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。17p13.1 Microdeletion: Genetic and Clinical Findings in a New Patient With Epilepsy and Comparison With Literature
Lucio Giordano et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
17p13.1 Microduplication in a Boy With Silver-Russell Syndrome Features and Intellectual disability
Charles Coutton et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability
Susan Zeesman et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism
Elga Fabia Belligni et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2012)
PSD-95 is post-transcriptionally repressed during early neural development by PTBP1 and PTBP2
Sika Zheng et al.
NATURE NEUROSCIENCE (2012)
A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13 1 Microdeletion Syndromes
Adam Shlien et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
17p13.1 Microdeletion Involving the TP53 Gene in a Boy Presenting With Mental Retardation but No Tumor
Caroline Schluth-Bolard et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish
Yuta Komoike et al.
JOURNAL OF HUMAN GENETICS (2010)
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Marwan Shinawi et al.
JOURNAL OF MEDICAL GENETICS (2010)
Genetic and Functional Analysis of the DLG4 Gene Encoding the Post-Synaptic Density Protein 95 in Schizophrenia
Min-Chih Cheng et al.
PLOS ONE (2010)
Elements of Morphology: Standard Terminology for the Head and Face
Judith E. Allanson et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1
A. C. V. Krepischi-Santos et al.
CYTOGENETIC AND GENOME RESEARCH (2009)
Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing
T. Schwarzbraun et al.
JOURNAL OF MEDICAL GENETICS (2009)
Clinical Utility of Array Comparative Genomic Hybridization: Uncovering Tumor Susceptibility in Individuals with Developmental Delay
Margaret P. Adam et al.
JOURNAL OF PEDIATRICS (2009)
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nicola Brunetti-Pierri et al.
NATURE GENETICS (2008)
Molecular cloning and characterization of dullard:: a novel gene required for neural development
R Satow et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2002)