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A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein

Human genetics, 2008-05, Vol.123 (4), p.429-432

2008

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A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12

Neurogenetics, 2008-10, Vol.9 (4), p.287-293

2008

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Childhood Hypophosphatasia Due to a de Novo Missense Mutation in the Tissue-Nonspecific Alkaline Phosphatase Gene

The journal of clinical endocrinology and metabolism, 2005-04, Vol.90 (4), p.2436-2439

2005

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Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene

Human mutation, 2003-07, Vol.22 (1), p.105-106

2003

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A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene

Clinical genetics, 2008-03, Vol.73 (3), p.245-250

2008

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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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Existence of a genetic risk factor on chromosome 5q in Italian Coeliac Disease families

Annals of human genetics, 2001-01, Vol.65 (1), p.35-41

2001

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Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

Human genetics, 1997-10, Vol.100 (5-6), p.512-514

1997

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Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

European journal of human genetics : EJHG, 1998-07, Vol.6 (4), p.308-314

1998

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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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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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Correlations of Genotype and Phenotype in Hypophosphatasia

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

1999

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Analysis of Germline Variation at the FMR1 CGG Repeat Shows Variation in the Normal-Premutated Borderline Range

Human molecular genetics, 1996-06, Vol.5 (6), p.821-825

1996

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Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype–phenotype correlations

Molecular genetics and metabolism, 2005-03, Vol.84 (3), p.273-277

2005

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Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case

Journal of medical genetics, 1998-08, Vol.35 (8), p.657-660

1998

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Genome Search in Celiac Disease

American journal of human genetics, 1998-03, Vol.62 (3), p.669-675

1998

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Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome

Human genetics, 1996-04, Vol.97 (4), p.512-515

1996

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Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma

Human genetics, 1989-02, Vol.81 (3), p.273-277

1989

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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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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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The intermediate alleles of the fragile X CGG repeat in patients with mental retardation

Clinical genetics, 1998-03, Vol.53 (3), p.200-201

1998

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Study of Two Ectopeptidases in the Susceptibility to Celiac Disease: Two Newly Identified Polymorphisms of Dipeptidylpeptidase IV

Journal of pediatric gastroenterology and nutrition, 2000-04, Vol.30 (4), p.464-466

2000

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Le diagnostic prénatal n’est pas de l’eugénisme

Gynécologie, obstétrique & fertilité, 2015-04, Vol.43 (4), p.263-265

2015

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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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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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A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein

A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12

Childhood Hypophosphatasia Due to a de Novo Missense Mutation in the Tissue-Nonspecific Alkaline Phosphatase Gene

Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene

A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene

A molecular approach to dominance in hypophosphatasia

Existence of a genetic risk factor on chromosome 5q in Italian Coeliac Disease families

Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

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

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

Correlations of Genotype and Phenotype in Hypophosphatasia

Analysis of Germline Variation at the FMR1 CGG Repeat Shows Variation in the Normal-Premutated Borderline Range

Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype–phenotype correlations

Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case

Genome Search in Celiac Disease

Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome

Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma

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

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

The intermediate alleles of the fragile X CGG repeat in patients with mental retardation

Study of Two Ectopeptidases in the Susceptibility to Celiac Disease: Two Newly Identified Polymorphisms of Dipeptidylpeptidase IV

Le diagnostic prénatal n’est pas de l’eugénisme

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

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

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