Haploinsufficiency ofSOX5at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
出版年份 2012 全文链接
标题
Haploinsufficiency ofSOX5at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
作者
关键词
-
出版物
HUMAN MUTATION
Volume 33, Issue 4, Pages 728-740
出版商
Wiley
发表日期
2012-01-31
DOI
10.1002/humu.22037
参考文献
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。- Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research
- (2011) Michael E. Talkowski et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder
- (2011) Michael E. Talkowski et al. AMERICAN JOURNAL OF HUMAN GENETICS
- SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer
- (2011) M. Aza-Carmona et al. HUMAN MOLECULAR GENETICS
- A copy number variation morbidity map of developmental delay
- (2011) Gregory M Cooper et al. NATURE GENETICS
- Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E
- (2010) Eva Klopocki et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome
- (2010) Angela L Duker et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders
- (2010) Jill A Rosenfeld et al. GENETICS IN MEDICINE
- Phenotypic variability and genetic susceptibility to genomic disorders
- (2010) S. Girirajan et al. HUMAN MOLECULAR GENETICS
- Transcriptional Regulation of an Axonemal Central Apparatus Gene, Sperm-associated Antigen 6, by a SRY-related High Mobility Group Transcription Factor, S-SOX5
- (2010) Elizabeth Anne Kiselak et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Characterising and Predicting Haploinsufficiency in the Human Genome
- (2010) Ni Huang et al. PLoS Genetics
- A girl with distinctive features of borderline high blood pressure, short stature, characteristic brachydactyly, and 11.47 Mb deletion in 12p11.21-12p12.2 by oligonucleotide array CGH
- (2009) Hong-Yong Lu et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
- (2009) BC Ballif et al. CLINICAL GENETICS
- Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
- (2009) Jill A Rosenfeld et al. GENETICS IN MEDICINE
- The SoxD transcription factors – Sox5, Sox6, and Sox13 – are key cell fate modulators
- (2009) Véronique Lefebvre INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome
- (2009) Jill A. Rosenfeld et al. PLoS One
- Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report
- (2009) Ryan N Traylor et al. Molecular Cytogenetics
- Generation of mice harboring aSox5conditional null allele
- (2008) Peter Dy et al. GENESIS
- Emerging themes and new challenges in defining the role of structural variation in human disease
- (2008) Andrew J. Sharp HUMAN MUTATION
- Spermatogenesis-related ring finger gene ZNF230 promoter: identification and functional analysis
- (2008) Wenming Xu et al. MOLECULAR BIOLOGY REPORTS
- SOX5 Controls the Sequential Generation of Distinct Corticofugal Neuron Subtypes
- (2008) Tina Lai et al. NEURON
- SOX5 postmitotically regulates migration, postmigratory differentiation, and projections of subplate and deep-layer neocortical neurons
- (2008) K. Y. Kwan et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- L1 recombination-associated deletions generate human genomic variation
- (2008) K. Han et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Inversion Region for Hypertension and Brachydactyly on Chromosome 12p Features Multiple Splicing and Noncoding RNA
- (2007) Sylvia Bähring et al. HYPERTENSION
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now