A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein
Lia-Baldini, A. S., Brun-Heath, I., Carrion, C., Simon-Bouy, B., Serre, J. L., Nunes, M. E., Mornet, E.
Published in Human genetics (01.05.2008)
Published in Human genetics (01.05.2008)
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A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12
Chouery, E., Kfoury, J., Delague, V., Jalkh, N., Bejjani, P., Serre, J. L., Mégarbané, A.
Published in Neurogenetics (01.10.2008)
Published in Neurogenetics (01.10.2008)
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Childhood Hypophosphatasia Due to a de Novo Missense Mutation in the Tissue-Nonspecific Alkaline Phosphatase Gene
Taillandier, A., Sallinen, S.-L., Brun-Heath, I., De Mazancourt, P., Serre, J.-L., Mornet, E.
Published in The journal of clinical endocrinology and metabolism (01.04.2005)
Published in The journal of clinical endocrinology and metabolism (01.04.2005)
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Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene
Spentchian, M., Merrien, Y., Herasse, M., Dobbie, Z., Gläser, D., Holder, S. E., Ivarsson, S-A., Kostiner, D., Mansour, S., Norman, A., Roth, J., Stipoljev, F., Taillemite, J-L., van der Smagt, J. J., Serre, J-L., Simon-Bouy, B., Taillandier, A., Mornet, E.
Published in Human mutation (01.07.2003)
Published in Human mutation (01.07.2003)
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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
Brun-Heath, I, Chabrol, E, Fox, M, Drexler, K, Petit, C, Taillandier, A, De Mazancourt, P, Serre, J-L, Mornet, E
Published in Clinical genetics (01.03.2008)
Published in Clinical genetics (01.03.2008)
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Existence of a genetic risk factor on chromosome 5q in Italian Coeliac Disease families
GRECO, L., BABRON, M. C., CORAZZA, G. R., PERCOPO, S., SICA, R., CLOT, F., FULCHIGNONI-LATAUD, M. C., ZAVATTARI, P., MOMIGLIANO-RICHIARDI, P., CASARI, G., GASPARINI, P., TOSI, R., MANTOVANI, V., DE VIRGILIIS, S., IACONO, G., D'ALFONSO, A., SELINGER-LENEMAN, H., LEMAINQUE, A., SERRE, J. L., CLERGET-DARPOUX, F.
Published in Annals of human genetics (01.01.2001)
Published in Annals of human genetics (01.01.2001)
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A molecular approach to dominance in hypophosphatasia
Lia-Baldini, A S, Muller, F, Taillandier, A, Gibrat, J F, Mouchard, M, Robin, B, Simon-Bouy, B, Serre, J L, Aylsworth, A S, Bieth, E, Delanote, S, Freisinger, P, Hu, J C, Krohn, H P, Nunes, M E, Mornet, E
Published in Human genetics (01.07.2001)
Published in Human genetics (01.07.2001)
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Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia
Mornet, E, Taillandier, A, Peyramaure, S, Kaper, F, Muller, F, Brenner, R, Bussière, P, Freisinger, P, Godard, J, Le Merrer, M, Oury, J F, Plauchu, H, Puddu, R, Rival, J M, Superti-Furga, A, Touraine, R L, Serre, J L, Simon-Bouy, B
Published in European journal of human genetics : EJHG (01.07.1998)
Published in European journal of human genetics : EJHG (01.07.1998)
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Journal Article
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
OUDET, C, MORNET, E, MANDEL, J. L, SERRE, J. L, THOMAS, F, LENTES-ZENGERLING, S, KRETZ, C, DELUCHAT, C, TEJADA, I, BOUE, J, BOUE, A
Published in American journal of human genetics (01.02.1993)
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Published in American journal of human genetics (01.02.1993)
Journal Article
Analysis of Germline Variation at the FMR1 CGG Repeat Shows Variation in the Normal-Premutated Borderline Range
Monet, Etienne, Chateau, Corinne, Hirst, Mark C., Thepot, François, Taillandier, Agnès, Cibois, Olivier, Serre, Jean-Louis
Published in Human molecular genetics (01.06.1996)
Published in Human molecular genetics (01.06.1996)
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Guide to good practices to ensure privacy protection in secondary use of medical records
Riou, C., Fresson, J., Serre, J.L., Avillach, P., Leneveut, L., Quantin, C.
Published in Revue d'épidémiologie et de santé publique (01.06.2014)
Published in Revue d'épidémiologie et de santé publique (01.06.2014)
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Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case
Muller, F, Dommergues, M, Simon-Bouy, B, Ferec, C, Oury, J F, Aubry, M C, Bessis, R, Vuillard, E, Denamur, E, Bienvenu, T, Serre, J L
Published in Journal of medical genetics (01.08.1998)
Published in Journal of medical genetics (01.08.1998)
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Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome
Mornet, E, Chateau, C, Taillandier, A, Simon-Bouy, B, Serre, J L
Published in Human genetics (01.04.1996)
Published in Human genetics (01.04.1996)
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Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics
Serre, J L, Simon-Bouy, B, Mornet, E, Jaume-Roig, B, Balassopoulou, A, Schwartz, M, Taillandier, A, Boué, J, Boué, A
Published in Human genetics (01.04.1990)
Published in Human genetics (01.04.1990)
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Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma
Henry, I, Jeanpierre, M, Couillin, P, Barichard, F, Serre, J L, Journel, H, Lamouroux, A, Turleau, C, de Grouchy, J, Junien, C
Published in Human genetics (01.02.1989)
Published in Human genetics (01.02.1989)
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Study of Two Ectopeptidases in the Susceptibility to Celiac Disease: Two Newly Identified Polymorphisms of Dipeptidylpeptidase IV
Clot, Fabienne, Babron, Marie-Claude, Percopo, Selvaggia, Giordano, Mara, Bouguerra, Faouzi, Clerget-Darpoux, Francoise, Greco, Luigi, Serre, Jean-Louis, Fulchignoni-Lataud, Marie-Claude
Published in Journal of pediatric gastroenterology and nutrition (01.04.2000)
Published in Journal of pediatric gastroenterology and nutrition (01.04.2000)
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The intermediate alleles of the fragile X CGG repeat in patients with mental retardation
Mornet, Etienne, Chateau, Corinne, Simon-Bouy, Brigitte, Serre, Jean-Louis
Published in Clinical genetics (01.03.1998)
Published in Clinical genetics (01.03.1998)
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Journal Article
Correlations of Genotype and Phenotype in Hypophosphatasia
Zurutuza, L., Muller, F., Gibrat, J.F., Taillandier, A., Simon-Bouy, B., Serre, L., Mornet, E.
Published in Human molecular genetics (01.06.1999)
Published in Human molecular genetics (01.06.1999)
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