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

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

(2013) Shawna M. Pyott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in WNT1 Cause Different Forms of Bone Fragility

(2013) Katharina Keupp 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

Mutations in WNT1 are a cause of osteogenesis imperfecta

(2013) Somayyeh Fahiminiya et al.   JOURNAL OF MEDICAL GENETICS

WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

(2013) Christine M. Laine et al.   NEW ENGLAND JOURNAL OF MEDICINE

Pregnancy Outcomes Among Patients With Vasculitis

(2013) Megan E. B. Clowse et al.   ARTHRITIS CARE & 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

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

Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability

(2012) Joshua Burns et al.   ANNALS OF NEUROLOGY

The Rare Diseases Clinical Research Network Contact Registry update: Features and functionality

(2012) Rachel L. Richesson et al.   Contemporary Clinical Trials

Rare disease clinical research network's urea cycle consortium delivers a successful clinical trial to improve alternate pathway therapy

(2012) Pramod K. Mistry   HEPATOLOGY

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

(2012) George A. Diaz et al.   HEPATOLOGY

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined byTMEM38Bmutation

(2012) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria

(2012) Sandesh C.S. Nagamani et al.   MOLECULAR GENETICS AND METABOLISM

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

(2011) Jutta Becker et al.   AMERICAN 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

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

Axial and appendicular bone density predict fractures in older women

(2010) Dennis M. Black 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

Severe Osteogenesis Imperfecta in Cyclophilin B–Deficient Mice

(2009) Jae Won Choi et al.   PLoS Genetics

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

(2008) Mendel Tuchman et al.   MOLECULAR GENETICS AND METABOLISM

Progress in Childhood Cancer: 50 Years of Research Collaboration, a Report From the Children's Oncology Group

(2008) Maura O'Leary et al.   SEMINARS IN ONCOLOGY