Search Results - "Strompf, Laurence"

Genetic Testing in Pheochromocytoma or Functional Paraganglioma by AMAR, Laurence, BERTHERAT, Jérome, NICCOLI-SIRE, Patricia, RICHARD, Stéphane, ROHMER, Vincent, SADOUL, Jean-Louis, STROMPF, Laurence, SCHLUMBERGER, Martin, BERTAGNA, Xavier, PLOUIN, Pierre-Francois, JEUNEMAITRE, Xavier, GIMENEZ-ROQUEPLO, Anne-Paule, BAUDIN, Eric, AJZENBERG, Christiane, BRESSAC-DE PAILLERETS, Brigitte, CHABRE, Olivier, CHAMONTIN, Bernard, DELEMER, Brigitte, GIRAUD, Sophie, MURAT, Amaud

“…To assess the yield and the clinical value of systematic screening of susceptibility genes for patients with pheochromocytoma (pheo) or functional…”
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Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency by Favier, Judith, Brière, Jean-Jacques, Strompf, Laurence, Amar, Laurence, Filali, Mounir, Jeunemaitre, Xavier, Rustin, Pierre, Gimenez-Roqueplo, Anne-Paule

“…Mitochondrial complex II, or succinate dehydrogenase, is a key enzymatic complex involved in both the tricarboxylic acid (TCA) cycle and oxidative…”
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Genetic investigation of autosomal recessive distal renal tubular acidosis : Evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene by VARGAS-POUSSOU, Rosa, HOUILLIER, Pascal, ECKART, Philippe, NOVO, Robert, CAILLIEZ, Mathilde, SALOMON, Rémi, NIVET, Hubert, COCHAT, Pierre, TACK, Ivan, FARGEOT, Anne, BOUISSOU, Francois, KESLER, Gwenaelle Roussey, LE POTTIER, Nelly, LOROTTE, Stéphanie, GODEFROID, Nathalie, LAYET, Valérie, MORIN, Gilles, JEUNEMAITRE, Xavier, BLANCHARD, Anne, STROMPF, Laurence, LOIRAT, Chantal, BAUDOUIN, Véronique, MACHER, Marie-Alice, DECHAUX, Michèle, ULINSKI, Tim, NOBILI, Francois

“…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)…”
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Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome by Riveira-Munoz, Eva, Devuyst, Olivier, Belge, Hendrica, Jeck, Nikola, Strompf, Laurence, Vargas-Poussou, Rosa, Jeunemaître, Xavier, Blanchard, Anne, Knoers, Nine V., Konrad, Martin, Dahan, Karin

“…Background. Loss-of-function mutations in SLC12A3 coding for the thiazide-sensitive NaCl cotransporter (NCC) cause Gitelman's syndrome (GS), a recessively…”
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Optimization of an elispot assay to detect cytomegalovirus-specific CD8 + T lymphocytes by Godard, Brigitte, Gazagne, Agnès, Gey, Alain, Baptiste, Muriel, Vingert, Benoit, Pegaz-Fiornet, Beatrice, Strompf, Laurence, Fridman, Wolf H., Glotz, Denis, Tartour, Eric

“…Various arguments suggest that CD8 + T lymphocytes play a major role in the control of cytomegalovirus (CMV) infection. The detection of CMV-specific CD8 + T…”
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Concerning residency, will the entropy end? by Strompf, Laurence, Rouprêt, Morgan

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À propos de l'internat, l'entropie prendra-t-elle fin? by STROMPF, Laurence, ROUPRET, Morgan

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