J. Serre

发表

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

S. Mansour, S. Holder, A. Norman, 2003, Human mutation.

Genetic heterogeneity between two clinical forms of cystic fibrosis evidenced by familial analysis and linked DNA probes

F. Muller, J. Boué, A. Boué, 1989, Clinical genetics.

A genetic isolate in the French Pyrenees: probabilities of origin of genes and inbreeding

M. Babron, J. Serre, L. Jakobi, 1985, Journal of Biosocial Science.

Correlations of genotype and phenotype in hypophosphatasia.

J. Gibrat, F. Muller, B. Simon‐Bouy, 1999, Human molecular genetics.

Genetic investigation of mesangial IgA nephropathy.

J. L. le Petit, M. Marcelin, C. Carpenter, 1982, Tissue antigens.

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

R. Brenner, F. Muller, O. Boute, 1999 .

A molecular approach to dominance in hypophosphatasia

J. Gibrat, A. Aylsworth, E. Bieth, 2001, Human Genetics.

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.

E. Girodon, N. Monnier, F. Muller, 2002, American journal of medical genetics.

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

E. Denamur, C. Férec, T. Bienvenu, 1998, Journal of medical genetics.

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

J. Serre, M. Fulchignoni-Lataud, S. Olchwang, 1997, European journal of human genetics : EJHG.

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

R. Hennekam, R. Hennekam, F. Fellmann, 2000, Human mutation.

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

I. Brun-Heath, B. Simon‐Bouy, E. Mornet, 2008, Human Genetics.

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

M. Jager, F. Clot, B. Simon‐Bouy, 1994, Human Genetics.

Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.

E. Chouery, A. Mégarbané, R. Slim, 2001, American journal of medical genetics.

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

M. Schwartz, A. Balassopoulou, J. Boué, 1990, Human Genetics.

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

P. de Mazancourt, I. Brun-Heath, E. Mornet, 2007, Clinical genetics.

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

F. Kaper, A. Superti-Furga, R. Brenner, 1998, European Journal of Human Genetics.

Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.

P. de Mazancourt, I. Brun-Heath, E. Mornet, 2005, The Journal of clinical endocrinology and metabolism.

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

I. Temple, M. Bonduelle, F. Muller, 2001, Human mutation.

Study of two ectopeptidases in the susceptibility to celiac disease: two newly identified polymorphisms of dipeptidylpeptidase IV.

M. Babron, F. Clerget-Darpoux, L. Greco, 2000, Journal of pediatric gastroenterology and nutrition.

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

E. Chouery, A. Mégarbané, V. Delague, 2008, Neurogenetics.

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

S. Virgiliis, A. Lemainque, M. Babron, 2001, Annals of human genetics.

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

M. Babron, F. Clerget-Darpoux, L. Greco, 1999, Tissue antigens.

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.

J. Mandel, C. Kretz, J. Boué, 1993, American journal of human genetics.

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

J. Boué, A. Boué, B. Simon‐Bouy, 1993, European journal of human genetics : EJHG.

GENETIC DIFFERENCES BETWEEN CYSTIC FIBROSIS WITH AND WITHOUT MECONIUM ILEUS

X. Estivill, M. Farrall, R. Williamson, 1988, The Lancet.

Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range.

F. Thépot, E. Mornet, J. Serre, 1996, Human molecular genetics.

Transition from Normal to Premutated Alleles in Fragile X Syndrome Results from a Multistep Process

J. Boué, A. Boué, B. Simon‐Bouy, 1994, European journal of human genetics : EJHG.

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. Mutations in brief no. 217. Online.

R. Brenner, F. Muller, O. Boute, 1999, Human mutation.

Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients

J. Boué, A. Boué, B. Simon‐Bouy, 1991, Clinical genetics.

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.

J. Boué, A. Boué, B. Simon‐Bouy, 1991, Genomics.

The cystic fibrosis ΔF508 mutation in the French population

J. Boué, A. Boué, B. Simon‐Bouy, 1990, Human Genetics.