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Thierry Bienvenu

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Thassadite Dirami; Emmanuel Dulioust; Denise Escalier; Gérard Gacon; Natacha Gaitch; Mathilde Jollivet; Caroline Norez; Pierre F Ray; Baptiste Rode; Frédéric Becq; Thierry Bienvenu; Nathalie Da Silva; Pierre Tuffery; Jean-Philippe Wolf; Aminata Touré
Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia.
Thierry Bienvenu; Jamel Chelly; Bertrand Diebold; Bertrand Isidor
Refining the phenotype associated with MEF2C point mutations.
Chloé Delépine; Juliette Nectoux; Nadia Bahi-Buisson; Jamel Chelly; Thierry Bienvenu
MeCP2 deficiency is associated with impaired microtubule stability.

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2013: Thassadite Dirami; Emmanuel Dulioust; Denise Escalier; Gérard Gacon; Natacha Gaitch; Mathilde Jollivet; Caroline Norez; Pierre F Ray; Baptiste Rode; Frédéric Becq; Thierry Bienvenu; Nathalie Da Silva; Pierre Tuffery; Jean-Philippe Wolf; Aminata Touré
Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia.
American journal of human genetics 2013;92(5):760-6.
2013: Thierry Bienvenu; Jamel Chelly; Bertrand Diebold; Bertrand Isidor
Refining the phenotype associated with MEF2C point mutations.
Neurogenetics 2013;14(1):71-5.
2013: Chloé Delépine; Juliette Nectoux; Nadia Bahi-Buisson; Jamel Chelly; Thierry Bienvenu
MeCP2 deficiency is associated with impaired microtubule stability.
FEBS letters 2013;587(2):245-53.
2013: Laure Raymond; François Rivier; Annick Toutain; Nadia Bahi-Buisson; Andre Delahaye; Bertrand Diebold; Valérie Drouin-Garraud; Olivier Dulac; Céline Leroux; Hélène Maurey; Gia Melikishvili; Julia Metreau; Thierry Bienvenu
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.
Gene 2013;512(1):70-5.
2012: Ayman El-Seedy; Pascale Fanen; Emmanuelle Girodon; Alain Kitzis; Frédéric Becq; Thierry Bienvenu; Eric Bieth; Martine Blayau; Faïza Cabet; Alix de Becdelièvre; Marie Des Georges; Guy Lalau; Caroline Norez; Julie Pajaud; Marie-Claude Pasquet; Véronique Ladeveze
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.
Human mutation 2012;33(11):1557-65.
2012: Nadia Bahi-Buisson; Emilie Caietta; Andrée Delahaye; Bertrand Diebold; Aurélia Jacquette; Gert Matthijs; Helene Maurey; Mathieu Milh; Anne Moncla; Hilde Van Esch; Nathalie Villeneuve; Flore Zufferey; Thierry Bienvenu
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
American journal of medical genetics. Part A 2012;158A(7):1612-9.
2012: Juliette Nectoux; Sophie Reibel; Nadia Bahi-Buisson; Jamel Chelly; Chloe Delepine; Cedrick Florian; Malik Khelfaoui; Thierry Bienvenu
Altered microtubule dynamics in Mecp2-deficient astrocytes.
Journal of neuroscience research 2012;90(5):990-8.
2011: Catherine Costa; André Coste; Bruno Costes; Alix de Becdelievre; Ralph Epaud; Pascale Fanen; Christine Gameiro; Marie Des Georges; Abdel Aissat; Laurence Bassinet; Thierry Bienvenu; Eric Bieth; Mireille Claustres; Irina Giurgea; Lisa Golmard; Michel Goossens; Caroline Guittard; Alexandre Hinzpeter; Virginie Pruliere-Escabasse; Emmanuelle Girodon
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2011;10(6):479-82.
2011: Haydeé Rosas-Vargas; José Darío Martínez-Ezquerro; Thierry Bienvenu
Brain-derived neurotrophic factor, food intake regulation, and obesity.
Archives of medical research 2011;42(6):482-94.
2011: Tangui Le Guen; Yann Fichou; Juliette Nectoux; Nadia Bahi-Buisson; François Rivier; Nathalie Boddaert; Bertrand Diebold; Delphine Héron; Jamel Chelly; Thierry Bienvenu
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.
Human mutation 2011;32(2):E2026-35.
2011: Juliette Nectoux; Yann Fichou; nicolas cagnard; Nadia Bahi-Buisson; Patrick Nusbaum; Franck Letourneur; Jamel Chelly; Thierry Bienvenu
Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy.
Journal of molecular medicine (Berlin, Germany) 2011;89(2):193-202.
2011: Tangui Le Guen; Nadia Bahi-Buisson; Juliette Nectoux; Nathalie Boddaert; Yann Fichou; Bertrand Diebold; Isabelle Desguerre; Florence Raqbi; Valérie Cormier Daire; Jamel Chelly; Thierry Bienvenu
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
Neurogenetics 2011;12(1):1-8.
2011: Yann Fichou; Juliette Nectoux; Nadia Bahi-Buisson; Jamel Chelly; Thierry Bienvenu
An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain.
Journal of human genetics 2011;56(1):52-7.
2010: J Nectoux; Y Fichou; Haydeé Rosas-Vargas; nicolas cagnard; Nadia Bahi-Buisson; Patrick Nusbaum; Franck Letourneur; Jamel Chelly; Thierry Bienvenu
Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes.
Journal of cellular and molecular medicine 2010;14(7):1962-74.
2010: Thierry Bienvenu; Isabelle Sermet-Gaudelus; Pierre-Régis Burgel; Dominique Hubert; Bruno Crestani; Laurence Bassinet; Daniel Dusser; Isabelle Fajac
Cystic fibrosis transmembrane conductance regulator channel dysfunction in non-cystic fibrosis bronchiectasis.
American journal of respiratory and critical care medicine 2010;181(10):1078-84.
2010: Nadia Bahi-Buisson; Juliette Nectoux; Benoit Girard; Hilde Van Esch; Thomy De Ravel; Nathalie Boddaert; Perrine Plouin; Marlene Rio; Yann Fichou; Jamel Chelly; Thierry Bienvenu
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.
Neurogenetics 2010;11(2):241-9.
2010: Sylvia Quemener; Jian-Min Chen; Nadia Chuzhanova; Caroline Bénech; Teresa Casals; Milan Macek Jr.; Thierry Bienvenu; Trudi McDevitt; Philip M Farrell; Ourida Loumi; Taieb Messaoud; Harry Cuppens; Garry R Cutting; Peter D Stenson; Karine Giteau; Marie-Pierre Audrézet; David N Cooper; Claude Férec
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
Human mutation 2010;31(4):421-8.
2010: Nadia Bahi-Buisson; Benoit Girard; Agnes Gautier; Juliette Nectoux; Yann Fichou; Yoann Saillour; Karine Poirier; Jamel Chelly; Thierry Bienvenu
Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(1):202-7.
2010: Frédéric Gambino; Malik Khelfaoui; Bernard Poulain; Thierry Bienvenu; Jamel Chelly; Yann Humeau
Synaptic maturation at cortical projections to the lateral amygdala in a mouse model of Rett syndrome.
PloS one 2010;5(7):e11399.
2009: Rima Nabbout; Christel Depienne; Mathilde Chipaux; Benoit Girard; Isabelle Souville; Oriane Trouillard; Olivier Dulac; Jamel Chelly; Alexandra Afenjar; Delphine Héron; Eric LeGuern; Cherif Beldjord; Thierry Bienvenu; Nadia Bahi-Buisson
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.
Epilepsy research 2009;87(1):25-30.
2009: Yann Fichou; Nadia Bahi-Buisson; Juliette Nectoux; Jamel Chelly; Delphine Héron; Laurence Cuisset; Thierry Bienvenu
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.
European journal of human genetics : EJHG 2009;17(11):1378-80.
2009: Yann Fichou; Juliette Nectoux; Nadia Bahi-Buisson; Haydeé Rosas-Vargas; Benoit Girard; Jamel Chelly; Thierry Bienvenu
The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.
Neurogenetics 2009;10(2):127-33.
2009: T Coman; Isabelle Fajac; Thierry Bienvenu; Nadine Desmazes-Dufeu; Dominique Hubert; R Kanaan; Daniel Dusser; Pierre-Régis Burgel
[The diagnosis of cystic fibrosis in adults: lessons from a family story].
Revue des maladies respiratoires 2009;26(1):67-73.
2008: Imen Rejeb; Yoann Saillour; Laetitia Castelnau; Cédric Julien; Thierry Bienvenu; Patricia Taga; Habiba Chaabouni; Jamel Chelly; Lamia Ben Jemaa; Nadia Bahi-Buisson
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
European journal of human genetics : EJHG 2008;16(11):1358-63.
2008: Nadia Bahi-Buisson; Juliette Nectoux; Haydeé Rosas-Vargas; Mathieu Milh; Nathalie Boddaert; Benoit Girard; Claude Cances; Dorothée Ville; Alexandra Afenjar; Marlène Rio; Delphine Héron; Marie Ange N'guyen Morel; Alexis Arzimanoglou; Christophe Philippe; Philippe Jonveaux; Jamel Chelly; Thierry Bienvenu
Key clinical features to identify girls with CDKL5 mutations.
Brain : a journal of neurology 2008;131(Pt 10):2647-61.
2008: Yoann Saillour; Mireille Cossée; France Leturcq; Aurélie Vasson; Caroline Beugnet; Karine Poirier; Virginie Commere; Sébastien Sublemontier; Marion Viel; Franck Letourneur; Jean Claude Barbot; Nathalie Deburgrave; Jamel Chelly; Thierry Bienvenu
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.
Human mutation 2008;29(9):1083-90.
2008: Nadia Bahi-Buisson; Anna Kaminska; Nathalie Boddaert; Marlène Rio; Alexandra Afenjar; Marion Gérard; Fabienne Giuliano; Jacques Motte; Delphine Héron; Marie Ange N'guyen Morel; Perrine Plouin; Christian Richelme; Vincent des Portes; Olivier Dulac; Christophe Philippe; Catherine Chiron; Rima Nabbout; Thierry Bienvenu
The three stages of epilepsy in patients with CDKL5 mutations.
Epilepsia 2008;49(6):1027-37.
2008: Juliette Nectoux; Nadia Bahi-Buisson; I Guellec; Joel Coste; N De Roux; H Rosas; M Tardieu; Jamel Chelly; Thierry Bienvenu
The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome.
Neurology 2008;70(22 Pt 2):2145-51.
2008: Isabelle Fajac; Marion Viel; Sébastien Sublemontier; Dominique Hubert; Thierry Bienvenu
Could a defective epithelial sodium channel lead to bronchiectasis.
Respiratory research 2008;9():46.
2008: Marion Viel; Chrystel Leroy; Dominique Hubert; Isabelle Fajac; Thierry Bienvenu
ENaCbeta and gamma genes as modifier genes in cystic fibrosis.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2008;7(1):23-9.
2007: Yoann Saillour; Ginevra Zanni; Vincent des Portes; D Heron; Laurent Guibaud; M T Iba-Zizen; J L Pedespan; Karine Poirier; L Castelnau; C Julien; C Franconnet; D Bonthron; M E Porteous; Jamel Chelly; Thierry Bienvenu
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.
Journal of medical genetics 2007;44(11):739-44.
2007: Karine Poirier; David A Keays; Fiona Francis; Yoann Saillour; Nadia Bahi; Sylvie Manouvrier; Catherine Fallet-Bianco; Laurent Pasquier; Annick Toutain; Françoise Phan Dinh Tuy; Thierry Bienvenu; Sylvie Joriot; Sylvie Odent; Dorothée Ville; Isabelle Desguerre; Alice Goldenberg; Marie-Laure Moutard; Jean-Pierre Fryns; Hilde Van Esch; Robert Justin Harvey; Christian Siebold; Jonathan Flint; Cherif Beldjord; Jamel Chelly
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
Human mutation 2007;28(11):1055-64.
2007: Juliette Nectoux; Benoit Girard; Nadia Bahi-Buisson; Fabienne Prieur; Alexandra Afenjar; Haydeé Rosas-Vargas; Jamel Chelly; Thierry Bienvenu
Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy.
Pediatric neurology 2007;37(4):270-4.
2007: Xavier Dray; Isabelle Fajac; Thierry Bienvenu; Ariane Chryssostalis; Philippe Sogni; Dominique Hubert
Association of pancreas divisum and recurrent acute pancreatitis with the IVS8-5T-12TG allele of the CFTR gene and CFTR dysfunction.
Pancreas 2007;35(1):90-3.
2006: Aline Quenard; Saliha Yilmaz; Hervé Fontaine; Thierry Bienvenu; Anne Moncla; Vincent des Portes; François Rivier; Michèle Mathieu; Gregory RAUX; Philippe Jonveaux; Christophe Philippe
Deleterious mutations in exon 1 of MECP2 in Rett syndrome.
European journal of medical genetics 2006;49(4):313-22.
2006: Juliette Nectoux; D Heron; M Tallot; Jamel Chelly; Thierry Bienvenu
Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.
Clinical genetics 2006;70(1):29-33.
2006: Florence Niel; Marie Legendre; Thierry Bienvenu; Eric Bieth; Guy Lalau; I Sermet; D Bondeux; R Boukari; J Derelle; P Levy; P Ruszniewski; Josiane Martin; Catherine Costa; Michel Goossens; Emmanuelle Girodon
A new large CFTR rearrangement illustrates the importance of searching for complex alleles.
Human mutation 2006;27(7):716-7.
2006: Jamel Chelly; Malik Khelfaoui; Fiona Francis; Beldjord Chérif; Thierry Bienvenu
Genetics and pathophysiology of mental retardation.
European journal of human genetics : EJHG 2006;14(6):701-13.
2006: Thierry Bienvenu; Christophe Philippe; Nicolas De Roux; Martine Raynaud; Jean Paul Bonnefond; Laurent Pasquier; Gaëtan Lesca; Josette Mancini; Philippe Jonveaux; Anne Moncla; JOSUE FEINGOLD; Jamel Chelly; Laurent Villard
The incidence of Rett syndrome in France.
Pediatric neurology 2006;34(5):372-5.
2006: Dominique Hubert; Catherine Patrat; Juliette Guibert; Nicolas Thiounn; Thierry Bienvenu; Géraldine Viot; Pierre Jouannet; Sylvie Epelboin
Results of assisted reproductive technique in men with cystic fibrosis.
Human reproduction (Oxford, England) 2006;21(5):1232-6.
2006: Karine Poirier; D Lacombe; B Gilbert-Dussardier; Martine Raynaud; Vincent Desportes; Arjan de Brouwer; Claude Moraine; Jean-Pierre Fryns; Hans-Hilger Ropers; Cherif Beldjord; Jamel Chelly; Thierry Bienvenu
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.
Neurogenetics 2006;7(1):39-46.
2006: Juliette Nectoux; Marie-Pierre Audrezet; Marion Viel; Chrystel Leroy; Odile Raguenes; Claude Ferec; Jean-François Lesure; Nolwenne Davy; Michel Renouil; François Cartault; Thierry Bienvenu
A frequent large rearrangement in the CFTR gene in cystic fibrosis patients from Reunion Island.
Genetic testing 2006;10(3):208-14.
2006: Christophe Philippe; Laurent Villard; Nicolas De Roux; M Raynaud; J P Bonnefond; L Pasquier; Gaëtan Lesca; Josette Mancini; Philippe Jonveaux; Anne Moncla; Jamel Chelly; Thierry Bienvenu
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
European journal of medical genetics 2006;49(1):9-18.
2006: Salma Derbel; Celine Doumaguet; Dominique Hubert; Helen Mosnier-Pudar; Sophie Grabar; Jamel Chelly; Thierry Bienvenu
Calpain 10 and development of diabetes mellitus in cystic fibrosis.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2006;5(1):47-51.
2005: Joelle Texereau; Isabelle Fajac; Dominique Hubert; Joel Coste; Daniel Dusser; Thierry Bienvenu; Josette Dall'Ava-Santucci; Anh Tuan Dinh-Xuan
Reduced exhaled NO is related to impaired nasal potential difference in patients with cystic fibrosis.
Vascular pharmacology 2005;43(6):385-9.
2005: Thierry Bienvenu; Marion Viel; Chrystel Leroy; François Cartault; Jean-François Lesure; Michel Renouil
Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening.
Human biology 2005;77(5):705-14.
2005: Karine Poirier; J Abriol; Isabelle Souville; C Laroche-Raynaud; Cherif Beldjord; B Gilbert; Jamel Chelly; Thierry Bienvenu
Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.
Human genetics 2005;118(1):45-8.
2005: Hilde Van Esch; Marijke Bauters; Jaakko Ignatius; Mieke Jansen; Martine Raynaud; Karen Hollanders; Dorien Lugtenberg; Thierry Bienvenu; Lars Riff Jensen; Jozef Gecz; Claude Moraine; Peter Marynen; Jean-Pierre Fryns; Guy Froyen
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
American journal of human genetics 2005;77(3):442-53.
2005: Karine Poirier; Fiona Francis; Ben Hamel; Claude Moraine; Jean-Pierre Fryns; Hans-Hilger Ropers; Jamel Chelly; Thierry Bienvenu
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.
European journal of human genetics : EJHG 2005;13(5):523-4.
2005: Anne Claire Lepretre; Catherine Patrat; Michael John Mitchell; Pierre Jouannet; Thierry Bienvenu
No partial DAZ deletions but frequent gene conversion events on the Y chromosome of fertile men.
Journal of assisted reproduction and genetics 2005;22(4):141-8.
2005: Isabelle Esther Aknin-Seifer; Renaud-Laurian Touraine; Hervé Lejeune; C Jimenez; Jacques Chouteau; J P Siffroi; Ken McElreavey; Thierry Bienvenu; Catherine Patrat; Rachel Levy
Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study.
Human reproduction (Oxford, England) 2005;20(3):736-40.
2005: Marion Viel; Chrystel Leroy; Marie Des Georges; Mireille Claustres; Thierry Bienvenu
Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays.
European journal of human genetics : EJHG 2005;13(2):136-8.
2005: Xavier Dray; R Kanaan; Thierry Bienvenu; Nadine Desmazes-Dufeu; Daniel Dusser; Philippe Marteau; Dominique Hubert
Malnutrition in adults with cystic fibrosis.
European journal of clinical nutrition 2005;59(1):152-4.
2004: Isabelle Fajac; Dominique Hubert; D Guillemot; Isabelle Honoré; Thierry Bienvenu; F Volter; Josette Dall'Ava-Santucci; Daniel Dusser
Nasal airway ion transport is linked to the cystic fibrosis phenotype in adult patients.
Thorax 2004;59(11):971-6.
2004: Anne Claire Lepretre; Catherine Patrat; Pierre Jouannet; Thierry Bienvenu
Mutation analysis of the BOULE gene in men with non-obstructive azoospermia: identification of a novel polymorphic variant in the black population.
International journal of andrology 2004;27(5):301-3.
2004: Dominique Hubert; Isabelle Fajac; Thierry Bienvenu; Nadine Desmazes-Dufeu; Madiha Ellaffi; Josette Dall'Ava-Santucci; Daniel Dusser
Diagnosis of cystic fibrosis in adults with diffuse bronchiectasis.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2004;3(3):203.
2004: Angele Ngukam; Marie Line Jacquemont; Isabelle Souville; Marion Viel; Cherif Beldjord; Dominique Hubert; Jean-Noël Hughes; Thierry Bienvenu
A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens.
Journal of tropical pediatrics 2004;50(4):239-40.
2004: Xavier Dray; Thierry Bienvenu; Nadine Desmazes-Dufeu; Daniel Dusser; Philippe Marteau; Dominique Hubert
Distal intestinal obstruction syndrome in adults with cystic fibrosis.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2004;2(6):498-503.
2004: Hilde Van Esch; Karine Poirier; F de Zegher; Maureen Holvoet; Thierry Bienvenu; Jamel Chelly; koenraad devriendt; J-P Fryns
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.
Clinical genetics 2004;65(6):503-5.
2004: Karine Poirier; Hilde Van Esch; Gaëlle Friocourt; Yoann Saillour; Nadia Bahi; Stéphanie Backer; Evelyne Souil; Laetitia Castelnau-Ptakhine; Cherif Beldjord; Fiona Francis; Thierry Bienvenu; Jamel Chelly
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons.
Brain research. Molecular brain research 2004;122(1):35-46.
2004: Dominique Hubert; Isabelle Fajac; Thierry Bienvenu; Nadine Desmazes-Dufeu; Madiha Ellaffi; Josette Dall'Ava-Santucci; Daniel Dusser
Diagnosis of cystic fibrosis in adults with diffuse bronchiectasis.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2004;3(1):15-22.
2003: Xavier Dray; Philippe Marteau; Thierry Bienvenu; Daniel Dusser; Dominique Hubert
Discussion on genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis.
Gastroenterology 2003;125(4):1286.
2003: Delphine Feldmann; Rémy Couderc; Marie-Pierre Audrezet; Claude Ferec; Thierry Bienvenu; Marie Desgeorges; Mireille Claustres; herve mittre; Martine Blayau; Dominique Bozon; Marie-Claire Malinge; Nicole Monnier; Jean-Paul Bonnefont; Albert Iron; Eric Bieth; Viviane Dumur; Christine Clavel; Cécile Cazeneuve; Emmanuelle Girodon
CFTR genotypes in patients with normal or borderline sweat chloride levels.
Human mutation 2003;22(4):340.
2003: Sylvie Epelboin; Dominique Hubert; Catherine Patrat; Thierry Bienvenu; Helen Mosnier-Pudar; Jacques Lepercq
[Indications and modalities of assisted reproductive techniques in infertile women with cystic fibrosis].
Gynécologie, obstétrique & fertilité 2003;31(9):718-23.
2003: Genoveva Keyeux; Clemencia Rodas; Thierry Bienvenu; Pilar Garavito; Dominique Vidaud; Dora Sanchez; Jean-Claude Kaplan; Gustavo Aristizábal
CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs.
Human mutation 2003;22(3):259.
2003: Thierry Bienvenu; Marion Viel; C Leroy; H Van Esch; Isabelle Fajac; Daniel Dusser; Dominique Hubert
Mutations located in exon 24 of the CFTR gene are associated with a mild cystic fibrosis phenotype.
Clinical genetics 2003;64(3):266-8.
2003: Thierry Bienvenu; Catherine Patrat; Pierre Jouannet
[Molecular detection of Y chromosome microdeletions: a new approach based on the denaturing gradient gel electrophoresis].
Gynécologie, obstétrique & fertilité 2003;31(7-8):639-46.
2003: Thierry Bienvenu; Karine Poirier; Hilde Van Esch; Ben Hamel; Claude Moraine; J P Fryns; Hans-Hilger Ropers; Cherif Beldjord; Helger G Yntema; Jamel Chelly
Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation.
Journal of medical genetics 2003;40(5):357-9.
2003: Philippe Couvert; Karine Poirier; Alain Carrié; Céline Chalas; Pierre Jouannet; Cherif Beldjord; Thierry Bienvenu; Jamel Chelly; Antoine Kerjean
DHPLC-based method for DNA methylation analysis of differential methylated regions from imprinted genes.
BioTechniques 2003;34(2):356-62.
2002: J P Bastard; S Chambert; F Ceppa; M Coude; E Grapez; S Loric; F Muzeau; F Spyratos; Karine Poirier; V Copois; C Tse; Thierry Bienvenu
[RNA isolation and purification methods].
Annales de biologie clinique 2002;60(5):513-23.
2002: Catherine Dodé; Marc André; Thierry Bienvenu; Pierre Hausfater; Christophe Pêcheux; Jacques Bienvenu; Jean-Claude Lecron; Philippe Reinert; Daniel Cattan; Jean-Charles Piette; Marie-France Szajnert; Marc Delpech; Gilles Grateau
The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome.
Arthritis and rheumatism 2002;46(8):2181-8.
2002: Thierry Bienvenu; Karine Poirier; Gaëlle Friocourt; Nadia Bahi; Delphine Beaumont; Fabien Fauchereau; Lamia Ben Jeema; Ramzi Zemni; Marie-Claude Vinet; Fiona Francis; Philippe Couvert; Marie Gomot; Claude Moraine; Hans van Bokhoven; Vera Kalscheuer; Suzanna G M Frints; Jozef Gecz; Kanae Ohzaki; Habiba Chaabouni; Jean-Pierre Fryns; Vincent Desportes; Cherif Beldjord; Jamel Chelly
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
Human molecular genetics 2002;11(8):981-91.
2002: Thierry Bienvenu; Laurent Villard; Nicolas De Roux; Violaine Bourdon; Michel Fontes; Cherif Beldjord; Marc Tardieu; Philippe Jonveaux; Jamel Chelly
Spectrum of MECP2 mutations in Rett syndrome.
Genetic testing 2002;6(1):1-6.
2001: Violaine Bourdon; Christophe Philippe; Thierry Bienvenu; B Koenig; Marc Tardieu; Jamel Chelly; Philippe Jonveaux
Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.
Journal of medical genetics 2001;38(12):867-71.
2001: Sylvie Epelboin; Dominique Hubert; Catherine Patrat; F Abirached; Thierry Bienvenu; Jacques Lepercq
Management of assisted reproductive technologies in women with cystic fibrosis.
Fertility and sterility 2001;76(6):1280-1.
2001: Thierry Bienvenu; Isabelle Souville; Karine Poirier; C Aquaviva; L Burglen; J Amiel; Bénédicte Héron; A Kaminska; Philippe Couvert; Cherif Beldjord; Jamel Chelly
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.
Human mutation 2001;18(3):251-2.
2001: Thierry Bienvenu; Catherine Patrat; Ken McElreavey; Marta De Almeida; Pierre Jouannet
Reduction in the DAZ gene copy number in two infertile men with impaired spermatogenesis.
Annales de génétique 2001;44(3):125-8.
2001: Philippe Couvert; Thierry Bienvenu; C Aquaviva; Karine Poirier; Claude Moraine; Chantal Gendrot; Alain Verloes; C Andrès; A C Le Fevre; Isabelle Souville; J Steffann; Vincent des Portes; Hans-Hilger Ropers; Helger G Yntema; J P Fryns; Sylvain Briault; Jamel Chelly; B Cherif
MECP2 is highly mutated in X-linked mental retardation.
Human molecular genetics 2001;10(9):941-6.
2001: M Girard; Philippe Couvert; Alain Carrié; Marc Tardieu; Jamel Chelly; Cherif Beldjord; Thierry Bienvenu
Parental origin of de novo MECP2 mutations in Rett syndrome.
European journal of human genetics : EJHG 2001;9(3):231-6.
2000: Thierry Bienvenu; Vincent des Portes; N McDonell; Alain Carrié; Ramzi Zemni; Philippe Couvert; Hans-Hilger Ropers; Claude Moraine; Hans van Bokhoven; Jean-Pierre Fryns; K Allen; Christopher Walsh; J Boué; Axel Kahn; Jamel Chelly; Cherif Beldjord
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
American journal of medical genetics 2000;93(4):294-8.
2000: Thierry Bienvenu; Alain Carrié; Nicolas De Roux; Marie-Claude Vinet; Philippe Jonveaux; Philippe Couvert; Laurent Villard; A Arzimanoglou; Cherif Beldjord; Michel Fontes; Marc Tardieu; Jamel Chelly
MECP2 mutations account for most cases of typical forms of Rett syndrome.
Human molecular genetics 2000;9(9):1377-84.
2000: H Lucas; Catherine Patrat; Pierre Jouannet; C Beldjord; Thierry Bienvenu
A novel, rapid, and accurate method for detecting microdeletion involving the DAZ gene in infertile men.
Fertility and sterility 2000;73(2):242-7.
2000: Ramzi Zemni; Thierry Bienvenu; Marie-Claude Vinet; abdelaziz sefiani; Alain Carrié; Pierre Billuart; N McDonell; Philippe Couvert; Fiona Francis; Philippe Chafey; Fabien Fauchereau; Gaëlle Friocourt; Vincent des Portes; A Cardona; Suzanna G M Frints; Alfons Meindl; Oliver Brandau; Nathalie Ronce; Claude Moraine; Hans van Bokhoven; Hans-Hilger Ropers; Ralf Sudbrak; Axel Kahn; Jean-Pierre Fryns; Cherif Beldjord; Jamel Chelly
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
Nature genetics 2000;24(2):167-70.
2000: Mireille Claustres; Caroline Guittard; Dominique Bozon; F Chevalier; C Verlingue; Claude Ferec; Emmanuelle Girodon; Cécile Cazeneuve; Thierry Bienvenu; Guy Lalau; Viviane Dumur; Delphine Feldmann; Eric Bieth; Martine Blayau; Christine Clavel; I Creveaux; Marie-Claire Malinge; Nicole Monnier; P Malzac; herve mittre; J C Chomel; Jean-Paul Bonnefont; Albert Iron; M Chery; M D Georges
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Human mutation 2000;16(2):143-56.
2000: Pierre Billuart; Jamel Chelly; Alain Carrié; Marie-Claude Vinet; Philippe Couvert; N McDonell; Ramzi Zemni; Axel Kahn; Claude Moraine; Cherif Beldjord; Thierry Bienvenu
Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation.
Annales de génétique 2000;43(1):5-9.
1999: Thierry Bienvenu; S Bousquet; Isabelle Souville; Cherif Beldjord
[Interference of P1290 P polymorphism (4002 A--> G) in molecular diagnosis of mucoviscidosis using the cystic fibrosis assay: an example of a diagnostic trap].
Annales de biologie clinique 1999;57(6):741-2.
1999: Alain Carrié; Lin Jun; Thierry Bienvenu; Marie-Claude Vinet; N McDonell; Philippe Couvert; Ramzi Zemni; A Cardona; Griet Van Buggenhout; Suzanna G M Frints; Ben Hamel; Claude Moraine; Hans-Hilger Ropers; T Strom; G R Howell; A Whittaker; Mark T Ross; Axel Kahn; Jean-Pierre Fryns; Cherif Beldjord; Peter Marynen; Jamel Chelly
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
Nature genetics 1999;23(1):25-31.
1999: Alain Carrié; V Nepotes; Pierre Billuart; Cherif Beldjord; Thierry Bienvenu; Jamel Chelly; T Bruls; R Heilig; J Weissenbach; Lin Jun; Peter Marynen
Construction of a highly annotated cosmid contig spanning 550Kb within the X-linked nonspecific mental retardation candidate region at Xp21.3-22.1.
American journal of medical genetics 1999;85(3):252-4.
1999: Xavier Puéchal; Isabelle Fajac; Thierry Bienvenu; Nadine Desmazes-Dufeu; Dominique Hubert; Jean-Claude Kaplan; CJ Menkès; Daniel Dusser
Increased frequency of cystic fibrosis deltaF508 mutation in bronchiectasis associated with rheumatoid arthritis.
The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology 1999;13(6):1281-7.
1999: Thierry Bienvenu; C Meunier; S Bousquet; S Chiron; L Richard; A Gautheret-Dejean; J F Rouselle; D Feldmann
[Different procedures for the isolation of DNA from blood samples].
Annales de biologie clinique 1999;57(1):77-84.
1998: Isabelle Fajac; Dominique Hubert; Thierry Bienvenu; B Richaud-Thiriez; R Matran; Jean-Claude Kaplan; Josette Dall'Ava-Santucci; Daniel Dusser
Relationships between nasal potential difference and respiratory function in adults with cystic fibrosis.
The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology 1998;12(6):1295-300.
1998: Pierre Billuart; Thierry Bienvenu; Nathalie Ronce; Vincent des Portes; Marie-Claude Vinet; Ramzi Zemni; Alain Carrié; Cherif Beldjord; Axel Kahn; Claude Moraine; Jamel Chelly
Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation.
Pathologie-biologie 1998;46(9):678.
1998: François Cartault; J Steffann; D Vidaud; S Bousquet; F Lesure; Michel Renouil; N McDonell; J Feingold; Cherif Beldjord; Thierry Bienvenu
Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L)
Clinical genetics 1998;54(5):437-9.
1998: Thierry Bienvenu; Vincent des Portes; A Saint Martin; N McDonell; Pierre Billuart; Alain Carrié; Marie-Claude Vinet; Philippe Couvert; D Toniolo; Hans-Hilger Ropers; Claude Moraine; Hans van Bokhoven; Jean-Pierre Fryns; Axel Kahn; Cherif Beldjord; Jamel Chelly
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.
Human molecular genetics 1998;7(8):1311-5.
1998: Pierre Billuart; Thierry Bienvenu; Nathalie Ronce; Vincent des Portes; Marie-Claude Vinet; Ramzi Zemni; H Roest Crollius; Alain Carrié; Fabien Fauchereau; M Cherry; Sylvain Briault; Ben Hamel; Jean-Pierre Fryns; Cherif Beldjord; Axel Kahn; Claude Moraine; Jamel Chelly
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.
Nature 1998;392(6679):923-6.
1998: Vincent des Portes; Alain Carrié; Pierre Billuart; Virginie Kieffer; Thierry Bienvenu; Marie-Claude Vinet; Cherif Beldjord; A Kahn; Gérard Ponsot; Jamel Chelly; Marie-Laure Moutard
Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation.
Clinical genetics 1998;53(2):136-41.
1998: Thierry Bienvenu; S Bousquet; Dominique Vidaud; Dominique Hubert; C Francoual; Cherif Beldjord; Jean-Claude Kaplan
A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.
Human mutation 1998;12(3):213-4.
1998: J Steffann; Dominique Vidaud; S Bousquet; M Jullien; A Ninot; Jean-Claude Kaplan; Cherif Beldjord; Thierry Bienvenu
Novel double mutant CF allele identified in a cystic fibrosis patient with meconium ileus.
Annales de génétique 1998;41(4):213-5.
1998: Thierry Bienvenu; Jacques Lepercq; J P Allard; Dominique Hubert; C Francoual; Cherif Beldjord; Jean-Claude Kaplan
Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French family.
Annales de génétique 1998;41(1):63-4.
1997: Vincent des Portes; N Soufir; Alain Carrié; Pierre Billuart; Thierry Bienvenu; Marie-Claude Vinet; Cherif Beldjord; Gérard Ponsot; Axel Kahn; J Boué; Jamel Chelly
Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.
American journal of medical genetics 1997;72(3):324-8.
1997: Thierry Bienvenu; S Bousquet; Stanislas LYONNET; Jean-Claude Kaplan; Cherif Beldjord
1283 del A: a novel mutation in exon 8 of the cystic fibrosis gene.
Human heredity 1997;47(3):173-5.
1997: Vincent des Portes; Pierre Billuart; Alain Carrié; L Bachner; Thierry Bienvenu; Marie-Claude Vinet; Cherif Beldjord; Gérard Ponsot; Axel Kahn; J Boué; Jamel Chelly
A gene for dominant nonspecific X-linked mental retardation is located in Xq28.
American journal of human genetics 1997;60(4):903-9.
1997: Thierry Bienvenu; H Der-Sarkissian; Pierre Billuart; M Tissot; Vincent des Portes; T Brüls; J P Chabrolle; P Chauveau; M Cherry; Axel Kahn; D Cohen; Cherif Beldjord; Jamel Chelly; D Cherif
Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.
European journal of human genetics : EJHG 1997;5(2):105-9.
1997: Thierry Bienvenu
[Molecular basis of phenotype heterogeneity in cystic fibrosis].
Annales de biologie clinique 1997;55(2):113-21.
1997: Vincent des Portes; Jean-Marc Pinard; D Smadja; Jacques Motte; O Boespflüg-Tanguy; Marie-Laure Moutard; Isabelle Desguerre; Pierre Billuart; A Carrie; Thierry Bienvenu; Marie-Claude Vinet; L Bachner; Cherif Beldjord; O Dulac; Axel Kahn; Gérard Ponsot; Jamel Chelly
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.
Journal of medical genetics 1997;34(3):177-83.
1997: Thierry Bienvenu; M Adjiman; Nicolas Thiounn; Marc Jeanpierre; Dominique Hubert; J Lepercoq; C Francoual; J Wolf; Vincent Izard; Pierre Jouannet; Jean-Claude Kaplan; Cherif Beldjord
Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients.
Annales de génétique 1997;40(1):5-9.
1996: Dominique Hubert; Thierry Bienvenu; N Desmazes-Dufeu; Isabelle Fajac; Jacques Lacronique; R Matran; Jean-Claude Kaplan; Daniel Dusser
Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients.
The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology 1996;9(11):2207-14.
1996: Vincent des Portes; L Bachner; T Brüls; Cherif Beldjord; Pierre Billuart; N Soufir; Thierry Bienvenu; Marie-Claude Vinet; E Malaspina; V Marchiani; E Bertini; Axel Kahn; E Franzoni; Jamel Chelly
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.
American journal of medical genetics 1996;64(1):69-72.
1996: Pierre Billuart; Marie-Claude Vinet; Vincent des Portes; Stéphane Llense; L Richard; Marie-Laure Moutard; Dominique Recan; T Brüls; Thierry Bienvenu; Axel Kahn; Cherif Beldjord; Jamel Chelly
Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation.
Human molecular genetics 1996;5(7):977-9.
1996: Thierry Bienvenu; M Claustres
[Molecular basis of cystic fibrosis and congenital bilateral agenesis of vas deferens].
Contraception, fertilité, sexualité (1992) 1996;24(6):495-500.
1996: Thierry Bienvenu; François Cartault; F Lesure; Michel Renouil; Cherif Beldjord; Jean-Claude Kaplan
A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island.
Human heredity 1996;46(3):168-71.
1996: Thierry Bienvenu; Cherif Beldjord; Jamel Chelly; N Fonknechten; Dominique Hubert; Daniel Dusser; Jean-Claude Kaplan
Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis patients.
European journal of human genetics : EJHG 1996;4(3):127-34.
1996: Thierry Bienvenu; Dominique Hubert; E Setbon; Daniel Dusser; Jean-Claude Kaplan; Cherif Beldjord
A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients.
Human mutation 1996;7(2):182.
1995: Thierry Bienvenu; C Beldjord; Jean-Claude Kaplan; D Hubert; D Dusser
Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote.
Journal of medical genetics 1995;32(11):919.
1995: Thierry Bienvenu; V Lacronique; Michel Raymondjean; C Cazeneuve; Dominique Hubert; Jean-Claude Kaplan; Cherif Beldjord
Three novel sequence variations in the 5' upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defect.
Human genetics 1995;95(6):698-702.
1995: C Cazeneuve; Cherif Beldjord; Jean-Claude Kaplan; Thierry Bienvenu
Diagnostic usefulness of the polymorphism of the GT dinucleotide and the polythymidine tract in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Annales de génétique 1995;38(4):202-5.
1995: Thierry Bienvenu; C Cazeneuve; Jean-Claude Kaplan; Cherif Beldjord
Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide.
Human mutation 1995;6(1):23-9.
1995: Thierry Bienvenu; C Cazeneuve; Isabelle Fajac; Daniel Dusser; Dominique Hubert; Jean-Claude Kaplan; Cherif Beldjord
Identification of a novel missense mutation G239R in exon 6a of the CFTR gene.
Human heredity 1995;45(1):53-4.
1994: Thierry Bienvenu; Dominique Hubert; N Fonknechten; Daniel Dusser; Jean-Claude Kaplan; Cherif Beldjord
Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene.
Human genetics 1994;94(1):65-8.
1994: Thierry Bienvenu; C Cazeneuve; Cherif Beldjord; Daniel Dusser; Jean-Claude Kaplan; Dominique Hubert
A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient.
Human molecular genetics 1994;3(2):365-6.
1994: Thierry Bienvenu; P Petitpretz; Cherif Beldjord; Jean-Claude Kaplan
A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene.
Human mutation 1994;3(4):395-6.
1994: Thierry Bienvenu; G Lenoir; N Fonknechten; F Desclaux-Arramond; Jean-Claude Kaplan; Cherif Beldjord
Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene.
Human mutation 1994;3(1):69-70.
1993: N Fonknechten; Thierry Bienvenu; C Moriscot; Cherif Beldjord; Axel Kahn; C Figarella; Jean-Claude Kaplan
Skipping of exon 9 in CFTR mRNA of human adult and fetal pancreas from non-CF individuals.
Human molecular genetics 1993;2(12):2141-2.
1993: E Fernandez; Thierry Bienvenu; F Desclaux Arramond; K Beldjord; Jean-Claude Kaplan; Cherif Beldjord
Use of chemical clamps in denaturing gradient gel electrophoresis: application in the detection of the most frequent Mediterranean beta-thalassemic mutations.
PCR methods and applications 1993;3(2):122-4.
1993: Thierry Bienvenu; C Beldjord; M Adjiman; J C Kaplan
Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.
Journal of medical genetics 1993;30(9):797.
1993: Thierry Bienvenu; Cherif Beldjord; N Fonknechten; Jean-Claude Kaplan; G Lenoir
Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
Journal of medical genetics 1993;30(7):621-2.
1993: Thierry Bienvenu; S Bousquet; C Herbulot; François Cartault; Jean-Claude Kaplan; Cherif Beldjord
Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island.
Human mutation 1993;2(4):306-8.
1992: Thierry Bienvenu; P Sebillon; Dominique Labie; Jean-Claude Kaplan; Cherif Beldjord
Rapid and direct detection of the most frequent Mediterranean beta-thalassemic mutations by multiplex allele-specific enzymatic amplification.
Human biology 1992;64(1):107-13.
1991: P Sebillon; Thierry Bienvenu; R Girot; Dominique Labie; Jean-Claude Kaplan; Cherif Beldjord
Detection of the most frequent beta-thalassemic defect in Southeast Asia by PCR.
Hemoglobin 1991;15(4):313-5.