FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Martine Vaxillaire

Research Profile

Disorders

Genes & Molecular Sequences

Single Nucleotide Polymorphism

Physiology

Chemicals & Drugs

Concepts & Ideas

Geographic Areas

France

Living Beings

European Continental Ancestry Group

Co-author Network

Publications

TOP 3
A Bonnefond; Guillaume Charpentier; Sébastien Czernichow; Aurélie Dechaume; I Ezzidi; philippe froguel; Anette P Gjesing; Samy HADJADJ; Torben Hansen; Serge Hercberg; O Lantieri; Michel Marre; Oluf Pedersen; Julien Philippe; Emmanuel Vaillant; E A Andersson; Beverley Balkau; L Yengo; Martine Vaxillaire
Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes.
Abdelbasset Amara; Rim Brahem; Molka Chadli-Chaieb; Larbi Chaieb; Aurelie Dechaume; Philippe Froguele; Hela Ghezaiel; Moez Gribaa; Julien Philippe; Ali Saad; Martine Vaxillaire
Familial early-onset diabetes is not a typical MODY in several Tunisian patients.
Stéphane Cauchi; L Chaieb; Mohamed Chikri; Y El Achhab; I Ezzidi; Y Labrune; Touhami Mahjoub; Nabil Mtiraoui; C Nejjari; D Salah; Martine Vaxillaire; L Yengo; D Beury; philippe froguel
European genetic variants associated with type 2 diabetes in North African Arabs.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Martine Vaxillaire (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: A Bonnefond; Guillaume Charpentier; Sébastien Czernichow; Aurélie Dechaume; I Ezzidi; philippe froguel; Anette P Gjesing; Samy HADJADJ; Torben Hansen; Serge Hercberg; O Lantieri; Michel Marre; Oluf Pedersen; Julien Philippe; Emmanuel Vaillant; E A Andersson; Beverley Balkau; L Yengo; Martine Vaxillaire
Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes.
Diabetologia 2013;56(3):492-6.
2012: Abdelbasset Amara; Rim Brahem; Molka Chadli-Chaieb; Larbi Chaieb; Aurelie Dechaume; Philippe Froguele; Hela Ghezaiel; Moez Gribaa; Julien Philippe; Ali Saad; Martine Vaxillaire
Familial early-onset diabetes is not a typical MODY in several Tunisian patients.
La Tunisie médicale 2012;90(12):882-7.
2012: Stéphane Cauchi; L Chaieb; Mohamed Chikri; Y El Achhab; I Ezzidi; Y Labrune; Touhami Mahjoub; Nabil Mtiraoui; C Nejjari; D Salah; Martine Vaxillaire; L Yengo; D Beury; philippe froguel
European genetic variants associated with type 2 diabetes in North African Arabs.
Diabetes & metabolism 2012;38(4):316-23.
2012: Martine Vaxillaire; Amélie Bonnefond; philippe froguel
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis.
Best practice & research. Clinical endocrinology & metabolism 2012;26(2):171-87.
2012: Amélie Bonnefond; Nabila Bouatia-Naji; Guillaume Charpentier; Nathalie Clément; Sébastien Czernichow; Aurélie Dechaume; Christian Dina; Katherine Fawcett; Beverley Balkau; Inês Barroso; Jean-Luc Guillaume; Samy HADJADJ; Serge Hercberg; Ralf JOckers; Claudia Langenberg; Olivier Lantieri; Michel Marre; Mark I McCarthy; Felicity Payne; Ghislain Rocheleau; Ronan Roussel; Robert Sladek; Emmanuel Vaillant; Martine Vaxillaire; Nicholas J Wareham; Loïc Yengo; philippe froguel
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes.
Nature genetics 2012;44(3):297-301.
2012: Jean-Pierre Riveline; Elise Rousseau; Guillaume Charpentier; Aurélie Dechaume; Sabrina Fetita; philippe froguel; Jean-François Gautier; Agnès Hartemann; Catherine Petit; Julien Philippe; Michel Polak; Yves Reznik; Martine Vaxillaire
Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations.
Diabetes care 2012;35(2):248-51.
2012: Amélie Bonnefond; Franck De Graeve; Aurélie Dechaume; Jérôme Delplanque; Emmanuelle Durand; Isabelle Fajardy; Beverley Balkau; Marlène Huyvaert; David Le Guilcher; Cécile Lecoeur; Michel Marre; Louise Montagne; Julien Philippe; Olivier Sand; Anne Vambergue; Vincent Vatin; Martine Vaxillaire; philippe froguel
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
PloS one 2012;7(6):e37423.
2012: Marie Boutant; philippe froguel; Marjo-Riitta Jarvelin; Cécile Lecoeur; Anaïs Perilhou; Julien Philippe; Oscar Henrique Pereira Ramos; Donald Scott; Sylvain Sebert; Emmanuel Vaillant; Beatriz Valcarcel; Martine Vaxillaire; Pili Zhang; Beverley Balkau; Mireille Vasseur-Cognet
Glucose-dependent regulation of NR2F2 promoter and influence of SNP-rs3743462 on whole body insulin sensitivity.
PloS one 2012;7(5):e35810.
2011: Andrey P Babenko; Martine Vaxillaire
Mechanism of KATP hyperactivity and sulfonylurea tolerance due to a diabetogenic mutation in L0 helix of sulfonylurea receptor 1 (ABCC8).
FEBS letters 2011;585(22):3555-9.
2011: Amélie Bonnefond; Kanetee Busiah; Navtej S Buttar; Hélène Cavé; Aurélie Dechaume; philippe froguel; Ugur Hodoglugil; Juan Iovanna; Stéphane Lobbens; Gwen Lomberk; Brigitte Mignot; Bernadette Neve; François Pattou; Michel Polak; Raphael Scharfmann; Albane Simon; Roland Stein; Sinan Tanyolaç; Emmanuel Vaillant; Martine Vaxillaire; Loïc Yengo; Raul Urrutia
Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.
The Journal of biological chemistry 2011;286(32):28414-24.
2011: Lucie Gonsorcikova; Torben Hansen; Oluf Pedersen; Stepanka Pruhova; Martine Vaxillaire; Ondrej Cinek; Aurélie Dechaume; Petra Dusatkova; philippe froguel; Jan Lebl
Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations.
Pediatric diabetes 2011;12(3 Pt 2):266-9.
2011: Yu Fukuda; Lydia Aguilar-Bryan; Martine Vaxillaire; Aurelie Dechaume; Yao Wang; Michael Dean; karobi moitra; Joseph Bryan; John D Schuetz
Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8.
The Journal of biological chemistry 2011;286(10):8481-92.
2010: R Bouhaha; H Choquet; David Meyre; H Abid Kamoun; Hajer Ennafaa; T Baroudi; R Sassi; Martine Vaxillaire; Amel Elgaaied; philippe froguel; S Cauchi
TCF7L2 is associated with type 2 diabetes in nonobese individuals from Tunisia.
Pathologie-biologie 2010;58(6):426-9.
2010: Nabila Bouatia-Naji; Amélie Bonnefond; Devin A Baerenwald; Marion Marchand; Marco Bugliani; Piero Marchetti; François Pattou; Richard L Printz; Brian P Flemming; Obi C Umunakwe; Nicholas L Conley; Martine Vaxillaire; Olivier Lantieri; Beverley Balkau; Michel Marre; Claire Lévy-Marchal; Paul Elliott; Marjo-Riitta Jarvelin; David Meyre; Christian Dina; James K Oeser; philippe froguel; Richard M O'Brien
Genetic and functional assessment of the role of the rs13431652-A and rs573225-A alleles in the G6PC2 promoter that are strongly associated with elevated fasting glucose levels.
Diabetes 2010;59(10):2662-71.
2010: Amélie Bonnefond; philippe froguel; Martine Vaxillaire
The emerging genetics of type 2 diabetes.
Trends in molecular medicine 2010;16(9):407-16.
2010: Rym Bouhaha; Thouraya Baroudi; Hajer Ennafaa; Emanuel Vaillant; Hafawa Abid; Rim Sassi; Vincent Vatin; philippe froguel; Amel Benammar-el Gaaied; David Meyre; Martine Vaxillaire
Study of TNFalpha -308G/A and IL6 -174G/C polymorphisms in type 2 diabetes and obesity risk in the Tunisian population.
Clinical biochemistry 2010;43(6):549-52.
2010: Gargi Meur; Albane Simon; Nasret Harun; Marie Virally; Aurélie Dechaume; Amélie Bonnefond; Sabrina Fetita; Andrei I Tarasov; Pierre-Jean Guillausseau; Trine Welløv Boesgaard; Oluf Pedersen; Torben Hansen; Michel Polak; Jean-François Gautier; philippe froguel; Guy A Rutter; Martine Vaxillaire
Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.
Diabetes 2010;59(3):653-61.
2010: Amélie Bonnefond; Emmanuelle Durand; Olivier Sand; Franck De Graeve; Sophie Gallina; Kanetee Busiah; Stéphane Lobbens; Albane Simon; Christine Bellanné-Chantelot; Louis Létourneau; Raphael Scharfmann; Jérôme Delplanque; Robert Sladek; Michel Polak; Martine Vaxillaire; philippe froguel
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.
PloS one 2010;5(10):e13630.
2009: Martine Vaxillaire; philippe froguel
Monogenic forms of diabetes mellitus: an update.
Endocrinología y nutrición : órgano de la Sociedad Española de Endocrinología y Nutrición 2009;56 Suppl 4():26-9.
2009: Amélie Bonnefond; Martine Vaxillaire; Yann Labrune; Cécile Lecoeur; Jean-Claude Chèvre; Nabila Bouatia-Naji; Stéphane Cauchi; Beverley Balkau; Michel Marre; Jean Tichet; Jean-Pierre Riveline; Samy HADJADJ; Yves Gallois; Sébastien Czernichow; Serge Hercberg; Marika Kaakinen; Susanne Wiesner; Guillaume Charpentier; Claire Lévy-Marchal; Paul Elliott; Marjo-Riitta Jarvelin; Fritz Horber; Christian Dina; Oluf Pedersen; Robert Sladek; David Meyre; philippe froguel
Genetic variant in HK1 is associated with a proanemic state and A1C but not other glycemic control-related traits.
Diabetes 2009;58(11):2687-97.
2009: Hélène Choquet; Christine Cavalcanti-Proença; Cécile Lecoeur; Christian Dina; Stéphane Cauchi; Martine Vaxillaire; Samy HADJADJ; Fritz F Horber; Natascha Potoczna; Guillaume Charpentier; Juan Ruiz; Serge Hercberg; Suliya Maimaitiming; Ronan Roussel; Michael Boenhnke; Anne U Jackson; Wolfgang Patsch; Franz Krempler; Benjamin F Voight; David Altshuler; Leif Groop; Gudmar Thorleifsson; Valgerdur Steinthorsdottir; Kari Stefansson; Beverley Balkau; philippe froguel; David Meyre
The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects.
Human molecular genetics 2009;18(13):2495-501.
2009: Thomas Sparsø; Amélie Bonnefond; Ehm Andersson; Nabila Bouatia-Naji; Johan Holmkvist; Lise Wegner; Niels Grarup; Anette P Gjesing; Karina Banasik; Christine Cavalcanti-Proença; Marion Marchand; Martine Vaxillaire; Guillaume Charpentier; Marjo-Riitta Jarvelin; Jean Tichet; Beverley Balkau; Michel Marre; Claire Lévy-Marchal; Kristine Faerch; Knut Borch-Johnsen; Torben Jørgensen; Sten Madsbad; Pernille Poulsen; Allan Vaag; Christian Dina; Torben Hansen; Oluf Pedersen; philippe froguel
G-allele of intronic rs10830963 in MTNR1B confers increased risk of impaired fasting glycemia and type 2 diabetes through an impaired glucose-stimulated insulin release: studies involving 19,605 Europeans.
Diabetes 2009;58(6):1450-6.
2009: A Bonnefond; Nabila Bouatia-Naji; A Simon; C Saint-Martin; Aurélie Dechaume; P de Lonlay; Michel Polak; C Bellanné-Chantelot; philippe froguel; Martine Vaxillaire
Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction.
Diabetologia 2009;52(5):982-5.
2009: Martine Vaxillaire; Pharm D; Amélie Bonnefond; philippe froguel
Breakthroughs in monogenic diabetes genetics: from pediatric forms to young adulthood diabetes.
Pediatric endocrinology reviews : PER 2009;6(3):405-17.
2009: Intissar Ezzidi; Nabil Mtiraoui; Stéphane Cauchi; Emmanuel Vaillant; Aurélie Dechaume; Molka Chaieb; Maha Kacem; Wassim Y Almawi; philippe froguel; Touhami Mahjoub; Martine Vaxillaire
Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study.
BMC medical genetics 2009;10():33.
2009: Ingrid Dahlman; Maria Nilsson; Harvest F Gu; Cecile Lecoeur; Suad Efendic; Claes G Ostenson; Kerstin Brismar; Jan-Ake Gustafsson; philippe froguel; Martine Vaxillaire; Karin Dahlman-Wright; Knut R Steffensen
Functional and genetic analysis in type 2 diabetes of liver X receptor alleles--a cohort study.
BMC medical genetics 2009;10():27.
2008: Ingrid Dahlman; Martine Vaxillaire; Maria Nilsson; Cecile Lecoeur; Harvest F Gu; Christine Cavalcanti-Proença; Suad Efendic; Claes G Ostenson; Kerstin Brismar; Guillaume Charpentier; Jan-�ke GUSTAFSSON; philippe froguel; Karin Dahlman-Wright; Knut R Steffensen
Estrogen receptor alpha gene variants associate with type 2 diabetes and fasting plasma glucose.
Pharmacogenetics and genomics 2008;18(11):967-75.
2008: Beverley Balkau; Céline Lange; Leopold Fezeu; Jean Tichet; Blandine de Lauzon-Guillain; Sebastien czernichow; Frederic Fumeron; philippe froguel; Martine Vaxillaire; Stephane Cauchi; Pierre Ducimetière; Eveline Eschwège
Predicting diabetes: clinical, biological, and genetic approaches: data from the Epidemiological Study on the Insulin Resistance Syndrome (DESIR).
Diabetes care 2008;31(10):2056-61.
2008: Martine Vaxillaire; Christine Cavalcanti-Proença; Aurélie Dechaume; Jean Tichet; Michel Marre; Beverley Balkau; philippe froguel
The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population.
Diabetes 2008;57(8):2253-7.
2008: Doris Taha; Jawaher Bardise; Alaa Hegab; Amélie Bonnefond; Marion Marchand; Severine Drunat; Martine Vaxillaire; Michel Polak
Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections.
Pediatric diabetes 2008;9(3 Pt 1):240-4.
2008: Andrei I Tarasov; Tamara J Nicolson; Jean-Pierre Riveline; Tarvinder K Taneja; Stephen A Baldwin; Jocelyn M Baldwin; Guillaume Charpentier; Jean-François Gautier; philippe froguel; Martine Vaxillaire; Guy A Rutter
A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults.
Diabetes 2008;57(6):1595-604.
2008: Nabila Bouatia-Naji; Ghislain Rocheleau; Leentje Van Lommel; Katleen Lemaire; Frans Schuit; Christine Cavalcanti-Proença; Marion Marchand; Anna-Liisa Hartikainen; Ulla Sovio; Franck De Graeve; Johan Rung; Martine Vaxillaire; Jean Tichet; Michel Marre; Beverley Balkau; Jacques Weill; Paul Elliott; Marjo-Riitta Jarvelin; David Meyre; Constantin Polychronakos; Christian Dina; Robert Sladek; philippe froguel
A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels.
Science (New York, N.Y.) 2008;320(5879):1085-8.
2008: Martine Vaxillaire; philippe froguel
Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes.
Endocrine reviews 2008;29(3):254-64.
2008: Michel Polak; Aurélie Dechaume; Hélène Cavé; Revital Nimri; Hélène Crosnier; Véronique Sulmont; Marc De Kerdanet; Raphael Scharfmann; Yael Lebenthal; philippe froguel; Martine Vaxillaire
Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.
Diabetes 2008;57(4):1115-9.
2008: Stéphane Cauchi; Christine Proença; Hélène Choquet; Stefan Gaget; Franck De Graeve; Michel Marre; Beverley Balkau; Jean Tichet; David Meyre; Martine Vaxillaire; philippe froguel
Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study.
Journal of molecular medicine (Berlin, Germany) 2008;86(3):341-8.
2008: Isabelle Flechtner; Martine Vaxillaire; Hélène Cavé; Raphael Scharfmann; philippe froguel; Michel Polak
Neonatal hyperglycaemia and abnormal development of the pancreas.
Best practice & research. Clinical endocrinology & metabolism 2008;22(1):17-40.
2008: Martine Vaxillaire; Jacques Veslot; Christian Dina; Christine Proença; Stéphane Cauchi; Guillaume Charpentier; Jean Tichet; Frédéric Fumeron; Michel Marre; David Meyre; Beverley Balkau; philippe froguel
Impact of common type 2 diabetes risk polymorphisms in the DESIR prospective study.
Diabetes 2008;57(1):244-54.
2007: Ottavia Porzio; Ornella Massa; Veronica Cunsolo; C Colombo; M Malaponti; Federico Bertuzzi; T Hansen; A Johansen; Oluf Pedersen; Franco Meschi; Alessandro Terrinoni; Gerry Melino; Massimo Federici; N Decarlo; Michele Menicagli; Daniela Campani; Piero Marchetti; M Ferdaoussi; philippe froguel; Giorgio Federici; Martine Vaxillaire; Fabrizio Barbetti
Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes. Mutation in brief no. 982. Online.
Human mutation 2007;28(11):1150.
2007: Isabelle Flechtner; Martine Vaxillaire; Hélène Cavé; philippe froguel; Michel Polak
[Neonatal diabetes: a disease linked to multiple mechanisms].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2007;14(11):1356-65.
2007: Martine Vaxillaire; Aurélie Dechaume; Kanetee Busiah; Hélène Cavé; Sabrina Pereira; Raphael Scharfmann; Guiomar Perez de Nanclares; Luis Castano; philippe froguel; Michel Polak
New ABCC8 mutations in relapsing neonatal diabetes and clinical features.
Diabetes 2007;56(6):1737-41.
2007: Vassili Valayannopoulos; Martine Vaxillaire; Yves Aigrain; Francis Jaubert; Christine Bellanné-Chantelot; Maria-João Ribeiro; Francis Brunelle; philippe froguel; Jean-Jacques Robert; Michel Polak; Claire Nihoul-Fékété; Pascale de Lonlay
Coexistence in the same family of both focal and diffuse forms of hyperinsulinism.
Diabetes care 2007;30(6):1590-2.
2007: Isabelle Flechtner; Martine Vaxillaire; Hélène Cavé; Raphael Scharfmann; philippe froguel; Michel Polak
Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences.
Endocrine development 2007;12():86-98.
2007: Stéphane Cauchi; Martine Vaxillaire; Hélène Choquet; Emmanuelle Durand; Alex Duval; M Polak; philippe froguel
No major contribution of TCF7L2 sequence variants to maturity onset of diabetes of the young (MODY) or neonatal diabetes mellitus in French white subjects.
Diabetologia 2007;50(1):214-6.
2007: Nabil Mtiraoui; Intissar Ezzidi; Molka Chaieb; Hela Marmouche; Zied Aouni; Arbi Chaieb; Touhami Mahjoub; Martine Vaxillaire; Wassim Y Almawi
MTHFR C677T and A1298C gene polymorphisms and hyperhomocysteinemia as risk factors of diabetic nephropathy in type 2 diabetes patients.
Diabetes research and clinical practice 2007;75(1):99-106.
2006: Steven Wiltshire; Jordana Tzenova Bell; Christopher J Groves; Christian Dina; Andrew T Hattersley; Timothy M Frayling; M Walker; Graham A Hitman; Martine Vaxillaire; Martin Farrall; philippe froguel; Mark I McCarthy
Epistasis between type 2 diabetes susceptibility Loci on chromosomes 1q21-25 and 10q23-26 in northern Europeans.
Annals of human genetics 2006;70(Pt 6):726-37.
2006: Eleftheria Zeggini; Coleen M Damcott; Robert L Hanson; Mohammad A Karim; Nigel W Rayner; Christopher J Groves; Leslie J Baier; Terri C Hale; Andrew T Hattersley; Graham A Hitman; Sarah E Hunt; William C Knowler; Braxton D Mitchell; Maggie C Y Ng; Jeffrey R O'Connell; Toni I Pollin; Martine Vaxillaire; Mark Walker; Xiaoqin Wang; Pamela Whittaker; Kun-san Xiang; Xiang Kunsun; Weiping Jia; Juliana C N Chan; philippe froguel; Panos Deloukas; Alan R Shuldiner; Steven C Elbein; Mark I McCarthy
Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q.
Diabetes 2006;55(9):2541-8.
2006: Andrey P Babenko; Michel Polak; Hélène Cavé; Kanetee Busiah; Paul Czernichow; Raphael Scharfmann; Joseph Bryan; Lydia Aguilar-Bryan; Martine Vaxillaire; philippe froguel
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
The New England journal of medicine 2006;355(5):456-66.
2006: Martine Vaxillaire; philippe froguel
Genetic basis of maturity-onset diabetes of the young.
Endocrinology and metabolism clinics of North America 2006;35(2):371-84, x.
2006: Claire Cheyssac; Christian Dina; frederic lepretre; Valérie Vasseur-Delannoy; Aurélie Dechaume; Stéphane Lobbens; Beverley Balkau; Juan Ruiz; Guillaume Charpentier; François Pattou; Erik Joly; Marc Prentki; Torben Hansen; Oluf Pedersen; Martine Vaxillaire; philippe froguel
EIF4A2 is a positional candidate gene at the 3q27 locus linked to type 2 diabetes in French families.
Diabetes 2006;55(4):1171-6.
2006: Riphed Jaziri; Stéphane Lobbens; Roberte Aubert; Franck Péan; Saida Lahmidi; Martine Vaxillaire; Isabelle Porchay; Naïma Bellili; Jean Tichet; Beverley Balkau; philippe froguel; Michel Marre; Frédéric Fumeron
The PPARG Pro12Ala polymorphism is associated with a decreased risk of developing hyperglycemia over 6 years and combines with the effect of the APM1 G-11391A single nucleotide polymorphism: the Data From an Epidemiological Study on the Insulin Resistance Syndrome (DESIR) study.
Diabetes 2006;55(4):1157-62.
2006: Martine Vaxillaire; Aurélie Dechaume; Valérie Vasseur-Delannoy; Saida Lahmidi; Vincent Vatin; frederic lepretre; Philippe Boutin; Serge Hercberg; Guillaume Charpentier; Christian Dina; philippe froguel
Genetic analysis of ADIPOR1 and ADIPOR2 candidate polymorphisms for type 2 diabetes in the Caucasian population.
Diabetes 2006;55(3):856-61.
2006: Claire Cheyssac; Cécile Lecoeur; Aurélie Dechaume; Amina Bibi; Guillaume Charpentier; Beverley Balkau; Michel Marre; philippe froguel; Fernando Gibson; Martine Vaxillaire
Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population.
BMC medical genetics 2006;7():44.
2005: Helmut Grasberger; Martine Vaxillaire; Silvana Pannain; John C Beck; Aviva Mimouni-Bloch; Vincent Vatin; Gilbert Vassart; philippe froguel; Samuel Refetoff
Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1.
Human genetics 2005;118(3-4):348-55.
2005: Bernadette Neve; Martin E Fernandez Zapico; Vered Ashkenazi-Katalan; Christian Dina; Yasmin H Hamid; Erik Joly; Emmanuel Vaillant; Yamina Benmezroua; Emmanuelle Durand; Nicolas Bakaher; Valérie Delannoy; Martine Vaxillaire; Tiffany Cook; Geesje M Dallinga-Thie; Hans Jansen; Marie-Aline Charles; Karine Clément; Pilar Galan; Serge Hercberg; Nicole Helbecque; Guillaume Charpentier; Marc Prentki; Torben Hansen; Oluf Pedersen; Raul Urrutia; Danielle Melloul; philippe froguel
Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(13):4807-12.
2005: Martine Vaxillaire; Christian Dina; Stéphane Lobbens; Aurélie Dechaume; Valérie Vasseur-Delannoy; Nicole Helbecque; Guillaume Charpentier; philippe froguel
Effect of common polymorphisms in the HNF4alpha promoter on susceptibility to type 2 diabetes in the French Caucasian population.
Diabetologia 2005;48(3):440-4.
2004: Martine Vaxillaire; Céline Populaire; Kanetee Busiah; Hélène Cavé; Anna L Gloyn; Andrew T Hattersley; Paul Czernichow; philippe froguel; Michel Polak
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
Diabetes 2004;53(10):2719-22.
2004: Delphine Eberlé; Karine Clément; David Meyre; Mourad Sahbatou; Martine Vaxillaire; Annie Le Gall; Pascal Ferré; Arnaud Basdevant; philippe froguel; Fabienne Foufelle
SREBF-1 gene polymorphisms are associated with obesity and type 2 diabetes in French obese and diabetic cohorts.
Diabetes 2004;53(8):2153-7.
2004: frederic lepretre; Francis Vasseur; Martine Vaxillaire; Philipp E Scherer; Saira Ali; Kenneth Linton; Timothy J Aitman; philippe froguel
A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes.
Human mutation 2004;24(1):104.
2003: Céline Populaire; Yasumichi Mori; Christian Dina; Francis Vasseur; Martine Vaxillaire; Takashi Kadowaki; philippe froguel
Does the -11377 promoter variant of APM1 gene contribute to the genetic risk for Type 2 diabetes mellitus in Japanese families?
Diabetologia 2003;46(3):443-5.
2003: Timothy M Frayling; Cecilia M Lindgren; Jean Claude Chevre; Stephan Menzel; Marie Wishart; Yamina Benmezroua; Alison Brown; Julie C Evans; Pamidghantam Subba Rao; Christian Dina; Cécile Lecoeur; Timo Kanninen; Peter Almgren; Michael P Bulman; Youxiang Wang; James Mills; Rosemarie Wright-Pascoe; Melanie M Mahtani; Francesco Prisco; Angels Costa; Ignacio Cognet; Torben Hansen; Oluf Pedersen; Sian Ellard; Tiinamaija Tuomi; Leif C Groop; philippe froguel; Andrew T Hattersley; Martine Vaxillaire
A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity.
Diabetes 2003;52(3):872-81.
2002: Francis Vasseur; Nicole Helbecque; Christian Dina; Stéphane Lobbens; Valérie Delannoy; Stéphane Gaget; Philippe Boutin; Martine Vaxillaire; frederic lepretre; Sophie Dupont; Kazuo Hara; Karine Clément; Bernard E Bihain; Takashi Kadowaki; philippe froguel
Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians.
Human molecular genetics 2002;11(21):2607-14.
2002: Simon M S Mitchell; Martine Vaxillaire; Heike Thomas; Marcelina Parrizas; Yamina Benmezroua; Angels Costa; Torben Hansen; Katharine R Owen; Tiinamaija Tuomi; F Pirie; Gerhart U Ryffel; J Ferrer; philippe froguel; Andrew T Hattersley; Timothy M Frayling
Rare variants identified in the HNF- 4 alpha beta-cell-specific promoter and alternative exon 1 lack biological significance in maturity onset diabetes of the young and young onset Type II diabetes.
Diabetologia 2002;45(9):1344-8.
2002: Martine Vaxillaire; C Samson; Hélène Cavé; C Metz; philippe froguel; M Polak
Glucokinase gene mutations are not a common cause of permanent neonatal diabetes in France.
Diabetologia 2002;45(3):454-5.
2002: Amanda Stride; Martine Vaxillaire; Tiinamaija Tuomi; Fabrizio Barbetti; Pål R Njølstad; Torben Hansen; Angels Costa; I Conget; Oluf Pedersen; Oddmund Søvik; Renata Lorini; L Groop; philippe froguel; Andrew T Hattersley
The genetic abnormality in the beta cell determines the response to an oral glucose load.
Diabetologia 2002;45(3):427-35.
2001: Martine Vaxillaire; Yamina Benmezroua; Emmanuelle Durand; Francis Vasseur; philippe froguel
No evidence for diabetes-associated mutations of PEK/EIF2AK3 gene in French patients with early-onset type II diabetes.
Diabetologia 2001;44(6):786.
2001: Sophie Dupont; El Habib Hani; Corentin Cras-Méneur; F De Matos; Stéphane Lobbens; Cécile Lecoeur; Martine Vaxillaire; Raphael Scharfmann; philippe froguel
No evidence for linkage or for diabetes-associated mutations in the activin type 2B receptor gene (ACVR2B) in French patients with mature-onset diabetes of the young or type 2 diabetes.
Diabetes 2001;50(5):1219-21.
2001: Evi Soutoglou; B Viollet; Martine Vaxillaire; Moshe Yaniv; Marco Pontoglio; Iannis Talianidis
Transcription factor-dependent regulation of CBP and P/CAF histone acetyltransferase activity.
The EMBO journal 2001;20(8):1984-92.
2000: Amar Abderrahmani; Jean-Claude Chèvre; S Otabe; M Chikri; El Habib Hani; Martine Vaxillaire; Y Hinokio; Y Horikawa; GI Bell; philippe froguel
Genetic variation in the hepatocyte nuclear factor-3beta gene (HNF3B) does not contribute to maturity-onset diabetes of the young in French Caucasians.
Diabetes 2000;49(2):306-8.
1999: Martine Vaxillaire; Amar Abderrahmani; Philippe Boutin; B Bailleul; philippe froguel; Moshe Yaniv; Marco Pontoglio
Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations.
The Journal of biological chemistry 1999;274(50):35639-46.
1999: Martine Vaxillaire; M E Pueyo; Karine Clément; J Fiet; José Timsit; J Philippe; J J Robert; L Tappy; philippe froguel; Gilberto Velho
Insulin secretion and insulin sensitivity in diabetic and non-diabetic subjects with hepatic nuclear factor-1alpha (maturity-onset diabetes of the young-3) mutations.
European journal of endocrinology / European Federation of Endocrine Societies 1999;141(6):609-18.
1998: Jean-Claude Chèvre; El Habib Hani; Philippe Boutin; Martine Vaxillaire; Hélène Blanché; Nathalie Vionnet; Victor Cavalcanti Pardini; José Timsit; Etienne Larger; Guillaume Charpentier; D Beckers; M Maes; Christine Bellanné-Chantelot; Gilberto Velho; philippe froguel
Mutation screening in 18 Caucasian families suggest the existence of other MODY genes.
Diabetologia 1998;41(9):1017-23.
1998: JF Surmely; E Guenat; Jacques Philippe; P Dussoix; Philippe Schneiter; E Temler; Martine Vaxillaire; philippe froguel; Eric Jéquier; Luc Tappy
Glucose utilization and production in patients with maturity-onset diabetes of the young caused by a mutation of the hepatocyte nuclear factor-1alpha gene.
Diabetes 1998;47(9):1459-63.
1997: Philippe Boutin; Jean-Claude Chèvre; El Habib Hani; R Gomis; Victor Cavalcanti Pardini; P J Guillausseau; Martine Vaxillaire; Gilberto Velho; philippe froguel
An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1alpha gene (maturity-onset diabetes of the young).
Diabetes 1997;46(12):2108-9.
1997: Martine Vaxillaire; M Rouard; K Yamagata; Naohisa Oda; Pamela J Kaisaki; V V Boriraj; J C Chevre; V Boccio; R D Cox; G Mark Lathrop; P Dussoix; Jacques Philippe; José Timsit; Guillaume Charpentier; Gilberto Velho; Graeme I Bell; philippe froguel
Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).
Human molecular genetics 1997;6(4):583-6.
1997: Torben Hansen; H Eiberg; M Rouard; Martine Vaxillaire; AM Møller; Søren K Rasmussen; M Fridberg; Søren A Urhammer; J J Holst; Katrine Almind; Søren M Echwald; Lars Hansen; Graeme I Bell; Oluf Pedersen
Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation.
Diabetes 1997;46(4):726-30.
1997: P Dussoix; Martine Vaxillaire; P B Iynedjian; J M Tiercy; J Ruiz; G A Spinas; W Berger; G Zahnd; philippe froguel; Jacques Philippe
Diagnostic heterogeneity of diabetes in lean young adults: classification based on immunological and genetic parameters.
Diabetes 1997;46(4):622-31.
1997: Gilberto Velho; Hélène Blanché; Martine Vaxillaire; Christine Bellanné-Chantelot; Victor Cavalcanti Pardini; José Timsit; Philippe Passa; I Deschamps; Jean-Jacques Robert; Irene T Weber; D Marotta; S J Pilkis; G M Lipkind; G I Bell; philippe froguel
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
Diabetologia 1997;40(2):217-24.
1996: K Yamagata; Naohisa Oda; Pamela J Kaisaki; Stephan Menzel; H Furuta; Martine Vaxillaire; L Southam; R D Cox; G Mark Lathrop; V V Boriraj; X Chen; Nancy J Cox; Y Oda; H Yano; Michelle M Le Beau; S Yamada; H Nishigori; J Takeda; SS Fajans; Andrew T Hattersley; Naoko Iwasaki; Torben Hansen; Oluf Pedersen; Kenneth S Polonsky; Graeme I Bell
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)
Nature 1996;384(6608):455-8.
1996: Gilberto Velho; Martine Vaxillaire; V Boccio; Guillaume Charpentier; philippe froguel
Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12q.
Diabetes care 1996;19(9):915-9.
1996: Karine Clément; M E Pueyo; Martine Vaxillaire; Benjamin Rakotoambinina; F Thuillier; Philippe Passa; philippe froguel; Jean-Jacques Robert; Gilberto Velho
Assessment of insulin sensitivity in glucokinase-deficient subjects.
Diabetologia 1996;39(1):82-90.
1995: Suzanne Lesage; El Habib Hani; Anne Philippi; Martine Vaxillaire; J Hager; Philippe Passa; F Demenais; philippe froguel; Nathalie Vionnet
Linkage analyses of the MODY3 locus on chromosome 12q with late-onset NIDDM.
Diabetes 1995;44(10):1243-7.
1995: Martine Vaxillaire; V Boccio; Anne Philippi; C Vigouroux; Joseph D Terwilliger; Philippe Passa; Jacques Beckmann; Gilberto Velho; G Mark Lathrop; philippe froguel
A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q.
Nature genetics 1995;9(4):418-23.
1994: M E Pueyo; K Clement; Martine Vaxillaire; Philippe Passa; philippe froguel; Jean-Jacques Robert; Gilberto Velho
Arginine-induced insulin release in glucokinase-deficient subjects.
Diabetes care 1994;17(9):1015-21.
1994: Martine Vaxillaire; Nathalie Vionnet; C Vigouroux; F Sun; R Espinosa; M M Lebeau; M Stoffel; M Lehto; Jacques Beckmann; Michel detheux
Search for a third susceptibility gene for maturity-onset diabetes of the young. Studies with eleven candidate genes.
Diabetes 1994;43(3):389-95.
1993: F Sun; bertrand knebelmann; M E Pueyo; Habib Zouali; Suzanne Lesage; Martine Vaxillaire; Philippe Passa; D Cohen; Gilberto Velho; Corinne Antignac
Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young.
The Journal of clinical investigation 1993;92(3):1174-80.
1993: Habib Zouali; Martine Vaxillaire; Suzanne Lesage; F Sun; Gilberto Velho; Nathalie Vionnet; K Chiu; Philippe Passa; A Permutt; F Demenais
Linkage analysis and molecular scanning of glucokinase gene in NIDDM families.
Diabetes 1993;42(9):1238-45.
1993: J Takeda; M Gidh-Jain; L Z Xu; philippe froguel; Gilberto Velho; Martine Vaxillaire; D Cohen; F Shimada; H Makino; S Nishi
Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.
The Journal of biological chemistry 1993;268(20):15200-4.
1993: philippe froguel; Habib Zouali; Nathalie Vionnet; Gilberto Velho; Martine Vaxillaire; F Sun; Suzanne Lesage; M Stoffel; J Takeda; Philippe Passa
Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.
The New England journal of medicine 1993;328(10):697-702.
1992: philippe froguel; Martine Vaxillaire; F Sun; Gilberto Velho; Habib Zouali; M O Butel; Suzanne Lesage; Nathalie Vionnet; Karine Clément; Françoise Fougerousse
Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus.
Nature 1992;356(6365):162-4.