about
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulationThe ADAMTS(L) family and human genetic disordersExome sequencing identifies PDE4D mutations as another cause of acrodysostosisRegulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxisPositive role of cell wall anchored proteinase PrtP in adhesion of lactococciMutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.Myhre and LAPS syndromes: clinical and molecular review of 32 patients.Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.Adamts5, the gene encoding a proteoglycan-degrading metalloprotease, is expressed by specific cell lineages during mouse embryonic development and in adult tissues.Identification of CANT1 mutations in Desbuquois dysplasia.From tall to short: the role of TGFβ signaling in growth and its disorders.Myhre syndrome.Chondrodysplasias and TGFβ signaling.In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome.Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.Novel mutations in geleophysic dysplasia type 1.Adamts9 is widely expressed during mouse embryo development.Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.Orthopedics management of acromicric dysplasia: Follow up of nine patientsErratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patientsHypoalphalipoproteinemia and BRAF V600E Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester DiseaseExpanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaA new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis
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description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Carine Le Goff
@ast
Carine Le Goff
@en
Carine Le Goff
@es
Carine Le Goff
@nl
type
label
Carine Le Goff
@ast
Carine Le Goff
@en
Carine Le Goff
@es
Carine Le Goff
@nl
prefLabel
Carine Le Goff
@ast
Carine Le Goff
@en
Carine Le Goff
@es
Carine Le Goff
@nl
P106
P21
P31
P496
0000-0002-7788-708X