Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships
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A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfectaCommon variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese womenNull mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfectaHomozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfectaEndoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and XMutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients.Generalized connective tissue disease in Crtap-/- mouse.CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VIIGenotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities.Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.Identification of gene mutation in patients with osteogenesis imperfect using high resolution melting analysisNew perspectives on osteogenesis imperfectaRecessive osteogenesis imperfecta: clinical, radiological, and molecular findings.Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure.Advances in the Classification and Treatment of Osteogenesis Imperfecta.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.Pregnancy outcomes in women with osteogenesis imperfecta.Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions.Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patientsAn ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescueAllelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.Identification of a candidate mutation in the COL1A2 gene of a Chow Chow with osteogenesis imperfecta.Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.Novel COL1A1 Mutation c.3290G>T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus.No evidence for disturbed COL1A1 and A2 expression in otosclerosis.Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP.Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritanceCongenital malformations
P2860
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P2860
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships
description
2009 nî lūn-bûn
@nan
2009 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Mutation and polymorphism spec ...... notype-phenotype relationships
@ast
Mutation and polymorphism spec ...... notype-phenotype relationships
@en
Mutation and polymorphism spec ...... notype-phenotype relationships
@nl
type
label
Mutation and polymorphism spec ...... notype-phenotype relationships
@ast
Mutation and polymorphism spec ...... notype-phenotype relationships
@en
Mutation and polymorphism spec ...... notype-phenotype relationships
@nl
prefLabel
Mutation and polymorphism spec ...... notype-phenotype relationships
@ast
Mutation and polymorphism spec ...... notype-phenotype relationships
@en
Mutation and polymorphism spec ...... notype-phenotype relationships
@nl
P2093
P2860
P50
P3181
P356
P1476
Mutation and polymorphism spec ...... notype-phenotype relationships
@en
P2093
Annie Poon
Dale L Bodian
Kathleen Yang
Teri E Klein
Ulrike Schwarze
P2860
P304
P3181
P356
10.1093/HMG/DDN374
P407
P577
2008-11-07T00:00:00Z