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The sialylation of bronchial mucins secreted by patients suffering from cystic fibrosis or from chronic bronchitis is related to the severity of airway infection

Glycobiology (Oxford), 1999-03, Vol.9 (3), p.311-321

1999

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GUG is an efficient initiation codon to translate the human mitochondrial ATP6 gene

Biochemical and biophysical research communications, 2004-01, Vol.313 (3), p.687-693

2004

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Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

Human mutation, 2001-03, Vol.17 (3), p.235-235

2001

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Human airway mucin glycosylation: a combinatory of carbohydrate determinants which vary in cystic fibrosis

Glycoconjugate journal, 2001-09, Vol.18 (9), p.661-684

2001

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Le syndrome de Pendred : Aspects actuels

La Presse médicale (1983), 2001-11, Vol.30 (34), p.1689-1694

2001

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Correlation between genito‐urinary anomalies, semen analysis and CFTR genotype in patients with congenital bilateral absence of the vas deferens

British Journal of Urology, 1998-04, Vol.81 (4), p.614-619

1998

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Genotypes of cytochrome P450 and clinical response to clomipramine in patients with major depression

European psychiatry, 1995, Vol.10 (8), p.410-412

1995

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Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy

Ophthalmic genetics, 2002, Vol.23 (3), p.167-174

2002

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L'agenesie bilaterale congenitale des deferents a l'heure de l'ICSI

Andrologie (Lille), 1998, Vol.8 (1), p.57-60

1998

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Length variations of the poly(T) tract at the exon 3 splice acceptor site of the choroideremia gene

Genetic counseling, 1998, Vol.9 (4), p.255

1998

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Rapid diagnosis of mitochondrial mutation at position 11778-associated Leber hereditary optic neuropathy

Clinical chemistry (Baltimore, Md.), 1992-07, Vol.38 (7), p.1390

1992

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Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR) : correlation between genotype and phenotype

Human genetics, 1996, Vol.97 (1), p.7-10

1996

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Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (deltaF508/V938G)

Gynécologie, obstétrique & fertilité, 2007-06, Vol.35 (6), p.561-564

2007

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Inhibition of glucocorticoid receptor transformation, subunit dissociation, and temperature-dependent inactivation by various N-substituted maleimides

Biochemistry (Easton), 1988-11, Vol.27 (22), p.8436-8442

1988

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Agénésie déférentielle partielle unilatérale et hétérozygotie composite du gène CFTR (ΔF508/V938G)

Gynécologie, obstétrique & fertilité, 2007-06, Vol.35 (6), p.561-564

2007

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High Frequency of the R117H Cystic Fibrosis Mutation in Patients with Congenital Absence of the Vas Deferens

The New England journal of medicine, 1993-02, Vol.328 (6), p.446-447

1993

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Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens

The Lancet (British edition), 1990-08, Vol.336 (8713), p.512-512

1990

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Unusual segregation of cystic fibrosis allele to males

Nature (London), 1988-05, Vol.333 (6170), p.215-215

1988

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Confirmation of linkage disequilibrium between haplotype B (XV-2c, allele 1; KM-19, allele 2) and cystic fibrosis allele in the French population

Human genetics, 1989, Vol.81 (2), p.183-184

1989

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Sweat chloride and ΔF508 mutation in chronic bronchitis or bronchiectasis

The Lancet (British edition), 1993-10, Vol.342 (8877), p.997-997

1993

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Unusual segregation of cystic fibrosis alleles

Nature (London), 1988-11, Vol.336 (6197), p.316-316

KITZIS, A

1988

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P091 - Syndrome de pendred avec mutation composite chez deux frères avec goiter nodulaire

Annales d'endocrinologie, 2004-09, Vol.65 (4), p.324-325

2004

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Abnormal distribution of cystic fibrosis delta F508 allele in adults with chronic bronchial hypersecretion

The Lancet (British edition), 1990-06, Vol.335 (8701), p.1340-1340

1990

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Pendred's syndrome. Current features

La Presse médicale (1983), 2001-11, Vol.30 (34), p.1689-1694

2001

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The sialylation of bronchial mucins secreted by patients suffering from cystic fibrosis or from chronic bronchitis is related to the severity of airway infection

GUG is an efficient initiation codon to translate the human mitochondrial ATP6 gene

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Human airway mucin glycosylation: a combinatory of carbohydrate determinants which vary in cystic fibrosis

Le syndrome de Pendred : Aspects actuels

Correlation between genito‐urinary anomalies, semen analysis and CFTR genotype in patients with congenital bilateral absence of the vas deferens

Genotypes of cytochrome P450 and clinical response to clomipramine in patients with major depression

Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy

L'agenesie bilaterale congenitale des deferents a l'heure de l'ICSI

Length variations of the poly(T) tract at the exon 3 splice acceptor site of the choroideremia gene

Rapid diagnosis of mitochondrial mutation at position 11778-associated Leber hereditary optic neuropathy

Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR) : correlation between genotype and phenotype

Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (deltaF508/V938G)

Inhibition of glucocorticoid receptor transformation, subunit dissociation, and temperature-dependent inactivation by various N-substituted maleimides

Agénésie déférentielle partielle unilatérale et hétérozygotie composite du gène CFTR (ΔF508/V938G)

High Frequency of the R117H Cystic Fibrosis Mutation in Patients with Congenital Absence of the Vas Deferens

Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens

Unusual segregation of cystic fibrosis allele to males

Confirmation of linkage disequilibrium between haplotype B (XV-2c, allele 1; KM-19, allele 2) and cystic fibrosis allele in the French population

Sweat chloride and ΔF508 mutation in chronic bronchitis or bronchiectasis

Unusual segregation of cystic fibrosis alleles

P091 - Syndrome de pendred avec mutation composite chez deux frères avec goiter nodulaire

Abnormal distribution of cystic fibrosis delta F508 allele in adults with chronic bronchial hypersecretion

Pendred's syndrome. Current features

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