RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation
出版年份 2013 全文链接
标题
RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation
作者
关键词
-
出版物
HUMAN MUTATION
Volume 34, Issue 12, Pages 1632-1641
出版商
Wiley
发表日期
2013-08-29
DOI
10.1002/humu.22431
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。- Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations
- (2013) Mustapha Amyere et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene
- (2012) Robert S. de Wijn et al. European Journal of Medical Genetics
- 5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C
- (2011) Christopher W. Carr et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- RASA1 analysis: Clinical and molecular findings in a series of consecutive cases
- (2011) Whitney Wooderchak-Donahue et al. European Journal of Medical Genetics
- Hereditary Benign Telangiectasia: Two Families With Punctate Telangiectasias Surrounded by Anemic Halos
- (2010) Hideyuki Ujiie et al. ARCHIVES OF DERMATOLOGY
- Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment
- (2010) Claire L. Shovlin BLOOD REVIEWS
- A Novel Association betweenRASA1Mutations and Spinal Arteriovenous Anomalies
- (2009) R. Thiex et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
- (2009) Hartmut Engels et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
- (2009) N. Le Meur et al. JOURNAL OF MEDICAL GENETICS
- CEREBRAL CAVERNOUS MALFORMATIONS
- (2009) Judith Gault et al. NEUROSURGERY
- A novel mutation in RASA1 causes capillary malformation and limb enlargement
- (2008) Dov Hershkovitz et al. ARCHIVES OF DERMATOLOGICAL RESEARCH
- RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations
- (2008) D. Hershkovitz et al. BRITISH JOURNAL OF DERMATOLOGY
- Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome
- (2008) Ahmad I. Alomari CLINICAL DYSMORPHOLOGY
- Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations
- (2008) Nicole Revencu et al. HUMAN MUTATION
- Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations
- (2008) Nisha Limaye et al. NATURE GENETICS
- Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
- (2008) C. Cardoso et al. NEUROLOGY
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