What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases
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Title
What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 169, Issue 4, Pages 307-313
Publisher
Wiley
Online
2015-11-14
DOI
10.1002/ajmg.c.31459
References
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Related references
Note: Only part of the references are listed.- Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC
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- (2015) Susan C. Shelmerdine et al. JOURNAL OF PEDIATRIC ORTHOPAEDICS
- Two mutations inIFITM5causing distinct forms of osteogenesis imperfecta
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- A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers
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- Evaluating Children With Fractures for Child Physical Abuse
- (2014) E. G. Flaherty et al. PEDIATRICS
- WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
- (2013) Shawna M. Pyott et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by anIFITM5Mutation
- (2013) Jay R Shapiro et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Osteogenesis imperfecta without features of type V caused by a mutation in theIFITM5gene
- (2013) Monica Grover et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Fractures at Diagnosis in Infants and Children With Osteogenesis Imperfecta
- (2013) Christopher S. Greeley et al. JOURNAL OF PEDIATRIC ORTHOPAEDICS
- Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
- (2013) Sofie Symoens et al. Orphanet Journal of Rare Diseases
- Evaluation for Bleeding Disorders in Suspected Child Abuse
- (2013) J. D. Anderst et al. PEDIATRICS
- A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V
- (2012) Tae-Joon Cho et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus
- (2012) Oliver Semler et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recessively Inherited Forms of Osteogenesis Imperfecta
- (2012) Peter H. Byers et al. Annual Review of Genetics
- Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
- (2012) U. Schwarze et al. HUMAN MOLECULAR GENETICS
- Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of theIFITM5c.−14C>T mutation in all patients
- (2012) Frank Rauch et al. JOURNAL OF MEDICAL GENETICS
- Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined byTMEM38Bmutation
- (2012) Ranad Shaheen et al. JOURNAL OF MEDICAL GENETICS
- EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
- (2011) Fleur S van Dijk et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
- (2011) Víctor Martínez-Glez et al. HUMAN MUTATION
- Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta
- (2010) Pablo Lapunzina et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
- (2010) Yasemin Alanay et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Birth prevalence rates of skeletal dysplasias
- (2010) Claude Stoll et al. CLINICAL GENETICS
- Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: Clues to pathogenesis
- (2010) Paul Arundel et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Fractures and Traumatic Brain Injuries: Abuse Versus Accidents in a US Database of Hospitalized Children
- (2010) J. M. Leventhal et al. PEDIATRICS
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