Lista de obras - Carine Le Goff - Dominio Público Uruguay

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

scientific article published on 24 January 2020

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

artículo científico publicado en 2008

Adamts5, the gene encoding a proteoglycan-degrading metalloprotease, is expressed by specific cell lineages during mouse embryonic development and in adult tissues.

artículo científico publicado en 2009

Adamts9 is widely expressed during mouse embryo development.

artículo científico publicado en 2005

Chondrodysplasias and TGFβ signaling

artículo científico

Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients

scholarly article published in European Journal of Human Genetics

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

artículo científico publicado en 2012

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

artículo científico publicado en 2018

From tall to short: The role of TGFβ signaling in growth and its disorders ⬇️

artículo científico publicado el 12 de julio de 2012

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

artículo científico publicado en 2012

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

artículo científico publicado en 2016

Hypoalphalipoproteinemia and BRAF V600E Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester Disease

artículo científico publicado en 2018

Identification of CANT1 mutations in Desbuquois dysplasia

scientific article published on 22 October 2009

In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome

artículo científico publicado en 2010

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

artículo científico publicado en 2011

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

artículo científico publicado en 2011

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

artículo científico publicado en 2016

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

artículo científico publicado en 2011

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

artículo científico publicado en 2014

Myhre syndrome

artículo científico

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

artículo científico publicado en 2012

Novel mutations in geleophysic dysplasia type 1.

artículo científico publicado en 2013

Orthopedics management of acromicric dysplasia: Follow up of nine patients

artículo científico publicado en 2013

Positive role of cell wall anchored proteinase PrtP in adhesion of lactococci

artículo científico publicado en 2007

Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis

scientific journal article

The ADAMTS(L) family and human genetic disorders ⬇️

artículo científico publicado el 31 de agosto de 2011

Lista de obras de Carine Le Goff

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

Adamts5, the gene encoding a proteoglycan-degrading metalloprotease, is expressed by specific cell lineages during mouse embryonic development and in adult tissues.

Adamts9 is widely expressed during mouse embryo development.

Chondrodysplasias and TGFβ signaling

Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

From tall to short: The role of TGFβ signaling in growth and its disorders ⬇️

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

Hypoalphalipoproteinemia and BRAF V600E Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester Disease

Identification of CANT1 mutations in Desbuquois dysplasia

In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Myhre syndrome

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

Novel mutations in geleophysic dysplasia type 1.

Orthopedics management of acromicric dysplasia: Follow up of nine patients

Positive role of cell wall anchored proteinase PrtP in adhesion of lactococci

Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis

The ADAMTS(L) family and human genetic disorders ⬇️