What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases

Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

(2015) Roberto Mendoza-Londono et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB

(2015) Frank Rauch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

(2015) Lutz Garbes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rib Fractures in Osteogenesis Imperfecta

(2015) Susan C. Shelmerdine et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Two mutations inIFITM5causing distinct forms of osteogenesis imperfecta

(2014) Encarna Guillén-Navarro et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers

(2014) R.M. Patel et al.   CLINICAL GENETICS

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