标题
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
作者
关键词
-
出版物
HUMAN MUTATION
Volume 34, Issue 11, Pages 1519-1528
出版商
Wiley
发表日期
2013-08-08
DOI
10.1002/humu.22394
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。- RSK2mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family
- (2013) I Maystadt et al. CLINICAL GENETICS
- Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas
- (2013) Miriam J Smith et al. NATURE GENETICS
- From neural development to cognition: unexpected roles for chromatin
- (2013) Jehnna L. Ronan et al. NATURE REVIEWS GENETICS
- Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
- (2012) Juliane Hoyer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases
- (2012) Samantha A. Schrier et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- SWI/SNF complex in disorder
- (2012) Gijs W.E. Santen et al. Epigenetics
- Next-generation sequencing demands next-generation phenotyping
- (2012) Raoul C.M. Hennekam et al. HUMAN MUTATION
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- (2012) Anita Rauch et al. LANCET
- Loss of ARID1A/BAF250a-expression in endometriosis: a biomarker for risk of carcinogenic transformation?
- (2012) Eleftherios P Samartzis et al. MODERN PATHOLOGY
- Novel mutations target distinct subgroups of medulloblastoma
- (2012) Giles Robinson et al. NATURE
- Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
- (2012) Gijs W E Santen et al. NATURE GENETICS
- Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
- (2012) Jeroen K J Van Houdt et al. NATURE GENETICS
- Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
- (2012) Yoshinori Tsurusaki et al. NATURE GENETICS
- Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes
- (2012) Zhi Jiang Zang et al. NATURE GENETICS
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- ARID1A, a Factor That Promotes Formation of SWI/SNF-Mediated Chromatin Remodeling, Is a Tumor Suppressor in Gynecologic Cancers
- (2011) B. Guan et al. CANCER RESEARCH
- ATP-dependent chromatin remodeling: genetics, genomics and mechanisms
- (2011) Diana C Hargreaves et al. CELL RESEARCH
- Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
- (2011) C Halgren et al. CLINICAL GENETICS
- LOVD v.2.0: the next generation in gene variant databases
- (2011) Ivo F. A. C. Fokkema et al. HUMAN MUTATION
- Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer
- (2011) Kai Wang et al. NATURE GENETICS
- Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome
- (2010) Reinhard Schneppenheim et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mammalian SWI/SNF-A Subunit BAF250/ARID1 Is an E3 Ubiquitin Ligase That Targets Histone H2B
- (2010) X. S. Li et al. MOLECULAR AND CELLULAR BIOLOGY
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- ARID1AMutations in Endometriosis-Associated Ovarian Carcinomas
- (2010) Kimberly C. Wiegand et al. NEW ENGLAND JOURNAL OF MEDICINE
- Nicolaides-Baraitser syndrome: Delineation of the phenotype
- (2009) Sérgio B. Sousa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome
- (2008) Anwar Baban et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- ES cell pluripotency and germ-layer formation require the SWI/SNF chromatin remodeling component BAF250a
- (2008) X. Gao et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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