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Eric Bieth

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Julie Plaisancié; Ghislaine Plessis; Sabine Sigaudy; Fréderic Vaysse; Alain Verloes; Catherine Vincent-Delorme; Marc Abramowicz; Isabelle Bailleul-Forestier; Eric Bieth; Patrick Calvas; Estelle Colin; Christine Coubes; Bénédicte Demeer; Hélène Dollfus; Laurence Faivre; Véronique Gaston; Encarna Guillén-Navarro; Muriel Holder-Espinasse; Philippe Jonveaux; Didier Lacombe; Dominique Martin-Coignard; Nicolas Chassaing
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
Alexandre Hinzpeter; Natacha Martin; Elvira Sondo; Luis J V Galietta; Emmanuelle Girodon; Michel Goossens; Abdel Aissat; Eric Bieth; Catherine Costa; Bruno Costes; Alix de Becdelièvre; Pascale Fanen
Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.
Judith Fillaux; Michel Abbal; Antoine Berry; Eric Bieth; François Brémont; Sophie Cassaing; Marléne Murris; Bernard Pipy; JL Rittié; Christine Segonds; Laurent Tétu; Jean-François Magnaval
Assessment of Aspergillus sensitization or persistent carriage as a factor in lung function impairment in cystic fibrosis patients.

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All Publications

2013: Julie Plaisancié; Ghislaine Plessis; Sabine Sigaudy; Fréderic Vaysse; Alain Verloes; Catherine Vincent-Delorme; Marc Abramowicz; Isabelle Bailleul-Forestier; Eric Bieth; Patrick Calvas; Estelle Colin; Christine Coubes; Bénédicte Demeer; Hélène Dollfus; Laurence Faivre; Véronique Gaston; Encarna Guillén-Navarro; Muriel Holder-Espinasse; Philippe Jonveaux; Didier Lacombe; Dominique Martin-Coignard; Nicolas Chassaing
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
American journal of medical genetics. Part A 2013;161(4):671-8.
2013: Alexandre Hinzpeter; Natacha Martin; Elvira Sondo; Luis J V Galietta; Emmanuelle Girodon; Michel Goossens; Abdel Aissat; Eric Bieth; Catherine Costa; Bruno Costes; Alix de Becdelièvre; Pascale Fanen
Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.
Human mutation 2013;34(2):287-91.
2012: Judith Fillaux; Michel Abbal; Antoine Berry; Eric Bieth; François Brémont; Sophie Cassaing; Marléne Murris; Bernard Pipy; JL Rittié; Christine Segonds; Laurent Tétu; Jean-François Magnaval
Assessment of Aspergillus sensitization or persistent carriage as a factor in lung function impairment in cystic fibrosis patients.
Scandinavian journal of infectious diseases 2012;44(11):842-7.
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.
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.
2007: Myriam Vezain; Pascale Saugier-Veber; Judith Melki; Annick Toutain; Eric Bieth; Marie Husson; Jean-Michel Pedespan; Louis Viollet; Isabelle Pénisson-Besnier; Séverine Fehrenbach; Jacqueline Bou; Thierry Frébourg; Mario Tosi
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
European journal of human genetics : EJHG 2007;15(10):1054-62.
2007: Sibel Kantarci; Lihadh Al-Gazali; R Sean Hill; Dian Donnai; Graeme C M Black; Eric Bieth; Nicolas Chassaing; Didier Lacombe; koenraad devriendt; Ahmad Teebi; Maria Loscertales; Caroline Robson; Tianming Liu; David T MacLaughlin; Kristin M Noonan; Meaghan K Russell; Christopher Walsh; Patricia K Donahoe; Barbara R Pober
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Nature genetics 2007;39(8):957-9.
2007: Isabelle Gennero; Thomas Edouard; Mona Rashad; Eric Bieth; Françoise Conte-Aurio; Françoise Marin; Maïthé Tauber; Jean-Pierre Salles; Mohamed El Kholy
Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome.
Journal of pediatric endocrinology & metabolism : JPEM 2007;20(7):825-31.
2007: Christelle M Durand; Catalina Betancur; Tobias M Boeckers; Jürgen Bockmann; Pauline Chaste; Fabien Fauchereau; Gudrun Nygren; Maria Rastam; I Carina Gillberg; Henrik Anckarsäter; Eili Sponheim; Hany Goubran-Botros; Richard Delorme; Nadia Chabane; Marie-Christine Mouren-Simeoni; Philippe De Mas; Eric Bieth; Bernadette Rogé; Delphine Héron; Lydie Burglen; Christopher Gillberg; Marion Leboyer; Thomas Bourgeron
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
Nature genetics 2007;39(1):25-7.
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: Christel Thauvin-Robinet; Mireille Cossée; Valérie Cormier-Daire; Lionel Van Maldergem; Annick Toutain; Y Alembik; Eric Bieth; Valérie Layet; Philippe Parent; A David; Alice Goldenberg; Geert R Mortier; Delphine Héron; Paul Sagot; A M Bouvier; F Huet; Véronica Cusin; A Donzel; D Devys; Jean-Raymond Teyssier; Laurence Faivre
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.
Journal of medical genetics 2006;43(1):54-61.
2004: Sylvie Tuffery-Giraud; Céline Saquet; Sylvie Chambert; Bernard Echenne; Jean Marie Cuisset; François Rivier; Mireille Cossée; Christophe Philippe; Nicole Monnier; Eric Bieth; Dominique Recan; Marie Antoinette Voelckel; Serge Perelman; Jean-Claude Lambert; Sue Malcolm; Mireille Claustres
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.
Neuromuscular disorders : NMD 2004;14(10):650-8.
2004: Nicolas Chassaing; Philippe De Mas; Maïthé Tauber; Marie-Claire Vincent; Sophie Julia; Georges Bourrouillou; Patrick Calvas; Eric Bieth
Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype.
American journal of medical genetics. Part A 2004;128A(4):410-3.
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: Nicolas Chassaing; Didier Lacombe; Dominique Carles; Patrick Calvas; Robert Saura; Eric Bieth
Donnai-Barrow syndrome: four additional patients.
American journal of medical genetics. Part A 2003;121A(3):258-62.
2002: Marie-Pierre Reboul; Eric Bieth; M Fayon; Nicolas Biteau; R Barbier; C Dromer; Marie Desgeorges; Mireille Claustres; F Bremont; Didier Lacombe; Albert Iron
Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.
Journal of medical genetics 2002;39(11):e73.
2002: Philippe De Mas; Nicolas Chassaing; Yves Chaix; Marie-Claire Vincent; Sophie Julia; Georges Bourrouillou; Patrick Calvas; Eric Bieth
Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome.
Journal of medical genetics 2002;39(4):e17.
2002: Françoise Conte; Jean-Pierre Salles; Patrick Raynal; Laurent Fernandez; Catherine Molinas; Maïthé Tauber; Eric Bieth
Identification of a region critical for proteolysis of the human growth hormone receptor.
Biochemical and biophysical research communications 2002;290(2):851-7.
2001: S Federici; Albert Iron; Marie-Pierre Reboul; Marie Desgeorges; Mireille Claustres; F Bremont; Eric Bieth
[CFTR gene analyis in 207 patients with cystic fibrosis in southwest France: high frequency of N1303K and 1811+1.6bA>G mutations].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2001;8(2):150-7.
2000: Sophie Julia; Eric Bieth
[Genetic counseling in cystic fibrosis].
Revue des maladies respiratoires 2000;17(3 Pt 2):807-11.
2000: Françoise Conte; Stéphane Diridollou; Béatrice Jouret; Virginie Turlier; Marie Charveron; Y Gall; Pierre Rochiccioli; Eric Bieth; Maïthé Tauber
Evaluation of cutaneous modifications in seventy-seven growth hormone-deficient children.
Hormone research 2000;54(2):92-7.
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.
1998: Maïthé Tauber; V Porra; F Dastot; Catherine Molinas; Serge Amselem; S Cholin; Pierre Rochiccioli; Eric Bieth
Heterozygous mutation in the WSXWS equivalaent motif of the growth hormone receptor in a child with poor response to growth hormone therapy.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society 1998;8(3):211-6.
1998: A Cance-Rouzaud; S Laborie; Eric Bieth; J Tricoire; M Rolland; Hélène Grandjean; Pierre Rochiccioli; Maïthé Tauber
Growth hormone, insulin-like growth factor-I and insulin-like growth factor binding protein-3 are regulated differently in small-for-gestational-age and appropriate-for-gestational-age neonates.
Biology of the neonate 1998;73(6):347-55.
1997: Catherine Pienkowski; Serge Lumbroso; Eric Bieth; Charles Sultan; Pierre Rochiccioli; Maïthé Tauber
Recurrent ovarian cyst and mutation of the Gs alpha gene in ovarian cyst fluid cells: what is the link with McCune-Albright syndrome?
Acta paediatrica (Oslo, Norway : 1992) 1997;86(9):1019-21.
1997: Eric Bieth; Claire Cahoreau; S Cholin; Catherine Molinas; Pierre Rochiccioli; Gérard Devauchelle; Maïthé Tauber
Human growth hormone receptor: cloning and expression of the full-length complementary DNA after site-directed inactivation of a cryptic bacterial promoter.
Gene 1997;194(1):97-105.
1996: S Cholin; Eric Bieth; Catherine Molinas; C Cahoreau; C Perals; M Cerruti; Gérard Devauchelle; P Rochiccioli; M Tauber
Expression of a recombinant human growth hormone binding protein in baculovirus/insect cell system.
Biochimie 1996;78(10):882-6.