Carine LE GOFF
Carine LE GOFF
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ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation
C Le Goff, F Morice-Picard, N Dagoneau, LW Wang, C Perrot, YJ Crow, ...
Nature genetics 40 (9), 1119-1123, 2008
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
C Le Goff, C Mahaut, LW Wang, S Allali, A Abhyankar, S Jensen, ...
The American Journal of Human Genetics 89 (1), 7-14, 2011
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
C Le Goff, C Mahaut, A Abhyankar, W Le Goff, V Serre, A Afenjar, ...
Nature genetics 44 (1), 85-88, 2012
The ADAMTS (L) family and human genetic disorders
C Le Goff, V Cormier-Daire
Human molecular genetics 20 (R2), R163-R167, 2011
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
C Michot, C Le Goff, A Goldenberg, A Abhyankar, C Klein, E Kinning, ...
The American Journal of Human Genetics 90 (4), 740-745, 2012
Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and …
C Le Goff, RPT Somerville, F Kesteloot, K Powell, DE Birk, AC Colige, ...
Oxford University Press for The Company of Biologists Limited 133 (8), 1587-1596, 2006
Adamts9 is widely expressed during mouse embryo development
KA Jungers, C Le Goff, RPT Somerville, SS Apte
Gene Expression Patterns 5 (5), 609-617, 2005
Positive role of peptidoglycan breaks in lactococcal biofilm formation. Mol. Microbiol. 2002 46(1):235-43.
C Mercier, C Durrieu, R Briandet, E Domakova, J Tremblay, K Saulius.
Molecular Microbiology 46 (1), 235-243, 2002
Identification of CANT1 mutations in Desbuquois dysplasia
C Huber, B Oulès, M Bertoli, M Chami, M Fradin, Y Alanay, LI Al-Gazali, ...
The American Journal of Human Genetics 85 (5), 706-710, 2009
Adamts5, the gene encoding a proteoglycan-degrading metalloprotease, is expressed by specific cell lineages during mouse embryonic development and in adult tissues
DR McCulloch, C Le Goff, S Bhatt, LJ Dixon, JD Sandy, SS Apte
Gene Expression Patterns 9 (5), 314-323, 2009
From tall to short: the role of TGFβ signaling in growth and its disorders
C Le Goff, V Cormier‐Daire
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2012
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes
N Dagoneau, S Bellais, P Blanchet, P Sarda, LI Al-Gazali, M Di Rocco, ...
The American Journal of Human Genetics 80 (5), 966-970, 2007
Positive role of cell wall anchored proteinase PrtP in adhesion of lactococci
O Habimana, C Le Goff, V Juillard, MN Bellon-Fontaine, G Buist, ...
BMC microbiology 7 (1), 1-8, 2007
Estimation of the state of bacterial cell wall by fluorscent in situ hybridisation
E Bidnenko, C Mercier, J Tremblay, P Tailliez, S Kulakauskas
Applied Environmental Microbiology 64, 3059-3062, 1998
Myoferlin regulates cellular lipid metabolism and promotes metastases in triple-negative breast cancer
A Blomme, B Costanza, P De Tullio, M Thiry, G Van Simaeys, S Boutry, ...
Oncogene 36 (15), 2116-2130, 2017
ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis
BH Koo, C Le Goff, KA Jungers, A Vasanji, J O'Flaherty, CM Weyman, ...
Matrix Biology 26 (6), 431-441, 2007
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
AM McInerney-Leo, C Le Goff, PJ Leo, TJ Kenna, P Keith, JE Harris, ...
Journal of Medical Genetics 53 (7), 457-464, 2016
Myhre and LAPS syndromes: clinical and molecular review of 32 patients
C Michot, C Le Goff, C Mahaut, A Afenjar, AS Brooks, PM Campeau, ...
European Journal of Human Genetics 22 (11), 1272-1277, 2014
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis
M Nizon, C Huber, F De Leonardis, R Merrina, A Forlino, M Fradin, ...
Human mutation 33 (8), 1261-1266, 2012
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
S Allali, C Le Goff, I Pressac–Diebold, G Pfennig, C Mahaut, N Dagoneau, ...
Journal of medical genetics 48 (6), 417-421, 2011
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