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Jean-Louis Serre

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Physiology

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France

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Eliane Chouery; Valérie Delague; Nadine Jalkh; Nabiha Salem; Jessy Kfoury; Diana Rodriguez; Brigitte Chabrol; Odile Boespflug-Tanguy; Nicolas Lévy; Jean-Louis Serre; André Mégarbané
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.
Delphine Fauvert; Isabelle Brun-Heath; Anne-Sophie Lia-Baldini; Linda Bellazi; Agnès Taillandier; Jean-Louis Serre; Philippe de Mazancourt; Etienne Mornet
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
Eliane Chouery; J Kfoury; Valérie Delague; Nadine Jalkh; P Bejjani; Jean-Louis Serre; André Mégarbané
A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12.

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All Publications

2011: Eliane Chouery; Valérie Delague; Nadine Jalkh; Nabiha Salem; Jessy Kfoury; Diana Rodriguez; Brigitte Chabrol; Odile Boespflug-Tanguy; Nicolas Lévy; Jean-Louis Serre; André Mégarbané
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.
Neurogenetics 2011;12(1):73-8.
2009: Delphine Fauvert; Isabelle Brun-Heath; Anne-Sophie Lia-Baldini; Linda Bellazi; Agnès Taillandier; Jean-Louis Serre; Philippe de Mazancourt; Etienne Mornet
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
BMC medical genetics 2009;10():51.
2008: Eliane Chouery; J Kfoury; Valérie Delague; Nadine Jalkh; P Bejjani; Jean-Louis Serre; André Mégarbané
A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12.
Neurogenetics 2008;9(4):287-93.
2008: Isabelle Brun-Heath; E Chabrol; M Fox; K Drexler; C Petit; Agnès Taillandier; P De Mazancourt; Jean-Louis Serre; Etienne Mornet
A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene.
Clinical genetics 2008;73(3):245-50.
2008: Nadine Jalkh; Emmanuelle Génin; Eliane Chouery; Valérie Delague; Myrna Medlej-Hashim; Charles-Antoine Idrac; André Mégarbané; Jean-Louis Serre
Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.
Annals of human genetics 2008;72(Pt 1):41-7.
2007: Isabelle Brun-Heath; Anne-Sophie Lia-Baldini; Stéphane Maillard; Agnès Taillandier; Boris Utsch; Mark E Nunes; Jean-Louis Serre; Etienne Mornet
Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.
European journal of medical genetics 2007;50(5):367-78.
2007: Jean-Louis Serre
[Various topics in population genetics].
Presse médicale (Paris, France : 1983) 2007;36 Spec No 1():1S26-31.
2006: Marc Spentchian; Isabelle Brun-Heath; Agnès Taillandier; Delphine Fauvert; Jean-Louis Serre; Brigitte Simon-Bouy; Filipa Carvalho; Ilga Grochova; Sarju G Mehta; Grit Müller; Saskia Lesnik Oberstein; Gonul Ogur; Saba Sharif; Etienne Mornet
Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.
Genetic testing 2006;10(4):252-7.
2005: Myrna Medlej-Hashim; Jean-Louis Serre; Sandra Corbani; Odile Saab; Nadine Jalkh; Valérie Delague; Eliane Chouery; Nabiha Salem; Jacques Loiselet; Gérard Lefranc; André Mégarbané
Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.
European journal of medical genetics 2005;48(4):412-20.
2005: Agnès Taillandier; S-L Sallinen; Isabelle Brun-Heath; P De Mazancourt; Jean-Louis Serre; Etienne Mornet
Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.
The Journal of clinical endocrinology and metabolism 2005;90(4):2436-9.
2005: Isabelle Brun-Heath; Agnès Taillandier; Jean-Louis Serre; Etienne Mornet
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;84(3):273-7.
2003: Marc Spentchian; Y Merrien; M Herasse; Z Dobbie; D Gläser; S E Holder; S-A Ivarsson; D Kostiner; S Mansour; A Norman; J Roth; F Stipoljev; J-L Taillemite; J J van der Smagt; Jean-Louis Serre; Brigitte Simon-Bouy; Agnès Taillandier; Etienne Mornet
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
Human mutation 2003;22(1):105-6.
2003: Jean-Louis Serre; JOSUE FEINGOLD; Brigitte Simon-Bouy; Françoise Muller
[Towards an improved antenatal screening for cystic fibrosis].
Revue d'épidémiologie et de santé publique 2003;51(2):245-53.
2002: Françoise Muller; Brigitte Simon-Bouy; Emmanuelle Girodon; Nicole Monnier; Marie-Claire Malinge; Jean-Louis Serre
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;110(2):109-15.
2001: Myrna Medlej-Hashim; Isabelle Petit; Salim M Adib; Eliane Chouery; Nabiha Salem; Valérie Delague; Mohammed Rawashdeh; Issam Mansour; Gérard Lefranc; Roger Naman; Jacques Loiselet; Jean-Claude Lecron; Jean-Louis Serre; André Mégarbané
Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations.
European journal of human genetics : EJHG 2001;9(11):849-54.
2001: Anne-Sophie Lia-Baldini; Françoise Muller; Agnès Taillandier; JF Gibrat; M Mouchard; B Robin; Brigitte Simon-Bouy; Jean-Louis Serre; Arthur S Aylsworth; E Bieth; S Delanote; Peter Freisinger; J C Hu; H P Krohn; M E Nunes; Etienne Mornet
A molecular approach to dominance in hypophosphatasia.
Human genetics 2001;109(1):99-108.
2001: André Mégarbané; N Waked; Eliane Chouery; YB Moglabey; N Saliba; Etienne Mornet; Jean-Louis Serre; Rima Slim
Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.
American journal of medical genetics 2001;98(3):244-9.
2001: Agnès Taillandier; Anne-Sophie Lia-Baldini; M Mouchard; B Robin; Françoise Muller; Brigitte Simon-Bouy; Jean-Louis Serre; A Bera-Louville; M Bonduelle; J Eckhardt; D Gaillard; A G Myhre; S Körtge-Jung; L Larget-Piet; E Malou; D Sillence; I K Temple; Géraldine Viot; Etienne Mornet
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
Human mutation 2001;18(1):83-4.
2001: Luigi Greco; Marie-Claude Babron; G R Corazza; Selvaggia Percopo; R Sica; Fabienne Clot; MC Fulchignoni-Lataud; Patrizia Zavattari; Patricia Momigliano-Richiardi; Giorgio Casari; Paolo Gasparini; Roberto Tosi; V Mantovani; Stefano De Virgiliis; Giuseppe Iacono; A D'Alfonso; Hana Selinger-Leneman; Arnaud Lemainque; Jean-Louis Serre; Françoise Clerget-Darpoux
Existence of a genetic risk factor on chromosome 5q in Italian coeliac disease families.
Annals of human genetics 2001;65(Pt 1):35-41.
2000: Fabienne Clot; Marie-Claude Babron; Selvaggia Percopo; Mara Giordano; F Bouguerra; Françoise Clerget-Darpoux; Luigi Greco; Jean-Louis Serre; MC Fulchignoni-Lataud
Study of two ectopeptidases in the susceptibility to celiac disease: two newly identified polymorphisms of dipeptidylpeptidase IV.
Journal of pediatric gastroenterology and nutrition 2000;30(4):464-6.
2000: Agnès Taillandier; E Cozien; Françoise Muller; Y Merrien; E Bonnin; C Fribourg; Brigitte Simon-Bouy; Jean-Louis Serre; E Bieth; R Brenner; M P Cordier; S De Bie; Florence Fellmann; Peter Freisinger; V Hesse; Raoul Hennekam; D Josifova; L Kerzin-Storrar; N Leporrier; M T Zabot; Etienne Mornet
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;15(3):293.
1999: Fabienne Clot; MC Fulchignoni-Lataud; C Renoux; Selvaggia Percopo; F Bouguerra; Marie-Claude Babron; Idriss Djilali-Saiah; Sophie Caillat-Zucman; Françoise Clerget-Darpoux; Luigi Greco; Jean-Louis Serre
Linkage and association study of the CTLA-4 region in coeliac disease for Italian and Tunisian populations.
Tissue antigens 1999;54(5):527-30.
1999: L Zurutuza; Françoise Muller; JF Gibrat; Agnès Taillandier; Brigitte Simon-Bouy; Jean-Louis Serre; Etienne Mornet
Correlations of genotype and phenotype in hypophosphatasia.
Human molecular genetics 1999;8(6):1039-46.
1999: Agnès Taillandier; L Zurutuza; Françoise Muller; Brigitte Simon-Bouy; Jean-Louis Serre; L Bird; R Brenner; Odile Boute; J Cousin; D Gaillard; P H Heidemann; B Steinmann; M Wallot; Etienne Mornet
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.
Human mutation 1999;13(2):171-2.
1998: Françoise Muller; M Dommergues; Brigitte Simon-Bouy; Claude Ferec; J F Oury; M C Aubry; R Bessis; Edith Vuillard; E Denamur; T Bienvenu; Jean-Louis Serre
Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.
Journal of medical genetics 1998;35(8):657-60.
1998: Etienne Mornet; Agnès Taillandier; S Peyramaure; F Kaper; Françoise Muller; R Brenner; P Bussière; Peter Freisinger; J Godard; M Le Merrer; J F Oury; H Plauchu; R Puddu; J M Rival; andrea superti-furga; Renaud Touraine; Jean-Louis Serre; Brigitte Simon-Bouy
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;6(4):308-14.
1998: Etienne Mornet; C Chateau; Brigitte Simon-Bouy; Jean-Louis Serre
The intermediate alleles of the fragile X CGG repeat in patients with mental retardation.
Clinical genetics 1998;53(3):200-1.
1997: Etienne Mornet; Françoise Muller; A Lenvoisé-Furet; A L Delezoide; Jean-Yves Col; Brigitte Simon-Bouy; Jean-Louis Serre
Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects.
Human genetics 1997;100(5-6):512-4.
1997: MC Fulchignoni-Lataud; S Olchwang; Jean-Louis Serre
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;5(2):89-93.
1996: Etienne Mornet; C Chateau; Mark Hirst; F Thepot; Agnès Taillandier; O Cibois; Jean-Louis Serre
Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range.
Human molecular genetics 1996;5(6):821-5.
1996: Etienne Mornet; C Chateau; Agnès Taillandier; Brigitte Simon-Bouy; Jean-Louis Serre
Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome.
Human genetics 1996;97(4):512-5.
1995: B Barbat; A Bogyo; M C Raux-Demay; F Kuttenn; J Boué; Brigitte Simon-Bouy; Jean-Louis Serre; Etienne Mornet
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
Human mutation 1995;5(2):126-30.
1994: Fabienne Clot; M Jager; Brigitte Simon-Bouy; Jean-Louis Serre; B Aupetit-Faisant; Etienne Mornet
A polymorphic poly-A sequence in the 5' region of the aldosynthase (CYP11B2) gene may be useful in genetic diagnosis of 11 beta-hydroxylase genes defects.
Human genetics 1994;94(3):316-7.
1994: Etienne Mornet; C Chateau; Agnès Taillandier; M Montagnon; Brigitte Simon-Bouy; Jean-Louis Serre; A Boué
FRAXAC2 instability.
Nature genetics 1994;7(2):122-3.
1994: M Montagnon; A Bogyo; C Deluchat; M Jokic; C Chateau; Agnès Taillandier; F Thomas; Brigitte Simon-Bouy; J Boué; Jean-Louis Serre
Transition from normal to premutated alleles in fragile X syndrome results from a multistep process.
European journal of human genetics : EJHG 1994;2(2):125-31.
1993: Claudine Oudet; Etienne Mornet; Jean-Louis Serre; F Thomas; S Lentes-Zengerling; Christine Kretz; C Deluchat; I Tejada; J Boué; A Boué
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;52(2):297-304.
1993: Jean-Louis Serre; Etienne Mornet; Brigitte Simon-Bouy; J Boué; A Boué
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;1(4):287-95.
1991: Jean-Louis Serre; Agnès Taillandier; Etienne Mornet; Brigitte Simon-Bouy; J Boué; A Boué
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 1991;11(4):1149-51.
1991: Brigitte Simon-Bouy; Etienne Mornet; Jean-Louis Serre; Agnès Taillandier; J Boué; A Boué
Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients.
Clinical genetics 1991;40(3):218-24.
1991: Brigitte Simon-Bouy; Etienne Mornet; Agnès Taillandier; Jean-Louis Serre; J Boue; A Boue
The delta F508 mutation in mild adult forms of cystic fibrosis (CF).
Clinical genetics 1991;39(4):304-5.
1990: Brigitte Simon-Bouy; Etienne Mornet; Jean-Louis Serre; Agnès Taillandier; J Boué; A Boué
The cystic fibrosis delta F508 mutation in the French population.
Human genetics 1990;85(4):431-2.
1990: B Jaume-Roig; Brigitte Simon-Bouy; Agnès Taillandier; Jean-Louis Serre; J Antich; J Bellon; J Boué; A Boué
Genotyping of the Spanish cystic fibrosis population at the delta F508 mutation site and RFLP linked loci.
Human genetics 1990;85(4):410-1.
1990: Jean-Louis Serre; Brigitte Simon-Bouy; Etienne Mornet; B Jaume-Roig; A Balassopoulou; M Schwartz; Agnès Taillandier; J Boué; A Boué
Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics.
Human genetics 1990;84(5):449-54.
1989: Brigitte Simon-Bouy; Jean-Louis Serre; Etienne Mornet; A Tallandier; J Boué; A Boué
Genetic differences between cystic fibrosis with and without meconium ileus.
Lancet 1989;2(8654):102.
1989: Etienne Mornet; Brigitte Simon-Bouy; Jean-Louis Serre; Françoise Muller; Agnès Taillandier; M Martinez; J Boue; A Boue
Genetic heterogeneity between two clinical forms of cystic fibrosis evidenced by familial analysis and linked DNA probes.
Clinical genetics 1989;35(2):81-7.
1988: Etienne Mornet; Brigitte Simon-Bouy; Jean-Louis Serre; X Estivill; M Farrall; R Williamson; J Boue; A Boue
Genetic differences between cystic fibrosis with and without meconium ileus.
Lancet 1988;1(8582):376-8.
1987: Jean-Louis Serre; J Séger; S Lanset; Marie-Claude Babron; V Goulet; J Benoist; E Bois
Studies on an isolated West Indies population (V): Genetic differentiation, evidence for founder effect and drift.
Gene geography : a computerized bulletin on human gene frequencies 1987;1(2):81-92.
1985: Jean-Louis Serre; L Jakobi; M C Babron
A genetic isolate in the French Pyrenees: probabilities of origin of genes and inbreeding.
Journal of biosocial science 1985;17(4):405-14.
1985: Jean-Louis Serre; M C Babron
Polymorphism and genetic evolution in an isolate in the Antilles: Saint-Barthélémy.
Annals of human biology 1985;12(5):413-9.
1982: Jean-Louis Serre; F M Mayer; N Feingold; J Benoist
[Study of an isolated West Indies population. II. Estimation of the inbreeding value (author's transl)].
Annales de génétique 1982;25(1):43-9.