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    Recurrent reciprocal 1q21.1 deletions and duplications are novel genomic disorders associated with micro- or macrocephaly and a spectrum of developmental and behavioral abnormalities

    المؤلفون: BRUNETTI PIERRI, NICOLA, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham H, Lee B, Shinawi M, Shen J, Kang S. HL, Pursley A, Lotze T, Kennedy G, Lansky Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong C. T, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung S. W, Patel A.

    المساهمون: BRUNETTI PIERRI, Nicola, Berg, J, Scaglia, F, Belmont, J, Bacino, Ca, Sahoo, T, Lalani, Sr, Graham, H, Lee, B, Shinawi, M, Shen, J, Kang S., Hl, Pursley, A, Lotze, T, Kennedy, G, Lansky Shafer, S, Weaver, C, Roeder, Er, Grebe, Ta, Arnold, Gl, Hutchison, T, Reimschisel, T, Amato, S, Geragthy, Mt, Innis, Jw, Obersztyn, E, Nowakowska, B, Rosengren, S, Bader, Pi, Grange, Dk, Naqvi, S, Garnica, Ad, Bernes, Sm, Fong, C. T., Summers, A, Walters, Wd, Lupski, Jr, Stankiewicz, P, Cheung, S. W., Patel, A.

    وصف الملف: STAMPA

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3730::317718ef8afc345231a669dc41259ca0
    http://hdl.handle.net/11588/363126

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    دورية أكاديمية
    Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

    المؤلفون: Brunetti-Pierri N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A

    المصدر: Nature genetics [Nat Genet] 2008 Dec; Vol. 40 (12), pp. 1466-71.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

    مواضيع طبية MeSH: Chromosomes, Human, Pair 1/*genetics , Craniofacial Abnormalities/*genetics , Mental Disorders/*genetics , Microcephaly/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Gene Deletion ; Gene Duplication ; Humans ; Male ; Schizophrenia/genetics ; Young Adult

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