Understanding the phenotypic spectrum of ASXL ‐related disease: Ten cases and a review of the literature
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Title
Understanding the phenotypic spectrum of
ASXL
‐related disease: Ten cases and a review of the literature
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2021-03-10
DOI
10.1002/ajmg.a.62156
References
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Related references
Note: Only part of the references are listed.- 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
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