A GPHN point mutation leading to molybdenum cofactor deficiency
Reiss, J, Lenz, U, Aquaviva-Bourdain, C, Joriot-Chekaf, S, Mention-Mulliez, K, Holder-Espinasse, M
Published in Clinical genetics (01.12.2011)
Published in Clinical genetics (01.12.2011)
Get full text
Journal Article
Three new cases of asparagine synthetase deficiency: Confirmation of a poor neurological outcome and a new molecular mechanism
Faoucher, M, Putoux, A, Francannet, C, Poulat, A.L, Chatron, N, Aquaviva, C, Labalme, A, Schluth-Bolard, C, Till, M, Saban, C, Desportes, V, Sanlaville, D, Edery, P, Lesca, G
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
Get full text
Journal Article
Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management
Feillet, F, Ogier, H, Cheillan, D, Aquaviva, C, Labarthe, F, Baruteau, J, Chabrol, B, de Lonlay, P, Valayanopoulos, V, Garnotel, R, Dobbelaere, D, Briand, G, Jeannesson, E, Vassault, A, Vianey-Saban, C
Published in Archives de pediatrie : organe officiel de la Societe francaise de pediatrie (01.02.2012)
Published in Archives de pediatrie : organe officiel de la Societe francaise de pediatrie (01.02.2012)
Get full text
Journal Article
Conference Proceeding
Déficit en acyl-CoA-déshydrogénase des acides gras à chaîne moyenne (MCAD) : consensus français pour le dépistage, le diagnostic, et la prise en charge
Feillet, F., Ogier, H., Cheillan, D., Aquaviva, C., Labarthe, F., Baruteau, J., Chabrol, B., de Lonlay, P., Valayanopoulos, V., Garnotel, R., Dobbelaere, D., Briand, G., Jeannesson, E., Vassault, A., Vianey-Saban, C.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2012)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2012)
Get full text
Journal Article
MECP2 is highly mutated in X-linked mental retardation
Couvert, P, Bienvenu, T, Aquaviva, C, Poirier, K, Moraine, C, Gendrot, C, Verloes, A, Andrès, C, Le Fevre, A C, Souville, I, Steffann, J, des Portes, V, Ropers, H H, Yntema, H G, Fryns, J P, Briault, S, Chelly, J, Cherif, B
Published in Human molecular genetics (15.04.2001)
Published in Human molecular genetics (15.04.2001)
Get full text
Journal Article
MECP2 is highly mutated in X-linked mental retardation
COUVERT, Philippe, BIENVENU, Thierry, STEFFANN, Julie, DES PORTES, Vincent, ROPERS, Hans-Hilger, YNTEMA, Helger G, FRYNS, Jean-Pierre, BRIAULT, Sylvain, CHELLY, Jamel, CHERIF, Beldjord, AQUAVIVA, Cecile, POIRIER, Karine, MORA, Claude, GENDROT, Chantal, VERLOES, Alain, ANDRES, Christian, LE FEVRE, Anne Celine, SOUVILLE, Isabelle
Published in Human molecular genetics (15.04.2001)
Published in Human molecular genetics (15.04.2001)
Get full text
Journal Article
Are there multiple proteolytic pathways contributing to c-Fos, c-Jun and p53 protein degradation in vivo?
Salvat, C, Aquaviva, C, Jariel-Encontre, I, Ferrara, P, Pariat, M, Steff, A M, Carillo, S, Piechaczyk, M
Published in Molecular biology reports (01.04.1999)
Published in Molecular biology reports (01.04.1999)
Get full text
Journal Article
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy
Bienvenu, Thierry, Souville, Isabelle, Poirier, Karine, Aquaviva, Cécile, Burglen, Lydie, Amiel, Jeanne, Héron, Bénédicte, Kaminska, Anna, Couvert, Philippe, Beldjord, Cherif, Chelly, Jamel
Published in Human mutation (01.09.2001)
Published in Human mutation (01.09.2001)
Get full text
Journal Article