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Title
Rare
SUZ12
variants commonly cause an overgrowth phenotype
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 181, Issue 4, Pages 532-547
Publisher
Wiley
Online
2019-11-18
DOI
10.1002/ajmg.c.31748
References
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Related references
Note: Only part of the references are listed.- Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
- (2019) Catherine J. Spellicy et al. JOURNAL OF HUMAN GENETICS
- EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome
- (2019) Sara Griffiths et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Novel SUZ12 mutations in Weaver-like syndrome
- (2018) Eri Imagawa et al. CLINICAL GENETICS
- Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome
- (2018) Robert Smigiel et al. JOURNAL OF HUMAN GENETICS
- Unique Structural Platforms of Suz12 Dictate Distinct Classes of PRC2 for Chromatin Binding
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- Structures of human PRC2 with its cofactors AEBP2 and JARID2
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- COSMIC: the Catalogue Of Somatic Mutations In Cancer
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- Emerging genotype–phenotype relationships in patients with large NF1 deletions
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- Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome
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- Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity
- (2017) Julian C Lui et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- NovelEEDmutation in patient with Weaver syndrome
- (2016) Erin Cooney et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro
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- EED-associated overgrowth in a second male patient
- (2016) Ana SA Cohen et al. JOURNAL OF HUMAN GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Mechanism and regulation of the nonsense-mediated decay pathway
- (2016) Nele Hug et al. NUCLEIC ACIDS RESEARCH
- JAZF1/SUZ12 gene fusion in endometrial stromal sarcomas
- (2016) Andelko Hrzenjak Orphanet Journal of Rare Diseases
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- (2015) Eric Conway et al. CURRENT OPINION IN CELL BIOLOGY
- GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
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- Structural basis of histone H3K27 trimethylation by an active polycomb repressive complex 2
- (2015) L. Jiao et al. SCIENCE
- Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
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- Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors
- (2014) Ming Zhang et al. NATURE GENETICS
- Weaver syndrome andEZH2mutations: Clarifying the clinical phenotype
- (2013) Katrina Tatton-Brown et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Elements of the Polycomb Repressor SU(Z)12 Needed for Histone H3-K27 Methylation, the Interface with E(Z), and In Vivo Function
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- Weaver syndrome and defective cortical development: A rare association
- (2012) Ahmed Al-Salem et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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- Mutations in EZH2 Cause Weaver Syndrome
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- Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions
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- Mutations and deletions of the SUZ12 polycomb gene in myeloproliferative neoplasms
- (2011) M Brecqueville et al. Blood Cancer Journal
- A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2
- (2010) Kathrin Bengesser et al. HUMAN MUTATION
- NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
- (2010) Eric Pasmant et al. HUMAN MUTATION
- Haploinsufficiency of the murine polycomb gene Suz12 results in diverse malformations of the brain and neural tube
- (2009) X. Miro et al. Disease Models & Mechanisms
- ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
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