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Correlations of Genotype and Phenotype in Hypophosphatasia

Human molecular genetics, 1999-06, Vol.8 (6), p.1039-1046

1999

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Guide to good practices to ensure privacy protection in secondary use of medical records

Revue d'épidémiologie et de santé publique, 2014-06, Vol.62 (3), p.207-214

2014

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A molecular approach to dominance in hypophosphatasia

Human genetics, 2001-07, Vol.109 (1), p.99-108

2001

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Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia

Human mutation, 2001-07, Vol.18 (1), p.83-84

2001

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General Cystic Fibrosis Mutations Are Usually Missense Mutations Affecting Two Specific Protein Domains and Associated with a Specific RFLP Marker Haplotype

European journal of human genetics : EJHG, 1993, Vol.1 (4), p.287-295

1993

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Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

Human mutation, 2000-03, Vol.15 (3), p.293-293

2000

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Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes

American journal of human genetics, 1993-02, Vol.52 (2), p.297-304

1993

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Linkage and association study of the CTLA-4 region in coeliac disease for Italian and Tunisian populations

Tissue antigens, 1999-11, Vol.54 (5), p.527-530

1999

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Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics

Human genetics, 1990-04, Vol.84 (5), p.449-454

1990

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The Fragile X CGG Repeat Shows a Marked Level of Instability in Hereditary Non-Polyposis Colorectal Cancer Patients

European journal of human genetics : EJHG, 1997-03, Vol.5 (2), p.89-93

1997

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Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia: Mutations in Brief

Human mutation, 2001-07, Vol.18 (1), p.83-84

2001

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Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia

Human mutation, 1999, Vol.13 (2), p.171-172

1999

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GENETIC DIFFERENCES BETWEEN CYSTIC FIBROSIS WITH AND WITHOUT MECONIUM ILEUS

The Lancet (British edition), 1988-02, Vol.331 (8582), p.376-378

1988

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A polymorphic poly-A sequence in the 5? region of the aldosynthase (CYP11B2) gene may be useful in genetic diagnosis of 11?-hydroxylase genes defects

Human genetics, 1994-09, Vol.94 (3)

1994

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Nearly 80% of cystic fibrosis heterozygotes and 64% of couples at risk may be detected through a unique screening of four mutations by ASO reverse dot blot

Genomics (San Diego, Calif.), 1991-12, Vol.11 (4), p.1149-1151

1991

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Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: Results of a French molecular collaborative study based on 641 prospective cases

American journal of medical genetics, 2002-06, Vol.110 (2), p.109-115

2002

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Transition from normal to premutated alleles in fragile X syndrome results from a multistep process

European journal of human genetics : EJHG, 1994, Vol.2 (2), p.125-131

1994

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Social blending and genetical blending

Journal of human evolution, 1979, Vol.8 (8), p.789-793

1979

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Polymorphism and genetic evolution in an isolate in the Antilles: Saint-Barthélémy

Annals of human biology, 1985-01, Vol.12 (5), p.413-419

1985

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A study of genetic markers of the blood in four Central African population groups

Human heredity, 1982, Vol.32 (6), p.418

1982

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Analyse génétique d'une population présentant des anomalies de fréquence génique

Revue française de transfusion et immunohématologie, 1978, Vol.21 (4), p.921-933

1978

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Esophageal cancer - French intergroup clinical practice guidelines for diagnosis, treatments and follow-up (TNCD, SNFGE, FFCD, GERCOR, UNICANCER, SFCD, SFED, SFRO, ACHBT, SFP, RENAPE, SNFCP, AFEF, SFR)

Digestive and liver disease, 2023-12, Vol.55 (12), p.1583-1601

2023

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Salmonella Induces a Switched Antibody Response without Germinal Centers That Impedes the Extracellular Spread of Infection

Journal of Immunology, 2007-05, Vol.178 (10), p.6200-6207

2007

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Facteurs pronostiques des myocardites induites par les inhibiteurs du checkpoint immunologique

La revue de medecine interne, 2021-06, Vol.42, p.A43-A44

2021

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Correlations of Genotype and Phenotype in Hypophosphatasia

Guide to good practices to ensure privacy protection in secondary use of medical records

A molecular approach to dominance in hypophosphatasia

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia

General Cystic Fibrosis Mutations Are Usually Missense Mutations Affecting Two Specific Protein Domains and Associated with a Specific RFLP Marker Haplotype

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes

Linkage and association study of the CTLA-4 region in coeliac disease for Italian and Tunisian populations

Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics

The Fragile X CGG Repeat Shows a Marked Level of Instability in Hereditary Non-Polyposis Colorectal Cancer Patients

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia: Mutations in Brief

Twelve novel mutations (Y11C, A34V, R54H, R135H, N194D, G203V, E218G, D277Y, F310G, 998-1T, A382S, V406A) in the tissue-non specific alkaline phosphatase (TNSALP) gene in patients with various forms of Hypophosphatasia

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia

GENETIC DIFFERENCES BETWEEN CYSTIC FIBROSIS WITH AND WITHOUT MECONIUM ILEUS

A polymorphic poly-A sequence in the 5? region of the aldosynthase (CYP11B2) gene may be useful in genetic diagnosis of 11?-hydroxylase genes defects

Nearly 80% of cystic fibrosis heterozygotes and 64% of couples at risk may be detected through a unique screening of four mutations by ASO reverse dot blot

Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: Results of a French molecular collaborative study based on 641 prospective cases

Transition from normal to premutated alleles in fragile X syndrome results from a multistep process

Social blending and genetical blending

Polymorphism and genetic evolution in an isolate in the Antilles: Saint-Barthélémy

A study of genetic markers of the blood in four Central African population groups

Analyse génétique d'une population présentant des anomalies de fréquence génique

Esophageal cancer - French intergroup clinical practice guidelines for diagnosis, treatments and follow-up (TNCD, SNFGE, FFCD, GERCOR, UNICANCER, SFCD, SFED, SFRO, ACHBT, SFP, RENAPE, SNFCP, AFEF, SFR)

Salmonella Induces a Switched Antibody Response without Germinal Centers That Impedes the Extracellular Spread of Infection

Facteurs pronostiques des myocardites induites par les inhibiteurs du checkpoint immunologique

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