-
1
-
-
0027468406
-
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria
-
Abadie, V., J. Jaruzelska, S. Lyonnet et al. 1993. Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria. Hum. Mol. Genet. 2(1):31-34.
-
(1993)
Hum. Mol. Genet.
, vol.2
, Issue.1
, pp. 31-34
-
-
Abadie, V.1
Jaruzelska, J.2
Lyonnet, S.3
-
2
-
-
1842665159
-
Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms
-
Audrezet, M. P., J. M. Chen, O. Raguenes et al. 2004. Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms. Hum. Mutat. 23(4):343-357.
-
(2004)
Hum. Mutat.
, vol.23
, Issue.4
, pp. 343-357
-
-
Audrezet, M.P.1
Chen, J.M.2
Raguenes, O.3
-
3
-
-
0029042926
-
Mutation heterogeneity of cystic fibrosis in France: Screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide
-
Bienvenu, T., C. Cazeneuve, J. C. Kaplan et al. 1995. Mutation heterogeneity of cystic fibrosis in France: Screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide. Hum. Mutat. 6(1):23-29.
-
(1995)
Hum. Mutat.
, vol.6
, Issue.1
, pp. 23-29
-
-
Bienvenu, T.1
Cazeneuve, C.2
Kaplan, J.C.3
-
4
-
-
0028228036
-
Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene
-
Bienvenu, T., D. Hubert, N. Fonknechten et al. 1994. Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene. Hum. Genet. 94(1):65-68.
-
(1994)
Hum. Genet.
, vol.94
, Issue.1
, pp. 65-68
-
-
Bienvenu, T.1
Hubert, D.2
Fonknechten, N.3
-
5
-
-
0031795463
-
Detection of more than 91% cystic fibrosis mutations in a sample of the population from Réunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L)
-
Cartault, F., J. Steffann D. Vidaud et al. 1998. Detection of more than 91% cystic fibrosis mutations in a sample of the population from Réunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L). Clin. Genet. 54(5):437-439.
-
(1998)
Clin. Genet.
, vol.54
, Issue.5
, pp. 437-439
-
-
Cartault, F.1
Steffann, J.2
Vidaud, D.3
-
6
-
-
0028059688
-
A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin
-
Cheadle, J. P., E. Belloni, M. Ferrari et al. 1994. A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin. Hum. Mol. Genet. 3(8):1431-1432.
-
(1994)
Hum. Mol. Genet.
, vol.3
, Issue.8
, pp. 1431-1432
-
-
Cheadle, J.P.1
Belloni, E.2
Ferrari, M.3
-
7
-
-
0027234275
-
Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 Different mutations account for 91.2% of the mutant alleles in southern France
-
Claustres, M., M. Laussel M. Desgeorges et al. 1993. Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France. Hum. Mol. Genet. 2(8):1209-1213.
-
(1993)
Hum. Mol. Genet.
, vol.2
, Issue.8
, pp. 1209-1213
-
-
Claustres, M.1
Laussel, M.2
Desgeorges, M.3
-
8
-
-
1842339924
-
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
-
Dork, T., B. Dworniczak, C. Aulehla-Scholz et al. 1997. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum. Genet. 100(3-4):365-377.
-
(1997)
Hum. Genet.
, vol.100
, Issue.3-4
, pp. 365-377
-
-
Dork, T.1
Dworniczak, B.2
Aulehla-Scholz, C.3
-
9
-
-
0942266377
-
Neonatal screening for cystic fibrosis: France rises to the challenge
-
Farriaux, J. P., M. Vidailhet, M. L. Briard et al. 2003. Neonatal screening for cystic fibrosis: France rises to the challenge. J. Inherit. Metab. Dis. 26(8):729-744.
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, Issue.8
, pp. 729-744
-
-
Farriaux, J.P.1
Vidailhet, M.2
Briard, M.L.3
-
10
-
-
0034972954
-
Genetic testing for cystic fibrosis: Evaluation of the Elucigene CF20 kit in blood and buccal cells
-
Feldmann, D., C. Guittard, M. D. Georges et al. 2001. Genetic testing for cystic fibrosis: Evaluation of the Elucigene CF20 kit in blood and buccal cells. Ann. Biol. Clin. (Paris) 59(3):277-283.
-
(2001)
Ann. Biol. Clin. (Paris)
, vol.59
, Issue.3
, pp. 277-283
-
-
Feldmann, D.1
Guittard, C.2
Georges, M.D.3
-
11
-
-
0029797823
-
Mutation characterization of CFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for approximately 94% of CF chromosomes
-
Hughes, D. J., A. J. Hill, M. Macek Jr. et al. 1996. Mutation characterization of CFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for approximately 94% of CF chromosomes. Hum. Mutat. 8(4):340-347.
-
(1996)
Hum. Mutat.
, vol.8
, Issue.4
, pp. 340-347
-
-
Hughes, D.J.1
Hill, A.J.2
Macek Jr., M.3
-
12
-
-
16944366526
-
Identification of common cystic fibrosis mutations in African Americans with cystic fibrosis increases the detection rate to 75%
-
Macek, M., Jr., A. Mackova, A. Hamosh et al. 1997. Identification of common cystic fibrosis mutations in African Americans with cystic fibrosis increases the detection rate to 75%. Am. J. Hum. Genet. 60(5):1122-1127.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, Issue.5
, pp. 1122-1127
-
-
Macek Jr., M.1
Mackova, A.2
Hamosh, A.3
-
13
-
-
85196587924
-
Programme national de dépistage de la mucoviscidose: Mise en place et résultats préliminaires
-
Navarro, J., C. Grosskopf, M. Vidailhet et al. 2003. Programme national de dépistage de la mucoviscidose: Mise en place et résultats préliminaires. J. Gynecol. Obstet. Biol. Reprod. 32(suppl. 1):1556-1560.
-
(2003)
J. Gynecol. Obstet. Biol. Reprod.
, vol.32
, Issue.SUPPL. 1
, pp. 1556-1560
-
-
Navarro, J.1
Grosskopf, C.2
Vidailhet, M.3
-
14
-
-
0036195225
-
DHPLC screening of cystic fibrosis gene mutations
-
Ravnik-Glavac, M., A. Atkinson, D. Glavac et al. 2002. DHPLC screening of cystic fibrosis gene mutations. Hum. Mutat. 19(4):374-383.
-
(2002)
Hum. Mutat.
, vol.19
, Issue.4
, pp. 374-383
-
-
Ravnik-Glavac, M.1
Atkinson, A.2
Glavac, D.3
-
15
-
-
0031060651
-
Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations
-
Tzetis, M., E. Kanavakis, T. Antoniadi et al. 1997. Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations. Hum. Genet. 99(1):121-125.
-
(1997)
Hum. Genet.
, vol.99
, Issue.1
, pp. 121-125
-
-
Tzetis, M.1
Kanavakis, E.2
Antoniadi, T.3
-
16
-
-
0024592813
-
Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene
-
Wong, C., S. E. Antonarakis, S. C. Goff et al. 1989. Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene. Blood 73(4):914-918.
-
(1989)
Blood
, vol.73
, Issue.4
, pp. 914-918
-
-
Wong, C.1
Antonarakis, S.E.2
Goff, S.C.3
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