Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

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

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

(2012) P.V. Asharani 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

Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

(2012) Marianne Rohrbach et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL 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

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

(2012) Maria Trinidad Puig-Hervás et al.   HUMAN MUTATION

Absence ofFKBP10in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix

(2012) Aileen M. Barnes et al.   HUMAN MUTATION

Introduction of a New Standardized Assessment Score of Spine Morphology in Osteogenesis Imperfecta

(2012) F. Koerber et al.   ROFO-FORTSCHRITTE AUF DEM GEBIET DER RONTGENSTRAHLEN UND DER BILDGEBENDEN VERFAHREN

A scoring system for the assessment of clinical severity in osteogenesis imperfecta

(2012) Mona S. Aglan et al.   Journal of Childrens Orthopaedics

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

(2011) Jutta Becker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

(2011) Ranad Shaheen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

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

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

(2011) Shawna M. Pyott et al.   HUMAN MOLECULAR GENETICS

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

(2011) Víctor Martínez-Glez et al.   HUMAN MUTATION

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

(2011) Erica P Homan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?

(2010) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

(2010) Helena E. Christiansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

(2010) Brian P Kelley et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding

(2010) Aileen M. Barnes et al.   NEW ENGLAND JOURNAL OF MEDICINE

PPIB Mutations Cause Severe Osteogenesis Imperfecta

(2009) Fleur S. van Dijk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

(2009) Joan C. Marini et al.   CELL AND TISSUE RESEARCH

Classification of Osteogenesis Imperfecta revisited

(2009) F.S. Van Dijk et al.   European Journal of Medical Genetics

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

(2009) Weizhong Chang et al.   HUMAN MOLECULAR GENETICS