相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations
N. Di Donato et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome
Ariadna Laguna et al.
HUMAN MOLECULAR GENETICS (2013)
Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy
Angelo Valetto et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2012)
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
Jean-Benoit Courcet et al.
JOURNAL OF MEDICAL GENETICS (2012)
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Jean-Baptiste Riviere et al.
NATURE GENETICS (2012)
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Brian J. O'Roak et al.
SCIENCE (2012)
Refinement of Causative Genes in Monosomy 1p36 Through Clinical and Molecular Cytogenetic Characterization of Small Interstitial Deletions
Jill A. Rosenfeld et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
Rikke S. Moller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
The human γ-aminobutyric acid A receptor delta (GABRD) gene:: molecular characterisation and tissue-specific expression
C Windpassinger et al.
GENE (2002)
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
M Tartaglia et al.
NATURE GENETICS (2001)
Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping
W Emberger et al.
CYTOGENETICS AND CELL GENETICS (2000)
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