Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Laurence Strompf"'
Autor:
Rosa Vargas-Poussou, Karin Dahan, Olivier Devuyst, Nine V A M Knoers, Martin Konrad, Hendrica Belge, Xavier Jeunemaitre, Eva Riveira-Munoz, Laurence Strompf, Anne Blanchard, Nikola Jeck
Publikováno v:
Nephrology Dialysis Transplantation; Vol 23
Nephrology, Dialysis, Transplantation, 23, 3120-5
Nephrology, Dialysis, Transplantation, 23, 10, pp. 3120-5
Nephrology Dialysis Transplantation
Nephrology, Dialysis, Transplantation, 23, 3120-5
Nephrology, Dialysis, Transplantation, 23, 10, pp. 3120-5
Nephrology Dialysis Transplantation
Item does not contain fulltext BACKGROUND: Loss-of-function mutations in SLC12A3 coding for the thiazide-sensitive NaCl cotransporter (NCC) cause Gitelman's syndrome (GS), a recessively inherited salt-losing tubulopathy. Most GS patients are compound
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a9e352b96b15aab179bb182aa786eca
https://hdl.handle.net/2066/70333
https://hdl.handle.net/2066/70333
Autor:
Pierre Cochat, Gwenaelle Roussey Kesler, François Nobili, Laurence Strompf, Philippe Eckart, Mathilde Cailliez, Marie-Alice Macher, Robert Novo, Gilles Morin, Valérie Layet, Anne Fargeot, Anne Blanchard, Nathalie Godefroid, Michèle Dechaux, Rémi Salomon, Stéphanie Lorotte, Ivan Tack, Véronique Baudouin, Pascal Houillier, Tim Ulinski, Rosa Vargas-Poussou, Hubert Nivet, Chantal Loirat, Xavier Jeunemaitre, François Bouissou, Nelly Le Pottier
Publikováno v:
Journal of the American Society of Nephrology : JASN. 17(5)
Mutations in the ATP6V1B1 and ATP6V0A4 genes, encoding subunits B1 and 4 of apical H(+) ATPase, cause recessive forms of distal renal tubular acidosis (dRTA). ATP6V1B mutations have been associated with early sensorineural hearing loss (SNHL), wherea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0c72446a82a305160779577f2a0da8f
https://pubmed.ncbi.nlm.nih.gov/16611712
https://pubmed.ncbi.nlm.nih.gov/16611712
Autor:
Stéphane Richard, Anne-Paule Gimenez-Roqueplo, Olivier Chabre, Bernard Chamontin, Brigitte Delemer, Martin Schlumberger, Arnaud Murat, Eric Baudin, Laurence Amar, Brigitte Bressac-de Paillerets, Laurence Strompf, Sophie Giraud, Vincent Rohmer, Jérôme Bertherat, Xavier Bertagna, Xavier Jeunemaitre, Pierre-François Plouin, Jean-Louis Sadoul, Patricia Niccoli-Sire, Christiane Ajzenberg
Publikováno v:
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 23(34)
Purpose To assess the yield and the clinical value of systematic screening of susceptibility genes for patients with pheochromocytoma (pheo) or functional paraganglioma (pgl). Patients and Methods We studied 314 patients with a pheo or a functional p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594a4754a3422a5b4558fcf6a6261bb9
https://pubmed.ncbi.nlm.nih.gov/16314641
https://pubmed.ncbi.nlm.nih.gov/16314641
Autor:
Xavier Jeunemaitre, Mounir Filali, Pierre Rustin, Laurence Amar, Laurence Strompf, Jean-Jacques Brière, Judith Favier, Anne-Paule Gimenez-Roqueplo
Publikováno v:
Hormone research. 63(4)
Mitochondrial complex II, or succinate dehydrogenase, is a key enzymatic complex involved in both the tricarboxylic acid (TCA) cycle and oxidative phosphorylation as part of the mitochondrial respiratory chain. Germline succinate dehydrogenase subuni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3264b018790e873cda6fb36eaad682f2
https://pubmed.ncbi.nlm.nih.gov/15795514
https://pubmed.ncbi.nlm.nih.gov/15795514
Autor:
Laurence, Strompf, Morgan, Rouprêt
Publikováno v:
Presse medicale (Paris, France : 1983). 31(34)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::30c9fd8d6598a1ca71450891099c4446
https://pubmed.ncbi.nlm.nih.gov/12426973
https://pubmed.ncbi.nlm.nih.gov/12426973
Autor:
Eva Riveira-Munoz, Olivier Devuyst, Hendrica Belge, Nikola Jeck, Laurence Strompf, Rosa Vargas-Poussou, Xavier Jeunemaître, Anne Blanchard, Nine V. Knoers, Martin Konrad, Karin Dahan
Publikováno v:
Nephrology Dialysis Transplantation; Oct2008, Vol. 23 Issue 10, p3120-3120, 1p