Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males
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Title
Mutations in STAG2
cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males
Authors
Keywords
-
Journal
Molecular Genetics & Genomic Medicine
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2018-11-17
DOI
10.1002/mgg3.501
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Related references
Note: Only part of the references are listed.- Familial STAG2 germline mutation defines a new human cohesinopathy
- (2017) Fernanda C. Soardi et al. npj Genomic Medicine
- Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy
- (2015) C. Leroy et al. CLINICAL GENETICS
- Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability
- (2015) Xie Yingjun et al. European Journal of Medical Genetics
- Clinical application of whole-exome sequencing across clinical indications
- (2015) Kyle Retterer et al. GENETICS IN MEDICINE
- 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
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- IncreasedSTAG2dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
- (2015) Raman Kumar et al. HUMAN MOLECULAR GENETICS
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
- (2014) Hane Lee et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Xq25 duplications encompassingGRIA3andSTAG2genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance
- (2013) Anne Philippe et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies
- (2013) Alexander R. Ball et al. Biochimica et Biophysica Acta-Gene Regulatory Mechanisms
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- 6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies
- (2013) Daniela Di Benedetto et al. Molecular Cytogenetics
- Cohesinopathies of a Feather Flock Together
- (2013) Robert V. Skibbens et al. PLoS Genetics
- Cohesin biology and the cohesinopathies: Abstracts from the Second Biennial Conference, Pontignano, Italy, 2009
- (2010) Antonio Musio et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- AberrantGRIA3transcripts with multi-exon duplications in a family with X-linked mental retardation
- (2009) C. Bonnet et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies
- (2009) Erica H. Gerkes et al. European Journal of Medical Genetics
- Cohesinopathy mutations disrupt the subnuclear organization of chromatin
- (2009) Scarlett Gard et al. JOURNAL OF CELL BIOLOGY
- Cohesinopathies: One ring, many obligations
- (2008) Adrian J. McNairn et al. MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
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