The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.
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Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancerA clinical and genetic study of campomelic dysplasia.Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex.Mild Campomelic Dysplasia: Report on a Case and ReviewThe new collagen gene COL27A1 contains SOX9-responsive enhancer elementsCampomelic dysplasiaDeletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasiaMutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversalSox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal deathZebrafish Germ Cell TumorsA novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversalA new long form of c-Maf cooperates with Sox9 to activate the type II collagen geneCampomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related geneIsolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversalGenome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary functionSox9 is required for precursor cell expansion and extracellular matrix organization during mouse heart valve developmentEssential role of Sox9 in the pathway that controls formation of cardiac valves and septaSox9 plays multiple roles in the lung epithelium during branching morphogenesisHydroureternephrosis due to loss of Sox9-regulated smooth muscle cell differentiation of the ureteric mesenchymeRbt (Rabo torcido), a new mouse skeletal mutation involved in anteroposterior patterning of the axial skeleton, maps close to the Ts (tail-short) locus and distal to the Sox9 locus on chromosome 11Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralizationSOX9 controls epithelial branching by activating RET effector genes during kidney developmentLong-term consequences of Sox9 depletion on inner ear development.Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersSox9 in a teleost fish, medaka (Oryzias latipes): evidence for diversified function of Sox9 in gonad differentiation.Genetic study of SOX9 in a case of campomelic dysplasia.Human sex determination.Two new cases of Cumming syndrome confirming autosomal recessive inheritance.Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocationCampomelic dysplasia: evidence of autosomal dominant inheritance.Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.The malformed kidney: disruption of glomerular and tubular development.Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasiaKyphomelic dysplasia: a rare form of semilethal skeletal dysplasia.A case of campomelic dysplasia in whom a new mutation was found in the SOX9 geneSox9 function in craniofacial development and disease.The versatile functions of Sox9 in development, stem cells, and human diseasesTranslational genetics for diagnosis of human disorders of sex development
P2860
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P2860
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.
description
1983 nî lūn-bûn
@nan
1983年の論文
@ja
1983年論文
@yue
1983年論文
@zh-hant
1983年論文
@zh-hk
1983年論文
@zh-mo
1983年論文
@zh-tw
1983年论文
@wuu
1983年论文
@zh
1983年论文
@zh-cn
name
The campomelic syndrome: revie ...... ed by Maroteaux et al in 1971.
@en
type
label
The campomelic syndrome: revie ...... ed by Maroteaux et al in 1971.
@en
prefLabel
The campomelic syndrome: revie ...... ed by Maroteaux et al in 1971.
@en
P2093
P356
P1476
The campomelic syndrome: revie ...... ed by Maroteaux et al in 1971.
@en
P2093
Gilbert EF
Herrmann J
Houston CS
Macpherson RI
Schinzel A
Spranger JW
P2860
P356
10.1002/AJMG.1320150103
P577
1983-05-01T00:00:00Z