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Caroline Silve

Showing results (31-40 of 53) with videos related to

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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 3, 2016
Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 AcrodysostosisCatherine Le Stunff, Francoise Tilotta, Jérémy Sadoine, et al.
American Journal of Medical Genetics. Part A|November 18, 2010
Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLHMorag Collinson, Samantha J Leonard, Jocelyn Charlton, et al.
The New England Journal of Medicine|September 27, 2002
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporterDominique Prié, Virginie Huart, Naziha Bakouh, et al.
Hormone Research in Paediatrics|December 26, 2016
Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant RicketsSalma Ben Ameur, Caroline Silve, Imene Chabchoub, et al.
The New England Journal of Medicine|June 10, 2011
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistanceAgnès Linglart, Christine Menguy, Alain Couvineau, et al.
The New England Journal of Medicine|September 12, 2008
NHERF1 mutations and responsiveness of renal parathyroid hormoneZoubida Karim, Bénédicte Gérard, Naziha Bakouh, et al.
Bone|February 16, 2006
Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patientsCatherine Benoist-Lasselin, Emmanuel de Margerie, Linda Gibbs, et al.
Human Mutation|May 8, 2013
Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1bStéphanie Maupetit-Méhouas, Salah Azzi, Virginie Steunou, et al.
European Journal of Human Genetics : EJHG|July 10, 2014
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA studyIntza Garin, Giovanna Mantovani, Urko Aguirre, et al.
The Journal of Clinical Endocrinology and Metabolism|January 16, 2014
Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidismAnne-Sophie Lambert, Virginie Grybek, Bruno Francou, et al.
Pageof 6

Showing results (31-40 of 53) with videos related to

Sort By:
Pageof 6
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 3, 2016
Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 AcrodysostosisCatherine Le Stunff, Francoise Tilotta, Jérémy Sadoine, et al.
American Journal of Medical Genetics. Part A|November 18, 2010
Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLHMorag Collinson, Samantha J Leonard, Jocelyn Charlton, et al.
The New England Journal of Medicine|September 27, 2002
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporterDominique Prié, Virginie Huart, Naziha Bakouh, et al.
Hormone Research in Paediatrics|December 26, 2016
Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant RicketsSalma Ben Ameur, Caroline Silve, Imene Chabchoub, et al.
The New England Journal of Medicine|June 10, 2011
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistanceAgnès Linglart, Christine Menguy, Alain Couvineau, et al.
The New England Journal of Medicine|September 12, 2008
NHERF1 mutations and responsiveness of renal parathyroid hormoneZoubida Karim, Bénédicte Gérard, Naziha Bakouh, et al.
Bone|February 16, 2006
Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patientsCatherine Benoist-Lasselin, Emmanuel de Margerie, Linda Gibbs, et al.
Human Mutation|May 8, 2013
Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1bStéphanie Maupetit-Méhouas, Salah Azzi, Virginie Steunou, et al.
European Journal of Human Genetics : EJHG|July 10, 2014
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA studyIntza Garin, Giovanna Mantovani, Urko Aguirre, et al.
The Journal of Clinical Endocrinology and Metabolism|January 16, 2014
Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidismAnne-Sophie Lambert, Virginie Grybek, Bruno Francou, et al.
Pageof 6