International nosology and classification of constitutional disorders of bone (2001).
about
BrachydactylyMMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved geneSchimke immuno-osseous dysplasia: a clinicopathological correlationRadiological diagnosis of the constitutional disorders of bone. As easy as A, B, C?Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosisCurrent themes in molecular pediatrics: molecular medicine and its applications.An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia.Guidelines for the prenatal diagnosis of fetal skeletal dysplasiasGenetic disorders of the skeleton: a developmental approachIncreased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth.The genetic basis for skeletal diseases.Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.Health status of adults with short stature: a comparison with the normal population and one well-known chronic disease (rheumatoid arthritis)Stapes surgery in osteogenesis imperfecta in Finland.Newer imaging modalities in the prenatal diagnosis of skeletal dysplasias.COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasiaCo-clustering phenome-genome for phenotype classification and disease gene discovery.Pamidronate alters the growth plate in the oim mouse model for osteogenesis imperfecta.What MAN1 does to the Smads. TGFbeta/BMP signaling and the nuclear envelope.Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic.A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.Brachydactyly E: isolated or as a feature of a syndromeInfantile osteopetrosis with superimposed rickets.Upper cervical spine fusion in children with skeletal dysplasia.Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases.Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center.Infantile osteopetrosis associated with osteomyelitis.Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.Thanatophoric dysplasia: autopsy findings over a 25-year period.Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.Cyclic bisphosphonate therapy in osteogenesis imperfecta type V.Depletion of cartilage collagen fibrils in mice carrying a dominant negative Col2a1 transgene affects chondrocyte differentiation.The nature of cartilage stippling in chondrodysplasia punctata: histopathological study of Conradi-Hünermann syndrome.Bone dysplasia in the radial and ulnar metaphysis of a Newfoundland dog.Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature.Nosology and classification of genetic skeletal disorders: 2015 revision.The angel in the marble.
P2860
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P2860
International nosology and classification of constitutional disorders of bone (2001).
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
International nosology and classification of constitutional disorders of bone (2001).
@en
International nosology and classification of constitutional disorders of bone
@nl
type
label
International nosology and classification of constitutional disorders of bone (2001).
@en
International nosology and classification of constitutional disorders of bone
@nl
prefLabel
International nosology and classification of constitutional disorders of bone (2001).
@en
International nosology and classification of constitutional disorders of bone
@nl
P2860
P356
P1476
International nosology and classification of constitutional disorders of bone (2001).
@en
P2860
P356
10.1002/AJMG.10828
P577
2002-11-01T00:00:00Z