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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

312 related items for PubMed ID: 28407444

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  • 4. Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1.
    Chen CP, Hsieh CH, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Yang CW, Lee CC, Wang W.
    Taiwan J Obstet Gynecol; 2017 Dec; 56(6):847-851. PubMed ID: 29241933
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  • 5. 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.
    Marseglia G, Scordo MR, Pescucci C, Nannetti G, Biagini E, Scandurra V, Gerundino F, Magi A, Benelli M, Torricelli F.
    Eur J Med Genet; 2012 Mar; 55(3):216-21. PubMed ID: 22333924
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  • 7. NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.
    Lévy J, Grotto S, Mignot C, Maruani A, Delahaye-Duriez A, Benzacken B, Keren B, Haye D, Xavier J, Heulin M, Charles E, Verloes A, Dupont C, Pipiras E, Tabet AC.
    Clin Genet; 2018 Aug; 94(2):264-268. PubMed ID: 29770430
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  • 8. 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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  • 10. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.
    Biamino E, Di Gregorio E, Belligni EF, Keller R, Riberi E, Gandione M, Calcia A, Mancini C, Giorgio E, Cavalieri S, Pappi P, Talarico F, Fea AM, De Rubeis S, Cirillo Silengo M, Ferrero GB, Brusco A.
    Am J Med Genet B Neuropsychiatr Genet; 2016 Mar 06; 171B(2):290-9. PubMed ID: 26620927
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  • 12. 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 06; 64(4):271-280. PubMed ID: 30670789
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  • 16. Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
    Brugger M, Brunet T, Wagner M, Orec LE, Schwaibold EMC, Boy N.
    Gene; 2021 Feb 05; 768():145260. PubMed ID: 33164824
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  • 17. Behavioral training rescues motor deficits in Cyfip1 haploinsufficiency mouse model of autism spectrum disorders.
    Bachmann SO, Sledziowska M, Cross E, Kalbassi S, Waldron S, Chen F, Ranson A, Baudouin SJ.
    Transl Psychiatry; 2019 Jan 21; 9(1):29. PubMed ID: 30664619
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  • 18. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.
    Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson EC, Holden JJ, Lewis ME, Rajcan-Separovic E.
    Clin Genet; 2005 Apr 21; 67(4):341-51. PubMed ID: 15733271
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  • 20. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
    Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, Willemsen MH, Fenckova M, Stumpel CTRM, Bok LA, Sifuentes Saenz M, Byerly KA, Baughn LB, Stegmann APA, Pfundt R, Zhou H, van Bokhoven H, Schenck A, Kramer JM.
    PLoS Genet; 2017 Oct 21; 13(10):e1006864. PubMed ID: 29069077
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