Understanding the phenotypic spectrum of ASXL ‐related disease: Ten cases and a review of the literature
出版年份 2021 全文链接
标题
Understanding the phenotypic spectrum of
ASXL
‐related disease: Ten cases and a review of the literature
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2021-03-10
DOI
10.1002/ajmg.a.62156
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。- Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother
- (2018) Emma Bedoukian et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome
- (2018) Kenneth A. Myers et al. EPILEPSY RESEARCH
- Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients withde novo, heterozygous, loss-of-function mutations inASXL3and review of published literature
- (2017) M Balasubramanian et al. JOURNAL OF MEDICAL GENETICS
- Loss of Asxl2 leads to myeloid malignancies in mice
- (2017) Jianping Li et al. Nature Communications
- ASXL2 is essential for haematopoiesis and acts as a haploinsufficient tumour suppressor in leukemia
- (2017) Jean-Baptiste Micol et al. Nature Communications
- De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
- (2016) Vandana Shashi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Novel splicing mutation in theASXL3gene causing Bainbridge-Ropers syndrome
- (2016) Ikumi Hori et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
- (2016) Alma Kuechler et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- BAP1/ASXL1 recruitment and activation for H2A deubiquitination
- (2016) Danny D. Sahtoe et al. Nature Communications
- Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
- (2015) Bianca Russell et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- De novodominantASXL3mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome
- (2015) Anshika Srivastava et al. HUMAN MOLECULAR GENETICS
- The BAP1/ASXL2 Histone H2A Deubiquitinase Complex Regulates Cell Proliferation and Is Disrupted in Cancer
- (2015) Salima Daou et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- UnlikeASXL1andASXL2mutations,ASXL3mutations are rare events in acute myeloid leukemia with t(8;21)
- (2015) Nicolas Duployez et al. LEUKEMIA & LYMPHOMA
- ASXL2 Regulates Glucose, Lipid, and Skeletal Homeostasis
- (2015) Takashi Izawa et al. Cell Reports
- Clinical whole exome sequencing in child neurology practice
- (2014) Siddharth Srivastava et al. ANNALS OF NEUROLOGY
- Loss of Asxl1 leads to myelodysplastic syndrome-like disease in mice
- (2013) J. Wang et al. BLOOD
- De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies
- (2013) Darrell L Dinwiddie et al. BMC Medical Genomics
- Functional and cancer genomics of ASXL family members
- (2013) M Katoh BRITISH JOURNAL OF CANCER
- Additional Sex Combs-Like 2 Is Required for Polycomb Repressive Complex 2 Binding at Select Targets
- (2013) Hsiao-Lei Lai et al. PLoS One
- De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
- (2013) Matthew N Bainbridge et al. Genome Medicine
- Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations
- (2012) Pamela Magini et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- ASXL1 Mutations Promote Myeloid Transformation through Loss of PRC2-Mediated Gene Repression
- (2012) Omar Abdel-Wahab et al. CANCER CELL
- De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
- (2011) Alexander Hoischen et al. NATURE GENETICS
- Mouse Genome-Wide Association and Systems Genetics Identify Asxl2 As a Regulator of Bone Mineral Density and Osteoclastogenesis
- (2011) Charles R. Farber et al. PLoS Genetics
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More