Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families

Phenotypic variability in patients with osteogenesis imperfecta caused byBMP1mutations

(2016) Rebecca C. Pollitt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Osteogenesis imperfecta

(2016) Antonella Forlino et al.   LANCET

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Mice lacking the intracellular cation channel TRIC-B have compromised collagen production and impaired bone mineralization

(2016) Chengzhu Zhao et al.   Science Signaling

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

(2016) Uschi Lindert et al.   Nature Communications

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta

(2016) Wayne A. Cabral et al.   PLoS Genetics

Mice lacking the intracellular cation channel TRIC-B have compromised collagen production and impaired bone mineralization

(2016) Chengzhu Zhao et al.   Science Signaling

Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

(2015) Roberto Mendoza-Londono et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia

(2015) Sofie Symoens et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

(2015) Lutz Garbes 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

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

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

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families

(2015) Joshi Stephen et al.   European Journal of Medical Genetics

Identification andIn VivoFunctional Characterization of Novel Compound HeterozygousBMP1Variants in Osteogenesis Imperfecta

(2015) Sung Yoon Cho et al.   HUMAN MUTATION

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to BiallelicBMP1Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta

(2015) Delfien Syx et al.   JOURNAL OF BONE AND MINERAL RESEARCH

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

Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases

(2014) E. Barkova et al.   CLINICAL GENETICS

Consanguinity profile in the Gaza Strip of Palestine: Large-scale community-based study

(2014) Mahmoud M. Sirdah   European Journal of Medical Genetics

HSP47 and FKBP65 cooperate in the synthesis of type I procollagen

(2014) Ivan Duran et al.   HUMAN MOLECULAR GENETICS

Differential Effects of Collagen Prolyl 3-Hydroxylation on Skeletal Tissues

(2014) Erica P. Homan et al.   PLoS Genetics

Mutations in WNT1 Cause Different Forms of Bone Fragility

(2013) Katharina Keupp et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

(2013) Anthony M. Vandersteen 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

New Genes in Bone Development: What's New in Osteogenesis Imperfecta

(2013) Joan C. Marini et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1

(2013) Sung Yoon Cho et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

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

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

Allelic background ofLEPRE1mutations that cause recessive forms of osteogenesis imperfecta in different populations

(2013) Melanie G. Pepin et al.   Molecular Genetics & Genomic Medicine

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

(2012) P.V. Asharani 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

Recessively Inherited Forms of Osteogenesis Imperfecta

(2012) Peter H. Byers et al.   Annual Review of 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

Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening ofCOL1A1andCOL1A2point mutations and large rearrangements: Application for diagnosis of osteogenesis imperfecta

(2012) Filomena Valentina Gentile et al.   HUMAN MUTATION

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

(2012) Sofie Symoens 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

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

Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance

(2011) Shawna M Pyott et al.   GENETICS IN MEDICINE

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

Lack of expression ofSERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen

(2011) Giacomo Venturi et al.   JOURNAL OF BONE AND MINERAL RESEARCH

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

Birth prevalence rates of skeletal dysplasias

(2010) Claude Stoll et al.   CLINICAL GENETICS

Consanguinity and reproductive health among Arabs

(2009) Ghazi O Tadmouri et al.   Reproductive Health

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

(2008) Dale L. Bodian et al.   HUMAN MOLECULAR GENETICS

CRTAPandLEPRE1mutations in recessive osteogenesis imperfecta

(2008) Dustin Baldridge et al.   HUMAN MUTATION