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Journal Abstract Search

249 related items for PubMed ID: 27106595

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  • 2. De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.
    Hiraide T, Nakashima M, Yamoto K, Fukuda T, Kato M, Ikeda H, Sugie Y, Aoto K, Kaname T, Nakabayashi K, Ogata T, Matsumoto N, Saitsu H.
    Hum Genet; 2018 Jan; 137(1):95-104. PubMed ID: 29322246
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  • 3. A genome-wide DNA methylation signature for SETD1B-related syndrome.
    Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM.
    Clin Epigenetics; 2019 Nov 04; 11(1):156. PubMed ID: 31685013
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  • 5. Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia.
    Yokotsuka-Ishida S, Nakamura M, Tomiyasu Y, Nagai M, Kato Y, Tomiyasu A, Umehara H, Hayashi T, Sasaki N, Ueno SI, Sano A.
    J Hum Genet; 2021 Jun 04; 66(6):597-606. PubMed ID: 33402700
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  • 8. A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.
    Labonne JD, Graves TD, Shen Y, Jones JR, Kong IK, Layman LC, Kim HG.
    BMC Neurol; 2016 Aug 09; 16():132. PubMed ID: 27506666
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  • 11. Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33-p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review.
    Han JY, Park J.
    Genes (Basel); 2021 Jun 29; 12(7):. PubMed ID: 34210021
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  • 12. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
    Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL.
    J Med Genet; 2009 Apr 29; 46(4):242-8. PubMed ID: 18805830
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  • 13. A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.
    Chen CP, Lin SP, Chern SR, Wu PS, Su JW, Lee CC, Wang W.
    Taiwan J Obstet Gynecol; 2014 Mar 29; 53(1):74-8. PubMed ID: 24767651
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  • 16. 3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients.
    Città S, Buono S, Greco D, Barone C, Alfei E, Bulgheroni S, Usilla A, Pantaleoni C, Romano C.
    Am J Med Genet A; 2013 Dec 29; 161A(12):3018-22. PubMed ID: 24214349
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  • 19. Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder.
    Kogan JH, Gross AK, Featherstone RE, Shin R, Chen Q, Heusner CL, Adachi M, Lin A, Walton NM, Miyoshi S, Miyake S, Tajinda K, Ito H, Siegel SJ, Matsumoto M.
    J Neurosci; 2015 Dec 09; 35(49):16282-94. PubMed ID: 26658876
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  • 20. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
    Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J.
    Eur J Med Genet; 2015 Mar 09; 58(3):140-7. PubMed ID: 25596525
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