Truncating mutations in the last exon ofNOTCH3cause lateral meningocele syndrome
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Title
Truncating mutations in the last exon ofNOTCH3cause lateral meningocele syndrome
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 167, Issue 2, Pages 271-281
Publisher
Wiley
Online
2014-11-14
DOI
10.1002/ajmg.a.36863
References
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Related references
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- Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain
- (2013) Marco Castori et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans
- (2013) Julie W. Rutten et al. HUMAN MUTATION
- Response to “Lateral Meningocele Syndrome and Hajdu-Cheney Syndrome: Different Disorders With Overlapping Phenotypes” by Gripp
- (2011) Kristiina Avela et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Hajdu-Cheney syndrome with severe dural ectasia
- (2011) Kristiina Avela et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Lateral meningocele syndrome and Hajdu-Cheney syndrome: Different disorders with overlapping phenotypes
- (2011) Karen W. Gripp AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
- (2011) Bertrand Isidor et al. NATURE GENETICS
- Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
- (2011) Michael A Simpson et al. NATURE GENETICS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2
- (2010) S Sheikhzadeh et al. CLINICAL GENETICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Osteosclerosis owing to Notch gain of function is solely Rbpj-dependent
- (2010) Jianning Tao et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Notch3: from subtle structural differences to functional diversity
- (2008) D Bellavia et al. ONCOGENE
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