Identification andIn VivoFunctional Characterization of Novel Compound HeterozygousBMP1Variants in Osteogenesis Imperfecta

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

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

Report of a newly indentified patient with mutations inBMP1and underlying pathogenetic aspects

(2014) María Valencia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A hemizygous GYG2 mutation and Leigh syndrome: a possible link?

(2013) Eri Imagawa et al.   HUMAN GENETICS

Mutations in WNT1 are a cause of osteogenesis imperfecta

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

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

(2013) Sofie Symoens et al.   Orphanet Journal of Rare Diseases

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

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

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

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

PPIB Mutations Cause Severe Osteogenesis Imperfecta

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