DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum

Osteogenesis imperfecta

(2016) Antonella Forlino et al.   LANCET

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

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

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2015) Melanie G. Pepin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions

(2015) Ghalib Bardai et al.   CALCIFIED TISSUE INTERNATIONAL

Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta

(2015) Katarina Lindahl et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

(2014) F.S. Van Dijk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Targeted Sequencing of a Pediatric Metabolic Bone Gene Panel Using a Desktop Semiconductor Next-Generation Sequencer

(2014) Frank Rauch et al.   CALCIFIED TISSUE INTERNATIONAL

A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children

(2014) Somayyeh Fahiminiya et al.   HUMAN MOLECULAR GENETICS

Osteoporosis Caused by Mutations inPLS3: Clinical and Bone Tissue Characteristics

(2014) Somayyeh Fahiminiya et al.   JOURNAL OF BONE AND MINERAL RESEARCH

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

Lack of Circulating Pigment Epithelium-Derived Factor Is a Marker of Osteogenesis Imperfecta Type VI

(2012) Frank Rauch et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

(2011) Fleur S van Dijk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

A population-based study of demographical variables and ability to perform activities of daily living in adults with osteogenesis imperfecta

(2010) Lena Lande Wekre et al.   DISABILITY AND REHABILITATION