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。SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum
Katharine Edgerley et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)
Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review
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Variant interpretation using population databases: Lessons from gnomAD
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HUMAN MUTATION (2022)
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SOX5 promotes cell growth and migration through modulating DNMT1/p21 pathway in bladder cancer
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ACTA BIOCHIMICA ET BIOPHYSICA SINICA (2022)
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5)
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
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AMERICAN JOURNAL OF HUMAN GENETICS (2021)
CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores
Philipp Rentzsch et al.
GENOME MEDICINE (2021)
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
Ash Zawerton et al.
GENETICS IN MEDICINE (2020)
Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation
Daisuke Fukushi et al.
GENE (2018)
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M. Ioannidis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Coiled-coils: The long and short of it
Linda Truebestein et al.
BIOESSAYS (2016)
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders
Addie Nesbitt et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features
Ines Quintela et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Sox5 Controls Dorsal Progenitor and Interneuron Specification in the Spinal Cord
Alejandra C. Quiroga et al.
DEVELOPMENTAL NEUROBIOLOGY (2015)
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability
Ina Schanze et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2013)
Deletion 12p12 Involving SOX5 in Two Children With Developmental Delay and Dysmorphic Features
Ryan W. Y. Lee et al.
PEDIATRIC NEUROLOGY (2013)
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
Allen N. Lamb et al.
HUMAN MUTATION (2012)
SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer
Miriam Aza-Carmona et al.
HUMAN MOLECULAR GENETICS (2011)
SOX5 controls cell cycle progression in neural progenitors by interfering with the WNT-β-catenin pathway
Patricia L. Martinez-Morales et al.
EMBO REPORTS (2010)
SOX5 controls the sequential generation of distinct corticofugal neuron subtypes
Tina Lai et al.
NEURON (2008)
SOX5 postmitotically regulates migration, postmigratory differentiation, and projections of subplate and deep-layer neocortical neurons
Kenneth Y. Kwan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9]
VR Harley et al.
ENDOCRINE REVIEWS (2003)
Identification and characterization of the human long form of Sox5 (L-SOX5) gene
T Ikeda et al.
GENE (2002)
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