Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment - Wikidata - awgldk - TriplyDB

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment

http://www.wikidata.org/entity/Q27025005

about

Bisphosphonate therapy in pediatric patients Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB Using GWAS to identify novel therapeutic targets for osteoporosis.WHOLE-BODY VIBRATION EXERCISE IMPROVES FUNCTIONAL PARAMETERS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA: A SYSTEMATIC REVIEW WITH A SUITABLE APPROACH.The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.Myostatin deficiency partially rescues the bone phenotype of osteogenesis imperfecta model mice.Interdisciplinary Care Improves Functional Mobility in an Individual with Type IX Osteogenesis Imperfecta.Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV.Quality of life in caregivers of children and adolescents with Osteogenesis Imperfecta.Bone structure assessed by HR-pQCT, TBS and DXL in adult patients with different types of osteogenesis imperfecta.Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.Multiparametric Classification of Skin from Osteogenesis Imperfecta Patients and Controls by Quantitative Magnetic Resonance Microimaging Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta Bulbous epiphysis and popcorn calcification as related to growth plate differentiation in osteogenesis imperfecta Initial report of the osteogenesis imperfecta adult natural history initiative.Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V.Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta Value of rare low bone mass diseases for osteoporosis genetics.Dental panoramic indices and fractal dimension measurements in osteogenesis imperfecta children under pamidronate treatment.Local amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutations Anesthetic Management in a Gravida with Type IV Osteogenesis Imperfecta.Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2.Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure.Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.The dynamics of adult haematopoiesis in the bone and bone marrow environment.A look behind the scenes: the risk and pathogenesis of primary osteoporosis.Stem cell transplantation before birth - a realistic option for treatment of osteogenesis imperfecta?Classification of osteogenesis imperfecta.PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.Health-Related Quality of Life in Adults with Osteogenesis Imperfecta.SPARC/osteonectin in mineralized tissue.Advances in the Classification and Treatment of Osteogenesis Imperfecta.The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review.The clinical features of osteogenesis imperfecta in Vietnam.Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment.Pharmacological and biological therapeutic strategies for osteogenesis imperfecta.Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI).

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P2860

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment

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2014 nî lūn-bûn

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2014年の論文

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2014年論文

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2014年論文

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2014年论文

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Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment

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Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment

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Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment

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American Journal of Medical Genetics Part A

American Journal of Medical Genetics

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Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment

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D.O. Sillence

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F.S. Van Dijk

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Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International

P2860

Mutations in WNT1 cause different forms of bone fragility

PLS3 mutations in X-linked osteoporosis with fractures

Genetic heterogeneity in osteogenesis imperfecta.

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

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.

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

Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible

Type V osteogenesis imperfecta: a new form of brittle bone disease.

The volumetric bone density and cortical thickness in adult patients affected by osteogenesis imperfecta.

Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with osteogenesis imperfecta type I assessed by high-resolution pQCT.

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10.1002/AJMG.A.36545

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osteogenesis imperfecta

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