Related references
Note: Only part of the references are listed.X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H. Hu et al.
MOLECULAR PSYCHIATRY (2016)
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination
Tojo Nakayama et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly
Baroj Abdulkarim et al.
DIABETES (2015)
Next-generation sequencing in X-linked intellectual disability
Andreas Tzschach et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability
Kristin D. Kernohan et al.
HUMAN MOLECULAR GENETICS (2015)
Phenotypic and molecular insights into CASK-related disorders in males
Ute Moog et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing
Amelie Piton et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Function and Regulation of AUTS2, a Gene Implicated in Autism and Human Evolution
Nir Oksenberg et al.
PLOS GENETICS (2013)
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery
Herbert A. Lubs et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
elF2γ Mutation that Disrupts elF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation
Guntram Borck et al.
MOLECULAR CELL (2012)
Phosphorylation of Human Eukaryotic Initiation Factor 2γ: Novel Site Identification and Targeted PKC Involvement
Armann Andaya et al.
JOURNAL OF PROTEOME RESEARCH (2011)
Las1L Is a Nucleolar Protein Required for Cell Proliferation and Ribosome Biogenesis
Christopher D. Castle et al.
MOLECULAR AND CELLULAR BIOLOGY (2010)
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Patrick S. Tarpey et al.
NATURE GENETICS (2009)
Structure of an archaeal heterotrimeric initiation factor 2 reveals a nucleotide state between the GTP and the GDP states
Laure Yatime et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism
S. M. Klauck et al.
MOLECULAR PSYCHIATRY (2006)
X-linked mental retardation
HH Ropers et al.
NATURE REVIEWS GENETICS (2005)
The PERK eukaryotic initiation factor 2α kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas
PC Zhang et al.
MOLECULAR AND CELLULAR BIOLOGY (2002)
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
MS van der Knaap et al.
ANNALS OF NEUROLOGY (2002)