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Jacques Demaille

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Nathalie Vachiery; Gael Maganga; Thierry Lefrançois; Yane Kandassamy; Frédéric Stachurski; HASSANE ADAKAL; Conchita Ferraz; Anne Morgat; Albert Bensaid; Eric Coissac; Frédéric Boyer; Jacques Demaille; Alain Viari; Dominique Martinez; Roger Frutos
Differential strain-specific diagnosis of the heartwater agent: Ehrlichia ruminantium.
Roger Frutos; Alain Viari; Conchita Ferraz; Albert Bensaid; Anne Morgat; Frédéric Boyer; Eric Coissac; Nathalie Vachiéry; Jacques Demaille; Dominique Martinez
Comparative genomics of three strains of Ehrlichia ruminantium: a review.
Evelyne Derelle; Conchita Ferraz; Stephane Marcel Rombauts; Pierre Rouzé; Alexandra Z Worden; Steven Robbens; Frédéric Partensky; Sven Degroeve; Sophie Echeynié; Richard Cooke; Yvan Saeys; Jan Wuyts; Kamel Jabbari; Chris Bowler; Olivier Panaud; Benoît Piégu; Steven G Ball; Jean-Philippe Ral; François-Yves Bouget; Gwenaël Piganeau; Bernard De Baets; André Picard; Michel Delseny; Jacques Demaille; Yves Van de Peer; Hervé Moreau
Genome analysis of the smallest free-living eukaryote Ostreococcus tauri unveils many unique features.

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All Publications

2008: Nathalie Vachiery; Gael Maganga; Thierry Lefrançois; Yane Kandassamy; Frédéric Stachurski; HASSANE ADAKAL; Conchita Ferraz; Anne Morgat; Albert Bensaid; Eric Coissac; Frédéric Boyer; Jacques Demaille; Alain Viari; Dominique Martinez; Roger Frutos
Differential strain-specific diagnosis of the heartwater agent: Ehrlichia ruminantium.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2008;8(4):459-66.
2006: Roger Frutos; Alain Viari; Conchita Ferraz; Albert Bensaid; Anne Morgat; Frédéric Boyer; Eric Coissac; Nathalie Vachiéry; Jacques Demaille; Dominique Martinez
Comparative genomics of three strains of Ehrlichia ruminantium: a review.
Annals of the New York Academy of Sciences 2006;1081():417-33.
2006: Evelyne Derelle; Conchita Ferraz; Stephane Marcel Rombauts; Pierre Rouzé; Alexandra Z Worden; Steven Robbens; Frédéric Partensky; Sven Degroeve; Sophie Echeynié; Richard Cooke; Yvan Saeys; Jan Wuyts; Kamel Jabbari; Chris Bowler; Olivier Panaud; Benoît Piégu; Steven G Ball; Jean-Philippe Ral; François-Yves Bouget; Gwenaël Piganeau; Bernard De Baets; André Picard; Michel Delseny; Jacques Demaille; Yves Van de Peer; Hervé Moreau
Genome analysis of the smallest free-living eukaryote Ostreococcus tauri unveils many unique features.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(31):11647-52.
2006: Roger Frutos; Alain Viari; Conchita Ferraz; Anne Morgat; Sophie Eychenié; Yane Kandassamy; Isabelle Chantal; Albert Bensaid; Eric Coissac; Nathalie Vachiery; Jacques Demaille; Dominique Martinez
Comparative genomic analysis of three strains of Ehrlichia ruminantium reveals an active process of genome size plasticity.
Journal of bacteriology 2006;188(7):2533-42.
2006: Magali Taulan; François Paquet; Angel Argiles; Jacques Demaille; Marie-Catherine Romey
Comprehensive analysis of the renal transcriptional response to acute uranyl nitrate exposure.
BMC genomics 2006;7():2.
2005: Céline René; Magali Taulan; Florence Iral; Julien Doudement; Aurore L'Honoré; Catherine Gerbon; Jacques Demaille; Mireille Claustres; Marie-Catherine Romey
Binding of serum response factor to cystic fibrosis transmembrane conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulation pathway.
Nucleic acids research 2005;33(16):5271-90.
2004: Magali Taulan; François Paquet; Christophe Maubert; Olivia Delissen; Jacques Demaille; Marie-Catherine Romey
Renal toxicogenomic response to chronic uranyl nitrate insult in mice.
Environmental health perspectives 2004;112(16):1628-35.
2004: Franck Pellestor; Tal Anahory; Brigitte Andréo; Gilles Régnier-Vigouroux; Jean Pierre Soulié; Magalie Baudouin; Jacques Demaille
Fluorescence in situ hybridization analysis of human oocytes: advantages of a double-labeling procedure.
Fertility and sterility 2004;82(4):919-22.
2004: Isabelle Touitou; Suzanne Lesage; Michael McDermott; Laurence Cuisset; Hal Hoffman; Catherine Dode; Nitza Shoham; Ebun Omoyinmi; Jean-Pierre Hugot; Carol Wise; Hans R Waterham; Denis Pugnere; Jacques Demaille; Cyril Sarrauste de Menthiere
Infevers: an evolving mutation database for auto-inflammatory syndromes.
Human mutation 2004;24(3):194-8.
2004: Franck Pellestor; Tal Anahory; Brigitte Andréo; Gilles Régnier-Vigouroux; Jean Pierre Soulié; Magalie Baudouin; Jacques Demaille
Fast multicolor primed in situ protocol for chromosome identification in isolated cells may be used for human oocytes and polar bodies.
Fertility and sterility 2004;81(2):408-15.
2003: Tal Anahory; Brigitte Andréo; Gilles Régnier-Vigouroux; J P Soulie; Magalie Baudouin; Jacques Demaille; Franck Pellestor
Sequential multiple probe fluorescence in-situ hybridization analysis of human oocytes and polar bodies by combining centromeric labelling and whole chromosome painting.
Molecular human reproduction 2003;9(10):577-85.
2003: Nicolas Molinari; Isabelle Koné-Paut; Raffaele Manna; Jacques Demaille; J P Daures; Isabelle Touitou
Identification of an autosomal recessive mode of inheritance in paediatric Behçet's families by segregation analysis.
American journal of medical genetics. Part A 2003;122A(2):115-8.
2003: Anne Girardet; Samir Hamamah; Hervé Déchaud; Tal Anahory; C Coubes; Bernard Hédon; Jacques Demaille; Mireille Claustres
Specific detection of deleted and non-deleted dystrophin exons together with gender assignment in preimplantation genetic diagnosis of Duchenne muscular dystrophy.
Molecular human reproduction 2003;9(7):421-7.
2003: Geneviève Lefort; Patricia Blanchet; Nabia Belgrade; François Rivier; Anne Marie Chaze; Pierre Sarda; Jacques Demaille; Franck Pellestor
Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion.
American journal of medical genetics. Part A 2003;118A(2):333-8.
2003: Pascal Jean Solano; Bruno Mugat; David Martin; Franck Girard; Jean-Marc Huibant; Conchita Ferraz; Bernard Jacq; Jacques Demaille; Florence Maschat
Genome-wide identification of in vivo Drosophila Engrailed-binding DNA fragments and related target genes.
Development (Cambridge, England) 2003;130(7):1243-54.
2003: Anne Girardet; Samir Hamamah; Tal Anahory; Hervé Déchaud; Pierre Sarda; Bernard Hédon; Jacques Demaille; Mireille Claustres
First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers.
Molecular human reproduction 2003;9(2):111-6.
2003: Franck Pellestor; Brigitte Andréo; Françoise Arnal; Claude Humeau; Jacques Demaille
Maternal aging and chromosomal abnormalities: new data drawn from in vitro unfertilized human oocytes.
Human genetics 2003;112(2):195-203.
2003: Denis Pugnère; Manuel Ruiz; Cyril Sarrauste de Menthière; Benjamin Masdoua; Jacques Demaille; Isabelle Touitou
The MetaFMF website: a high quality tool for meta-analysis of FMF.
Nucleic acids research 2003;31(1):286-90.
2003: Cyril Sarrauste de Menthière; Stéphane Terrière; Denis Pugnère; Manuel Ruiz; Jacques Demaille; Isabelle Touitou
INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations.
Nucleic acids research 2003;31(1):282-5.
2002: Geneviève Lefort; Patricia Blanchet; Nabia Belgrade; François Rivier; Anne Marie Chaze; Pierre Sarda; Jacques Demaille; Franck Pellestor
Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion.
American journal of medical genetics 2002;113(4):333-8.
2002: Clair-Florent Schmitt-Bernard; Alain Chavanieu; Gudrun Herrada; Gilles Subra; Bernard Arnaud; Jacques Demaille; Bernard Calas; Angel Argilés
BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro.
European journal of biochemistry / FEBS 2002;269(21):5149-56.
2002: Cécile Notarnicola; Marie-Noëlle Didelot; Isabelle Koné-Paut; Fabienne Seguret; Jacques Demaille; Isabelle Touitou
Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever.
Arthritis and rheumatism 2002;46(10):2785-93.
2002: David Piquemal; Thérèse Commes; Laurent Manchon; Mireille Lejeune; Conchita Ferraz; Denis Pugnère; Jacques Demaille; Jean-Marc Elalouf; Jacques Marti
Transcriptome analysis of monocytic leukemia cell differentiation.
Genomics 2002;80(3):361-71.
2002: Franck Pellestor; Brigitte Andréo; Françoise Arnal; Claude Humeau; Jacques Demaille
Mechanisms of non-disjunction in human female meiosis: the co-existence of two modes of malsegregation evidenced by the karyotyping of 1397 in-vitro unfertilized oocytes.
Human reproduction (Oxford, England) 2002;17(8):2134-45.
2002: M Dupont; A Goldsborough; T Levayer; J Savare; J M Rey; J F Rossi; Jacques Demaille; Thierry Lavabre-Bertrand
Multiplex fluorescent RT-PCR to quantify leukemic fusion transcripts.
BioTechniques 2002;33(1):158-60, 162, 164.
2002: Isabelle Gaillard; Sylvie Rouquier; Jean-Philippe Pin; Patrice Mollard; Sylvain Richard; Cécile Barnabé; Jacques Demaille; Dominique Giorgi
A single olfactory receptor specifically binds a set of odorant molecules.
The European journal of neuroscience 2002;15(3):409-18.
2002: Cécile Notarnicola; M N Didelot; Fabienne Seguret; Jacques Demaille; Isabelle Touitou
Enhanced cytokine mRNA levels in attack-free patients with familial Mediterranean fever.
Genes and immunity 2002;3(1):43-5.
2001: Stefan Bagheri-Fam; C Ferraz; Jacques Demaille; Gerd Scherer; Dietmar Pfeifer
Comparative genomics of the SOX9 region in human and Fugu rubripes: conservation of short regulatory sequence elements within large intergenic regions.
Genomics 2001;78(1-2):73-82.
2001: Dominique Giorgi; C Ferraz; M G Mattéi; Jacques Demaille; Sylvie Rouquier
The myosin light chain kinase gene is not duplicated in mouse: partial structure and chromosomal localization of Mylk.
Genomics 2001;75(1-3):49-56.
2001: Corinne Bareil; Christian P Hamel; Valérie Delague; Bernard Arnaud; Jacques Demaille; Mireille Claustres
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.
Human genetics 2001;108(4):328-34.
2001: Nathalie Pallares-Ruiz; Patricia Blanchet; Michel Mondain; S Low-Hong; Jacques Demaille; Mireille Claustres; Anne-Françoise Roux
Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness.
Genetic testing 2001;5(4):339-43.
2001: Geneviève Lefort; Patricia Blanchet; Anne Marie Chaze; Anne Girardet; Pierre Sarda; Jacques Demaille; Franck Pellestor
Cytogenetic and molecular study of a jumping translocation in a baby with Dandy-Walker malformation.
Journal of medical genetics 2001;38(1):67-73.
2001: Isabelle Touitou; M C Picot; C Domingo; Cécile Notarnicola; Daniel Cattan; Jacques Demaille; Isabelle Koné-Paut
The MICA region determines the first modifier locus in familial Mediterranean fever.
Arthritis and rheumatism 2001;44(1):163-9.
2000: Isabelle Touitou; X Magne; Nicolas Molinari; A Navarro; A L Quellec; P Picco; M Seri; S Ozen; A Bakkaloglu; A Karaduman; Jean-Marc Garnier; Jacques Demaille; Isabelle Koné-Paut
MEFV mutations in Behçet's disease.
Human mutation 2000;16(3):271-2.
2000: Clair-Florent Schmitt-Bernard; Mireille Claustres; Bernard Arnaud; Jacques Demaille; Angel Argiles
Lattice corneal dystrophy.
Ophthalmology 2000;107(9):1613-4.
2000: Clair-Florent Schmitt-Bernard; Alain Chavanieu; J Derancourt; Bernard Arnaud; Jacques Demaille; Bernard Calas; Angel Argiles
In vitro creation of amyloid fibrils from native and Arg124Cys mutated betaIGH3((110-131)) peptides, and its relevance for lattice corneal amyloid dystrophy type I.
Biochemical and biophysical research communications 2000;273(2):649-53.
2000: Corinne Bareil; Valérie Delague; Bernard Arnaud; Jacques Demaille; Christian Hamel; Mireille Claustres
W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa.
Human mutation 2000;15(6):583-4.
2000: Christophe Terzian; C Ferraz; Jacques Demaille; Alain Bucheton
Evolution of the Gypsy endogenous retrovirus in the Drosophila melanogaster subgroup.
Molecular biology and evolution 2000;17(6):908-14.
2000: Clair-Florent Schmitt-Bernard; Caroline Guittard; Bernard Arnaud; Jacques Demaille; Angel Argiles; Mireille Claustres; Sylvie Tuffery-Giraud
BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies.
Investigative ophthalmology & visual science 2000;41(6):1302-8.
2000: C Domingo; Isabelle Touitou; A Bayou; S Ozen; Cécile Notarnicola; M Dewalle; Jacques Demaille; R Buades; C Sayadat; M Levy; Eldad Ben-Chetrit
Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity.
European journal of human genetics : EJHG 2000;8(4):242-6.
2000: Marie-Catherine Romey; Nathalie Pallares-Ruiz; A Mange; C Mettling; R Peytavi; Jacques Demaille; Mireille Claustres
A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression.
The Journal of biological chemistry 2000;275(5):3561-7.
2000: Gustavo Glusman; A Sosinsky; Edna Ben-Asher; Nili Avidan; D Sonkin; Amir Bahar; André Rosenthal; S Clifton; B Roe; C Ferraz; Jacques Demaille; Doron Lancet
Sequence, structure, and evolution of a complete human olfactory receptor gene cluster.
Genomics 2000;63(2):227-45.
2000: A Saridaki; C Ferraz; Jacques Demaille; Gerd Scherer; A F Roux
Genomic sequencing reveals the structure of the Kcnk6 and map3k11 genes and their close vicinity to the sipa1 gene on mouse chromosome 19.
Cytogenetics and cell genetics 2000;89(1-2):85-8.
1999: Corinne Bareil; Christian Hamel; N Pallarès-Ruiz; Bernard Arnaud; Jacques Demaille; Mireille Claustres
Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4.
Ophthalmic genetics 1999;20(3):173-82.
1999: Marie-Catherine Romey; Caroline Guittard; J P Chazalette; P Frossard; KP Dawson; M A Patton; Teresa Casals; T Bazarbachi; Emmanuelle Girodon; G Rault; Dominique Bozon; Fabienne Seguret; Jacques Demaille; Mireille Claustres
Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone.
Human genetics 1999;105(1-2):145-50.
1999: Sylvie Tuffery-Giraud; Sylvie Chambert; Jacques Demaille; Mireille Claustres
[Genotypic diagnosis of Duchenne and Becker muscular dystrophies].
Annales de biologie clinique 1999;57(4):417-26.
1999: Marie-Catherine Romey; Caroline Guittard; S Carles; Jacques Demaille; Mireille Claustres; M Ramsay
First putative sequence alterations in the minimal CFTR promoter region.
Journal of medical genetics 1999;36(3):263-4.
1999: V Brand-Arpon; Sylvie Rouquier; Hillary F Massa; P J de Jong; C Ferraz; P A Ioannou; Jacques Demaille; Barbara J Trask; Dominique Giorgi
A genomic region encompassing a cluster of olfactory receptor genes and a myosin light chain kinase (MYLK) gene is duplicated on human chromosome regions 3q13-q21 and 3p13.
Genomics 1999;56(1):98-110.
1999: Sylvie Taviaux; V Brunel; M Dupont; F Fernandez; C Ferraz; Nadine Carbuccia; Danielle Sainty; Jacques Demaille; Françoise Birg; Marina Lafage-Pochitaloff
Simple variant t(8;21) acute myeloid leukemias harbor insertions of the AML1 or ETO genes.
Genes, chromosomes & cancer 1999;24(2):165-71.
1999: Sylvie Tuffery-Giraud; Sylvie Chambert; Jacques Demaille; Mireille Claustres
Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.
Human mutation 1999;14(5):359-68.
1998: Alain Bernot; C Da Silva; JL Petit; Corinne Cruaud; C Caloustian; V Castet; M Ahmed-Arab; C Dross; M Dupont; Daniel Cattan; Nizar Smaoui; Catherine Dodé; Christophe Pêcheux; B Nédelec; J Medaxian; Michael Rozenbaum; I Rosner; Marc Delpech; Gilles Grateau; Jacques Demaille; Jean Weissenbach; Isabelle Touitou
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
Human molecular genetics 1998;7(8):1317-25.
1998: A de Meeus; Caroline Guittard; M Desgeorges; S Carles; Jacques Demaille; Mireille Claustres
Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.
Journal of medical genetics 1998;35(7):594-6.
1998: Isabelle Touitou; Eldad Ben-Chetrit; Cécile Notarnicola; C Domingo; M Dewalle; C Dross; M Dupont; Jacques Demaille; I Rosner; Michael Rozenbaum
Familial Mediterranean fever clinical and genetic features in Druzes and in Iraqi Jews: a preliminary study.
The Journal of rheumatology 1998;25(5):916-9.
1998: Sylvie Tuffery; Sylvie Chambert; Corinne Bareil; Pierre Sarda; Christine Coubes; Bernard Echenne; Jacques Demaille; Mireille Claustres
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.
Human genetics 1998;102(3):334-42.
1998: Sylvie Rouquier; Sylvie Taviaux; Barbara J Trask; V Brand-Arpon; Ger van den Engh; Jacques Demaille; Dominique Giorgi
Distribution of olfactory receptor genes in the human genome.
Nature genetics 1998;18(3):243-50.
1998: A de Meeus; Caroline Guittard; M Desgeorges; S Carles; Jacques Demaille; Mireille Claustres
Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online.
Human mutation 1998;11(6):480.
1998: M Dewalle; C Domingo; Michael Rozenbaum; E Ben-Chétrit; Daniel Cattan; Alain Bernot; C Dross; M Dupont; Cécile Notarnicola; M Levy; I Rosner; Jacques Demaille; Isabelle Touitou
Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).
European journal of human genetics : EJHG 1998;6(1):95-7.
1998: C Maugard; Sylvie Tuffery; Patricia Aguilar-Martinez; Jean-François Schved; Jean-Christophe Gris; Jacques Demaille; Mireille Claustres
Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts.
Human mutation 1998;11(1):18-22.
1997: L Beaufrère; Sylvie Tuffery; Christian Hamel; Corinne Bareil; Bernard Arnaud; Jacques Demaille; Mireille Claustres
The protein truncation test (PTT) as a method of detection for choroideremia mutations.
Experimental eye research 1997;65(6):849-54.
1997: Corinne Bareil; Christian Hamel; Bernard Arnaud; Jacques Demaille; Mireille Claustres
A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy.
Ophthalmic genetics 1997;18(3):129-38.
1997: M Desgeorges; A Mégarbané; Caroline Guittard; S Carles; J Loiselet; Jacques Demaille; Mireille Claustres
Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.
Human genetics 1997;100(2):279-83.
1997: C Maugard; G Margueritte; Sylvie Tuffery; H Rabesandratana; Jacques Demaille; Mireille Claustres
Recurrent PIG-A mutation (IVS5+1G-->A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test.
British journal of haematology 1997;98(1):21-4.
1997: M Dupont; C Dross; Nizar Smaoui; Brigitte Nedelec; Gilles Grateau; C Clépet; I Gourdier; Isabelle Koné-Paut; Marc Delpech; Jacques Demaille; Isabelle Touitou
Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigrees.
Journal of medical genetics 1997;34(5):375-81.
1997: L Beaufrère; Sylvie Tuffery; Christian Hamel; Corinne Bareil; Bernard Arnaud; Jacques Demaille; Mireille Claustres
[Rapid genetic diagnosis of females carriers related to patients with choroideremia].
Journal français d'ophtalmologie 1997;20(7):534-8.
1997: L Beaufrere; Sylvie Tuffery; Christian Hamel; Corinne Bareil; Bernard Arnaud; Jacques Demaille; Mireille Claustres
An exonic polymorphism (381A/G) in the choroideremia gene.
Genetic counseling (Geneva, Switzerland) 1997;8(3):223-5.
1996: Marie-Catherine Romey; Sylvie Tuffery; M Desgeorges; T Bienvenu; Jacques Demaille; Mireille Claustres
Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test.
Human genetics 1996;98(3):328-32.
1996: L Beaufrère; Sylvie Tuffery; C Hamel; Bernard Arnaud; Jacques Demaille; Mireille Claustres
A novel mutation (S558X) causing choroideremia.
Human mutation 1996;8(4):395.
1996: Sylvie Tuffery; Corinne Bareil; Jacques Demaille; Mireille Claustres
Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients.
European journal of human genetics : EJHG 1996;4(3):143-52.
1995: M Desgeorges; M Rodier; M Piot; Jacques Demaille; Mireille Claustres
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
Human genetics 1995;96(6):717-20.
1995: A de Meeus; E Stephan; S Debrus; M K Jean; Jacques Loiselet; Jean Weissenbach; Jacques Demaille; Patrice Bouvagnet
An isolated cardiac conduction disease maps to chromosome 19q.
Circulation research 1995;77(4):735-40.
1995: Sylvie Tuffery; P Moine; Jacques Demaille; Mireille Claustres
Identification of variable length polyadenosine tract at the dystrophin locus.
Human genetics 1995;95(5):590-2.
1995: S Alonso; M E Pierpont; W Radtke; J Martinez; S C Chen; J W Grant; Ingo Daehnert; S Taviaux; Marie-Catherine Romey; Jacques Demaille
Heterotaxia syndrome and autosomal dominant inheritance.
American journal of medical genetics 1995;56(1):12-5.
1995: Marie-Catherine Romey; M Desgeorges; P Ray; P Godard; Jacques Demaille; Mireille Claustres
Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.
Human mutation 1995;6(2):190-1.
1995: Sylvie Tuffery; U Lenk; Roland Roberts; C Coubes; Jacques Demaille; Mireille Claustres
Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
Human mutation 1995;6(2):126-35.
1995: C Maugard; Patricia Aguilar-Martinez; Jean-François Schved; C Biron; Jean-Christophe Gris; Jacques Demaille; Mireille Claustres
Direct carrier detection for severe haemophilia A: application to families with no available affected male.
Genetic counseling (Geneva, Switzerland) 1995;6(2):109-12.
1994: M P Chevron; Bernard Echenne; Jacques Demaille
Absence of dystrophin and utrophin in a boy with severe muscular dystrophy.
The New England journal of medicine 1994;331(17):1162-3.
1994: Patricia Aguilar-Martinez; Marie-Catherine Romey; Jean-François Schved; Jean-Christophe Gris; Jacques Demaille; Mireille Claustres
Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.
Human genetics 1994;94(3):287-90.
1994: M P Chevron; F Girard; Mireille Claustres; Jacques Demaille
Expression and subcellular localization of dystrophin in skeletal, cardiac and smooth muscles during the human development.
Neuromuscular disorders : NMD 1994;4(5-6):419-32.
1994: Marie-Catherine Romey; M Desgeorges; M Laussel; M F Durand; Jacques Demaille; Mireille Claustres
Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.
Human molecular genetics 1994;3(6):1003-4.
1994: Marie-Catherine Romey; M Desgeorges; P Malzac; J Sarles; Jacques Demaille; Mireille Claustres
Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descent.
Human molecular genetics 1994;3(4):661-2.
1994: J F Culard; M Desgeorges; P Costa; M Laussel; G Razakatzara; H Navratil; Jacques Demaille; Mireille Claustres
Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.
Human genetics 1994;93(4):467-70.
1994: P A Martinez; Marie-Catherine Romey; Jean-François Schved; Jean-Christophe Gris; Jacques Demaille; Mireille Claustres
Direct carrier testing of haemophilia B by SSCP.
Clinical and laboratory haematology 1994;16(1):15-20.
1994: Mireille Claustres; M Laussel; M Desgeorges; Jacques Demaille
Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene.
Human molecular genetics 1994;3(2):371.
1994: J F Culard; M Desgeorges; Marie-Catherine Romey; P Malzac; Jacques Demaille; Mireille Claustres
A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient.
Human molecular genetics 1994;3(2):369-70.
1994: M Desgeorges; P Kjellberg; Jacques Demaille; Mireille Claustres
A healthy male with compound and double heterozygosities for delta F508, F508C, and M47OV in exon 10 of the cystic fibrosis gene.
American journal of human genetics 1994;54(2):384-5.
1994: Patricia Aguilar-Martinez; Marie-Catherine Romey; Jean-Christophe Gris; Jean-François Schved; Jacques Demaille; Mireille Claustres
A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient.
Human mutation 1994;3(2):156-8.
1994: Sylvie Tuffery; P Moine; P Sarda; G Lefort; P Boulot; Jacques Demaille; Mireille Claustres
Molecular diagnosis of Duchenne muscular dystrophy by use of a conformational polymorphism in the absence of DNA from an affected boy.
Genetic counseling (Geneva, Switzerland) 1994;5(2):183-5.
1994: M P Chevron; Jacques Demaille
[Expression and localization of dystrophin during human skeletal, cardiac and smooth muscle development].
Comptes rendus des séances de la Société de biologie et de ses filiales 1994;188(5-6):575-84.
1994: M Desgeorges; M Laussel; B Rollin; Jacques Demaille; Mireille Claustres
Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.
Journal of medical genetics 1994;31(1):84-5.
1993: Marie-Catherine Romey; Patricia Aguilar-Martinez; Jacques Demaille; Mireille Claustres
Rapid detection of single nucleotide deletions: application to the beta 6 (-A) mutation of the beta-globin gene and to cystic fibrosis.
Human genetics 1993;92(6):627-8.
1993: Mireille Claustres; M Laussel; M Desgeorges; M Giansily; J F Culard; G Razakatsara; Jacques Demaille
Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France.
Human molecular genetics 1993;2(8):1209-13.
1993: Patricia Aguilar-Martinez; F Galacteros; Jean-François Schved; Y Blouquit; Jean-Christophe Gris; Jacques Demaille; Mireille Claustres
Comparison of the protein and DNA approaches for the characterization of a beta-globin chain variant, hemoglobin Cocody [beta 21 (B3) Asp--->Asn], in a Caucasian patient.
Annals of hematology 1993;66(5):269-72.
1993: A de Meeus; S Alonso; Jacques Demaille; Patrice Bouvagnet
[Mice SI/Col: a study model in the research of genes involved in situs inversus].
Archives des maladies du coeur et des vaisseaux 1993;86(5):617-22.
1993: M Desgeorges; P Boulot; P Kjellberg; G Lefort; M Rolland; Jacques Demaille; M Claustres
Prenatal diagnosis for cystic fibrosis using SSCP analysis.
Prenatal diagnosis 1993;13(2):147-8.
1993: Sylvie Tuffery; P Moine; Jacques Demaille; Mireille Claustres
Base substitutions in the human dystrophin gene: detection by using the single-strand conformation polymorphism (SSCP) technique.
Human mutation 1993;2(5):368-74.
1993: Patricia Aguilar-Martinez; N Fabre; R Navarro; Jean-François Schved; Jean-Christophe Gris; Marie-Catherine Romey; Jacques Demaille; Mireille Claustres
DNA analysis of haemophilia A families from southern France. Experience of a hospital laboratory.
Genetic counseling (Geneva, Switzerland) 1993;4(4):311-9.
1992: Mireille Claustres; M Desgeorges; P Kjellberg; C Tissot; Jacques Demaille
Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.
Human genetics 1992;90(4):464-6.
1992: Patricia Aguilar-Martinez; R Navarro; Jean-François Schved; Jean-Christophe Gris; H Bonnet; Jacques Demaille
Potential co-existence of haemophilia A and B carrier status in two sisters.
Prenatal diagnosis 1992;12(11):972-3.
1992: M P Chevron; Sylvie Tuffery; Bernard Echenne; Jacques Demaille; Mireille Claustres
Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostaining.
Neuromuscular disorders : NMD 1992;2(1):47-50.
1992: A de Meeus; S Alonso; Jacques Demaille; Patrice Bouvagnet
A detailed linkage map of subtelomeric murine chromosome 12 region including the situs inversus mutation locus IV.
Mammalian genome : official journal of the International Mammalian Genome Society 1992;3(11):637-43.
1992: Sylvie Tuffery; Jacques Demaille; M Claustress
A new intragenic polymorphism detected by the single-strand conformation polymorphism (SSCP) assay in the dystrophin gene.
Human mutation 1992;1(3):221-3.
1992: Mireille Claustres; B Gerrard; P Kjellberg; M Desgeorges; Jacques Demaille; M Dean
Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations.
Human mutation 1992;1(4):310-3.
1991: Mireille Claustres; Sylvie Tuffery; M P Chevron; M P Jozelon; P Martinez; Bernard Echenne; Jacques Demaille
Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies.
Human genetics 1991;88(2):179-84.
1990: Mireille Claustres; P Kjellberg; M Desgeorges; H Bellet; Jacques Demaille
Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy.
Human genetics 1990;86(2):241-3.
1990: Mireille Claustres; M Desgeorges; P Kjellberg; H Bellet; Jacques Demaille; M Ramsay
Cystic fibrosis typing with DNA probes and screening for delta F508 deletion in families from southern France.
Human genetics 1990;85(4):398-9.
1990: Nicole Basset-Séguin; J F Culard; C Kerai; F Bernard; A Watrin; Jacques Demaille; Jean-Jacques Guilhou
Reconstituted skin in culture: a simple method with optimal differentiation.
Differentiation; research in biological diversity 1990;44(3):232-8.
1990: Mireille Claustres; M Desgeorges; P Kjellberg; Jacques Demaille
Identification of carriers by screening for delta F508 deletion in a multi-generation cystic fibrosis family.
Genetic counseling (Geneva, Switzerland) 1990;1(3-4):211-7.
1989: S Taviaux; Anne Moncla; F Giraud; Jacques Demaille; J F Mattei; M G Mattei
[Diagnosis of minor chromosome modifications by molecular cytogenetics].
Annales de génétique 1989;32(4):204-10.