Two mutations inIFITM5causing distinct forms of osteogenesis imperfecta

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

A recurrent mutation in the 5′-UTR ofIFITM5causes osteogenesis imperfecta type V

(2013) Masaki Takagi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2013) José A. Caparrós-Martin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype–phenotype study in type V osteogenesis imperfecta

(2013) Meena Balasubramanian et al.   CLINICAL DYSMORPHOLOGY

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

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

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

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

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

Evolutionary Dynamics of the Interferon-Induced Transmembrane Gene Family in Vertebrates

(2012) Zhao Zhang et al.   PLoS One

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

Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice

(2010) Nobutaka Hanagata et al.   JOURNAL OF BONE AND MINERAL METABOLISM

PPIB Mutations Cause Severe Osteogenesis Imperfecta

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

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS