标题
SETD2andDNMT3Ascreen in the Sotos-like syndrome French cohort
作者
关键词
-
出版物
JOURNAL OF MEDICAL GENETICS
Volume 53, Issue 11, Pages 743-751
出版商
BMJ
发表日期
2016-06-18
DOI
10.1136/jmedgenet-2015-103638
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- DNMT3A Mutational Status Affects the Results of Dose-Escalated Induction Therapy in Acute Myelogenous Leukemia
- (2015) A. R. Sehgal et al. CLINICAL CANCER RESEARCH
- A novel mutation in EED associated with overgrowth
- (2015) Ana S A Cohen et al. JOURNAL OF HUMAN GENETICS
- SETD2 loss-of-function promotes renal cancer branched evolution through replication stress and impaired DNA repair
- (2015) N Kanu et al. ONCOGENE
- De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability
- (2014) Detelina Grozeva et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Enforced differentiation of Dnmt3a-null bone marrow leads to failure with c-Kit mutations driving leukemic transformation
- (2014) H. Celik et al. BLOOD
- Dnmt3a loss predisposes murine hematopoietic stem cells to malignant transformation
- (2014) A. Mayle et al. BLOOD
- Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
- (2014) Alma Kuechler et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
- (2014) Eric Pasmant et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
- (2014) Hane Lee et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Mutations inSETD2cause a novel overgrowth condition
- (2014) Armelle Luscan et al. JOURNAL OF MEDICAL GENETICS
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia
- (2014) Liran I. Shlush et al. NATURE
- Structural insight into autoinhibition and histone H3-induced activation of DNMT3A
- (2014) Xue Guo et al. NATURE
- Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
- (2014) Katrina Tatton-Brown et al. NATURE GENETICS
- Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence
- (2014) Giulio Genovese et al. NEW ENGLAND JOURNAL OF MEDICINE
- Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes
- (2014) Siddhartha Jaiswal et al. NEW ENGLAND JOURNAL OF MEDICINE
- Weaver syndrome andEZH2mutations: Clarifying the clinical phenotype
- (2013) Katrina Tatton-Brown et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Phenotypic Spectrum of Simpson-Golabi-Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature
- (2013) EDOUARD COTTEREAU et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- The role of genetics in the establishment and maintenance of the epigenome
- (2013) Covadonga Huidobro et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- (2012) Brian J. O’Roak et al. NATURE
- Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
- (2012) Dewi Astuti et al. NATURE GENETICS
- Epigenetic protein families: a new frontier for drug discovery
- (2012) Cheryl H. Arrowsmith et al. NATURE REVIEWS DRUG DISCOVERY
- Understanding the language of Lys36 methylation at histone H3
- (2012) Eric J. Wagner et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- DNMT3A mutations in acute myeloid leukemia: stability during disease evolution and clinical implications
- (2011) H.-A. Hou et al. BLOOD
- Dnmt3a is essential for hematopoietic stem cell differentiation
- (2011) Grant A Challen et al. NATURE GENETICS
- Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
- (2010) Valérie Malan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Dnmt3a PWWP Domain Reads Histone 3 Lysine 36 Trimethylation and Guides DNA Methylation
- (2010) Arunkumar Dhayalan et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- DNMT3AMutations in Acute Myeloid Leukemia
- (2010) Timothy J. Ley et al. NEW ENGLAND JOURNAL OF MEDICINE
- Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function
- (2010) A. K. Lucio-Eterovic et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Structural basis for recognition of H3K4 methylation status by the DNA methyltransferase 3A ATRX–DNMT3–DNMT3L domain
- (2009) Junji Otani et al. EMBO REPORTS
- Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma
- (2009) M. Berdasco et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The Iws1:Spt6:CTD complex controls cotranscriptional mRNA biosynthesis and HYPB/Setd2-mediated histone H3K36 methylation
- (2008) S. M. Yoh et al. GENES & DEVELOPMENT
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