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。Phenotypic and Molecular Spectrum of Aicardi-Goutieres Syndrome: A Study of 24 Patients
Fuad Al Mutairi et al.
PEDIATRIC NEUROLOGY (2018)
Hearing loss in children with growth hormone deficiency
John S. Muus et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2017)
Chimerism for 20q11.2 microdeletion of GDF5 explains discordant phenotypes in monochorionic-diamniotic twins
Matthew M. Meredith et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Clinical and Molecular Characterization of the 20q11.2 Microdeletion Syndrome: Six New Patients
Guillaume Jedraszak et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
The Smallest De Novo Deletion of 20q11.21q11.23 in a Girl With Feeding Problems, Retinal Dysplasia, and Skeletal Abnormalities
Renata Posmyk et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
Cristina Gervasini et al.
BMC MEDICAL GENETICS (2013)
Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009
Claudia Santoro et al.
CLINICAL DYSMORPHOLOGY (2013)
Growth differentiation factor 5 is a key physiological regulator of dendrite growth during development
Catarina Osorio et al.
DEVELOPMENT (2013)
Confirmation of chromosomal microarray as a firsttier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Agatino Battaglia et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2013)
Mouse SAMHD1 Has Antiretroviral Activity and Suppresses a Spontaneous Cell-Intrinsic Antiviral Response
Rayk Behrendt et al.
CELL REPORTS (2013)
A De Novo Deletion of 20q11.2-q12 in a Boy Presenting With Abnormal Hands and Feet, Retinal Dysplasia, and Intractable Feeding Difficulty
Yoko Hiraki et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase
David C. Goldstone et al.
NATURE (2011)
Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke
Baozhong Xin et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response
Gillian I. Rice et al.
NATURE GENETICS (2009)
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese:: brachydactyly type C and proximal symphalangism
Wei Yang et al.
JOURNAL OF HUMAN GENETICS (2008)
Interstitial del(20)(q11.2q12) - Clinical and molecular cytogenetic characterization
M. Anwar Iqbal et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Detection of low-level mosaicism by array CGH in routine diagnostic specimens
Blake C. Balliff et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization
P. Callier et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Medical applications of array CGH and the transformation of clinical cytogenetics
L. G. Shaffer et al.
CYTOGENETIC AND GENOME RESEARCH (2006)
Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1→qter) and partial monosomy 20q (20q13.3→qter)
CP Chen et al.
PRENATAL DIAGNOSIS (2005)
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties
D Genevieve et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Constitutional deletion of chromosome 20q in two patients affected with Albright hereditary osteodystrophy
MA Aldred et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
The mutational spectrum of brachydactyly type C
DB Everman et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
分享论文
