Coffin-siris Syndrome
What's New
Last Posted: Mar 09, 2023
- Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.
Okamoto Nobuhiko, et al. Congenital anomalies 2017 0 (3) 105-107 - Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.
Holsten Till, et al. European journal of human genetics : EJHG 2018 0 (8) 1083-1093 - SMARCE1-related Coffin-Siris Syndrome: Case report and otolaryngologic manifestations of the syndrome.
Reed Leighton, et al. International journal of pediatric otorhinolaryngology 2019 0 109735 - Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene.
Lian Sophie, et al. Journal of the neurological sciences 2020 0 116819 - Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.
Qian Yanyan, et al. Journal of autism and developmental disorders 2021 0 (11) 5033-5041 - Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.
Lee Yena, et al. BMC medical genomics 2021 0 (1) 254 - Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.
Vasko Ashley, et al. Genes 2021 0 (6) - Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience.
Cho Chih-Yi, et al. Journal of the Formosan Medical Association = Taiwan yi zhi 2021 0 (1 Pt 1) 218-226 - High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.
Belanger Deloge Raymond, et al. European journal of human genetics : EJHG 2022 0 - [Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome].
Xiang Yanbao, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 0 (3) 282-285 - Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Chen Chun-An, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 0 (2) 364-373 - Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.
Li Dong, et al. American journal of medical genetics. Part A 2021 0 (3) 878-882 - High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.
Diets Illja J, et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 0 (7) 1594-1603 - "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma".
Cárcamo Benjamín, et al. European journal of medical genetics 2022 8 (11) 104600 - Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi Futoshi, et al. Journal of human genetics 2019 9 - First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations.
Mannino Elizabeth A et al. American journal of medical genetics. Part A 2018 Oct - De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.
Yu Yongguo, et al. BMC genomics 2015 0 (1) 701 - Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
Kosho Tomoki, et al. American journal of medical genetics. Part C, Seminars in medical genetics 2014 9 (3) 262-75 - Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Santen Gijs W E, et al. Human mutation 2013 11 (11) 1519-28 - Coffin-Siris syndrome
From NCATS Genetic and Rare Diseases Information Center
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