SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature
出版年份 2019 全文链接
标题
SETD2
related overgrowth syndrome: Presentation of four new patients and review of the literature
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 181, Issue 4, Pages 509-518
出版商
Wiley
发表日期
2019-10-24
DOI
10.1002/ajmg.c.31746
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。- Overgrowth syndromes — clinical and molecular aspects and tumour risk
- (2019) Frédéric Brioude et al. Nature Reviews Endocrinology
- Two novel cases expanding the phenotype of SETD2 -related overgrowth syndrome
- (2018) Maartje C. van Rij et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Further delineation of Malan syndrome
- (2018) Manuela Priolo et al. HUMAN MUTATION
- Common cancer-driver mutations and their association with abnormally methylated genes in lung adenocarcinoma from never-smokers
- (2018) Mathewos Tessema et al. LUNG CANCER
- Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2
- (2017) Andrea B. Moffitt et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Structure/Function Analysis of Recurrent Mutations in SETD2 Protein Reveals a Critical and Conserved Role for a SET Domain Residue in Maintaining Protein Stability and Histone H3 Lys-36 Trimethylation
- (2016) Kathryn E. Hacker et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- SETD2andDNMT3Ascreen in the Sotos-like syndrome French cohort
- (2016) Camille Tlemsani et al. JOURNAL OF MEDICAL GENETICS
- Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia
- (2016) H Parker et al. LEUKEMIA
- 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
- SETD2histone modifier loss in aggressive GI stromal tumours
- (2015) Kie Kyon Huang et al. GUT
- Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
- (2015) Katrina Tatton-Brown et al. Oncotarget
- Mutations inSETD2cause a novel overgrowth condition
- (2014) Armelle Luscan et al. JOURNAL OF MEDICAL GENETICS
- Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
- (2014) Katrina Tatton-Brown et al. NATURE GENETICS
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- (2012) Brian J. O’Roak et al. NATURE
- Understanding the language of Lys36 methylation at histone H3
- (2012) Eric J. Wagner et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Mutations in EZH2 Cause Weaver Syndrome
- (2011) William T. Gibson et al. AMERICAN JOURNAL OF HUMAN GENETICS
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