M, Orellana C, Niyazov D, Lederer D, Deprez M, Capri Y, Kannu P, Tabet AC, Levy J, Aten E, den Hollander N, Splitt M, Walia J, Immken LL, Stankiewicz P, McWalter K, Suchy S, Louie RJ, Bell S, Stevenson RE, Rousseau J, Willem C, Retiere C, Yang XJ, Campeau PM, Martinez F, Rosenfeld JA, Le Caignec C, Küry S, Mercier S, Moradkhani K, Conrad S, Besnard T, Cogné B, Katsanis N, Bézieau S, Poschmann J, Davis EE, Isidor B.
    Am J Hum Genet; 2021 May 06; 108(5):929-941. PubMed ID: 33811806
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  • 18. Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.
    Lebrun N, Parent P, Gendras J, Billuart P, Poirier K, Bienvenu T.
    Clin Genet; 2017 Dec 06; 92(6):669-670. PubMed ID: 28960266
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  • 19. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
    Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ.
    Am J Hum Genet; 2018 May 03; 102(5):985-994. PubMed ID: 29656860
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