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Results:
1-8
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Results: 8
Molecular basis of Mucopolysaccharidosis type II in Portugal: identification of four novel mutations
Authors:
da Silva, IM
Froissart, R
dos Santos, HM
Caseiro, C
Maire, I
Bozon, D
Citation: Im. Da Silva et al., Molecular basis of Mucopolysaccharidosis type II in Portugal: identification of four novel mutations, CLIN GENET, 60(4), 2001, pp. 316-318
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence ofthe vas deferens in France
Authors:
Claustres, M
Guittard, C
Bozon, D
Chevalier, F
Verlingue, C
Ferec, C
Girodon, E
Cazeneuve, C
Bienvenu, T
Lalau, G
Dumur, V
Feldmann, D
Bieth, E
Blayau, M
Clavel, C
Creveaux, I
Malinge, MC
Monnier, N
Malzac, P
Mittre, H
Chomel, JC
Bonnefont, JP
Iron, A
Chery, M
Des Georges, M
Citation: M. Claustres et al., Spectrum of CFTR mutations in cystic fibrosis and in congenital absence ofthe vas deferens in France, HUM MUTAT, 16(2), 2000, pp. 143-156
Authors:
Dork, T
Macek, M
Mekus, F
Tummler, B
Tzountzouris, J
Casals, T
Krebsova, A
Koudova, M
Sakmaryova, I
Macek, M
Vavrova, V
Zemkova, D
Ginter, E
Petrova, NV
Ivaschenko, T
Baranov, V
Witt, M
Pogorzelski, A
Bal, J
Zekanowsky, C
Wagner, K
Stuhrmann, M
Bauer, I
Seydewitz, HH
Neumann, T
Jakubiczka, S
Kraus, C
Thamm, B
Nechiporenko, M
Livshits, L
Mosse, N
Tsukerman, G
Kadasi, L
Ravnik-Glavac, M
Glavac, D
Komel, R
Vouk, K
Kucinskas, V
Krumina, A
Teder, M
Kocheva, S
Efremov, GD
Onay, T
Kirdar, B
Malone, G
Schwarz, M
Zhou, ZQ
Friedman, KJ
Carles, S
Claustres, M
Bozon, D
Verlingue, C
Ferec, C
Tzetis, M
Kanavakis, E
Cuppens, H
Bombieri, C
Pignatti, PF
Sangiuolo, F
Jordanova, A
Kusic, J
Radojkovic, D
Sertic, J
Richter, D
Rukavina, AS
Bjorck, E
Strandvik, B
Cardoso, H
Montgomery, M
Nakielna, B
Hughes, D
Estivill, X
Aznarez, I
Tullis, E
Tsui, LC
Zielenski, J
Citation: T. Dork et al., Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe, HUM GENET, 106(3), 2000, pp. 259-268
Authors:
Mourad-Terzian, T
Steghens, JP
Min, KL
Collombel, C
Bozon, D
Citation: T. Mourad-terzian et al., Creatine kinase isoenzymes specificities: histidine 65 in human CK-BB, a role in protein stability, not in catalysis, FEBS LETTER, 475(1), 2000, pp. 22-26
Authors:
Romey, MC
Guittard, C
Chazalette, JP
Frossard, P
Dawson, KP
Patton, MA
Casals, T
Bazarbachi, T
Girodon, E
Rault, G
Bozon, D
Seguret, F
Demaille, J
Claustres, M
Citation: Mc. Romey et al., Complex allele [-102T > A+S549R(T > G)] is associated with milder forms ofcystic fibrosis than allele S549R[T > G) alone, HUM GENET, 105(1-2), 1999, pp. 145-150
Authors:
Cochat, P
Gaulier, JM
Nogueira, PCK
Feber, J
Jamieson, NV
Rolland, MO
Divry, P
Bozon, D
Dubourg, L
Citation: P. Cochat et al., Combined liver kidney transplantation in primary hyperoxaluria type 1, EUR J PED, 158, 1999, pp. S75-S80
Authors:
Cudry, S
Froissart, R
Bouton, O
Maire, I
Bozon, D
Citation: S. Cudry et al., The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by different polyadenylation signals, BBA-GENE ST, 1447(1), 1999, pp. 35-42
Authors:
Des Georges, M
Guittard, C
Bozon, D
Chevalier, F
Verlingue, C
Ferec, C
Girodon, E
Cazeneuve, C
Bienvenu, T
Lalau, G
Dumur, V
Feldmann, D
Bieth, E
Blayau, M
Clavel, C
Creveaux, I
Malinge, MC
Monnier, N
Malzac, P
Mittre, H
Bonnefont, JP
Iron, A
Chomel, JC
Chery, M
Claustres, M
Citation: M. Des Georges et al., Molecular basis of cystic fibrosis in France: more than 300 different mutations and 506 genotypes are involved, M S-MED SCI, 14(12), 1998, pp. 1413-1421
Risultati:
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