A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing
Authors
Keywords
-
Journal
JOURNAL OF HUMAN GENETICS
Volume 60, Issue 12, Pages 769-776
Publisher
Springer Nature
Online
2015-09-17
DOI
10.1038/jhg.2015.112
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
- (2015) Paulien A. Terhal et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country
- (2014) Sheela Nampoothiri et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta
- (2014) Elisa Rubinato et al. GENE
- Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia
- (2014) Yu Wang et al. JOURNAL OF HUMAN GENETICS
- Statin treatment rescues FGFR3 skeletal dysplasia phenotypes
- (2014) Akihiro Yamashita et al. NATURE
- Children with short-limbed short stature in pediatric endocrinological services in Japan
- (2014) Kosei Hasegawa et al. PEDIATRICS INTERNATIONAL
- A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles and determination of potential phenocopies
- (2013) Claudia Matos-Miranda et al. GENETICS IN MEDICINE
- Mutation-based growth charts for SEDC and other COL2A1 related dysplasias
- (2012) Paulien A. Terhal et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets
- (2012) Signe S Beck-Nielsen et al. JOURNAL OF HUMAN GENETICS
- PAPSS2mutations cause autosomal recessive brachyolmia
- (2012) Noriko Miyake et al. JOURNAL OF MEDICAL GENETICS
- A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012
- (2012) Yazhou Cui et al. Orphanet Journal of Rare Diseases
- Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
- (2011) Carine Le Goff et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Nosology and classification of genetic skeletal disorders: 2010 revision
- (2011) Matthew L. Warman et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type
- (2011) Marcos Morey et al. BMC Medical Genetics
- Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
- (2011) Gail C. Jackson et al. HUMAN MUTATION
- Clinical phenotypes associated with type II collagen mutations
- (2011) Peter Kannu et al. JOURNAL OF PAEDIATRICS AND CHILD HEALTH
- DominantTRPV4mutations in nonlethal and lethal metatropic dysplasia
- (2010) Natalia Camacho et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
- (2009) Deborah Krakow et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata
- (2008) Michelle Nino et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started