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Dominique Bonneau

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Virginie Bubien; Olivier Caron; Frédéric Caux; Albert David; Capucine Delnatte; Catherine Dugast; P Edery; Jean-Pierre Fricker; Brigitte Gilbert-Dussardier; Stéphanie Hoppe; Valérie Layet; Michel Longy; Nicolas Sevenet; Emmanuelle Barouk-Simonet; Dominique Bonneau; Françoise Bonnet; Armand Bottani; Veronique Brouste
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
E Colin; M Ferry; Marion Gérard-Blanluet; Agnès Guichet; Jean-Marc Levaillant; A Mercier; Sylvie Odent; Laurent Pasquier; R Touraine; M Barth; Françoise Boussion; Dominique Bonneau
Binder phenotype in mothers affected with autoimmune disorders.
Estelle Colin; Bruno Delorme; Philippe Gillard; Agnès Guichet; Alain Kitzis; Stéphane Triau; Dominique Bonneau; Françoise Boussion; Frederic Bilan
Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.

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2013: Virginie Bubien; Olivier Caron; Frédéric Caux; Albert David; Capucine Delnatte; Catherine Dugast; P Edery; Jean-Pierre Fricker; Brigitte Gilbert-Dussardier; Stéphanie Hoppe; Valérie Layet; Michel Longy; Nicolas Sevenet; Emmanuelle Barouk-Simonet; Dominique Bonneau; Françoise Bonnet; Armand Bottani; Veronique Brouste
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
Journal of medical genetics 2013;50(4):255-63.
2012: E Colin; M Ferry; Marion Gérard-Blanluet; Agnès Guichet; Jean-Marc Levaillant; A Mercier; Sylvie Odent; Laurent Pasquier; R Touraine; M Barth; Françoise Boussion; Dominique Bonneau
Binder phenotype in mothers affected with autoimmune disorders.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2012;25(8):1413-8.
2012: Estelle Colin; Bruno Delorme; Philippe Gillard; Agnès Guichet; Alain Kitzis; Stéphane Triau; Dominique Bonneau; Françoise Boussion; Frederic Bilan
Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.
Prenatal diagnosis 2012;32(7):692-4.
2012: Arnaud Chevrollier; Valérie Desquiret-Dumas; Marc FERRE; Naïg Gueguen; Vincent Procaccio; Jennifer Alban; Patrizia Amati-Bonneau; Dominique Bonneau; Julien Cassereau; Pascal Reynier
Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function.
The international journal of biochemistry & cell biology 2012;44(6):980-8.
2011: Ali Houeijeh; Hubert Journel; Jean-Pierre Kerckaert; Jelana Martinovic; Pascale Saugier-Veber; Joris Andrieux; Mathilde Baux; Sophie Bisiaux; Dominique Bonneau; Caroline Chaffiotte; Albert David; Louise Devisme; Fabienne Escande; Marc Fouassier; Alice Goldenberg; Muriel Holder-Espinasse; Sylvie MANOUVRIER
Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.
European journal of medical genetics 2011;54(5):e471-7.
2011: Anne-Françoise Roux; Christel Vaché; Umberto Ambrosetti; David Baux; Thomas Besnard; Catherine Blanchet; Dominique Bonneau; Albert David; P Edery; Valérie Faugère; Brigitte Gilbert-Dussardier; Christian Hamel; Muriel Holder-Espinasse; Hubert Journel; Didier Lacombe; Susana Léonard; Geneviève Lina-Granade; Sue Malcolm; Michel Mondain; Mireille Claustres
Four-year follow-up of diagnostic service in USH1 patients.
Investigative ophthalmology & visual science 2011;52(7):4063-71.
2011: Sylvia Giraudet; Cédric Lamirel; Dan Miléa; Pascal Reynier; Patrizia Amati-Bonneau; Dominique Bonneau; Isabelle Cochereau
Never too old to harbour a young man's disease?
The British journal of ophthalmology 2011;95(6):887, 896-7.
2011: Virginie Guillet; Naïg Gueguen; Romain Cartoni; Arnaud Chevrollier; Valérie Desquiret; Claire Angebault; Patrizia Amati-Bonneau; Vincent Procaccio; Dominique Bonneau; Jean-Claude Martinou; Pascal Reynier
Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011;25(5):1618-27.
2011: J Cassereau; C Casasnovas; Naïg Gueguen; Marie-Claire Malinge; V Guillet; Pascal Reynier; Dominique Bonneau; Patrizia Amati-Bonneau; I Banchs; V Volpini; Vincent Procaccio; Arnaud Chevrollier
Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT.
Neurology 2011;76(17):1524-6.
2011: Dominique Bonneau
[Medical genetics consultation].
La Revue du praticien 2011;61(4):522-5.
2011: Elise Schaefer; Myriam Durand; Corinne Stoetzel; Bérénice Doray; Brigitte Viville; Sophie Hellé; Jean-Marc Danse; Christian Hamel; Pierre Bitoun; Alice Goldenberg; Sonia Finck; Laurence Faivre; Sabine Sigaudy; Muriel Holder; Marie-Claire Vincent; Vincent Marion; Dominique Bonneau; Alain Verloes; Israël Nisand; Jean-Louis Mandel; Hélène Dollfus
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
European journal of medical genetics 2011;54(2):157-60.
2011: Pauline Krug; Vincent Morinière; Sandrine Marlin; Valérie Koubi; Heinz D Gabriel; Estelle Colin; Dominique Bonneau; Rémi Salomon; Corinne Antignac; Laurence Heidet
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.
Human mutation 2011;32(2):183-90.
2011: Julien Cassereau; Arnaud Chevrollier; Vincent Procaccio; Pascal Reynier; Christophe Verny; Dominique Bonneau; Marc FERRE
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.
Orphanet journal of rare diseases 2011;6():87.
2011: Claire Angebault; Dominique Bonneau; Julien Cassereau; Arnaud Chevrollier; Valérie Desquiret-Dumas; Marc Ferre; Naïg Gueguen; Virginie Guillet; Dan Milea; Vincent Procaccio; Pascal Reynier; Christophe Verny; Patrizia Amati-Bonneau; Dominique Loiseau
Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.
BMC research notes 2011;4():557.
2011: Julien Cassereau; Arnaud Chevrollier; Naïg Gueguen; Valérie Desquiret; Christophe Verny; Guillaume Nicolas; Frédéric Dubas; Patrizia Amati-Bonneau; Pascal Reynier; Dominique Bonneau; Vincent Procaccio
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
Experimental neurology 2011;227(1):31-41.
2011: Christophe Verny; Naig Guegen; Valerie Desquiret; Arnaud Chevrollier; Adriana Prundean; Frédéric Dubas; Julien Cassereau; Marc Ferre; Patrizia Amati-Bonneau; Dominique Bonneau; Pascal Reynier; Vincent Procaccio
Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.
Mitochondrion 2011;11(1):70-5.
2010: C Scherer; Vincent Procaccio; M Ferre; V Guillet; Pascal Reynier; Patrizia Amati-Bonneau; Frédéric Dubas; Dominique Bonneau; Christophe Verny
[Hereditary optic atrophies].
Revue neurologique 2010;166(12):959-65.
2010: Guy Lenaers; Patrizia Amati-Bonneau; Cécile Delettre; Arnaud Chevrollier; Christophe Verny; Dan Miléa; Vincent Procaccio; Dominique Bonneau; Christian Hamel; Pascal Reynier
[From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders].
Médecine sciences : M/S 2010;26(10):836-41.
2010: Jean Muller; Corinne Stoetzel; M C Vincent; Carmen C Leitch; Virginie Laurier; Jean-Marc Danse; S Hellé; V Marion; V Bennouna-Greene; S Vicaire; A Megarbane; Josseline Kaplan; V Drouin-Garraud; M Hamdani; Sabine Sigaudy; C Francannet; J Roume; Pierre Bitoun; A Goldenberg; N Philip; S Odent; J Green; Mireille Cossée; Erica E Davis; Nicholas Katsanis; Dominique Bonneau; Alain Verloes; Olivier Poch; Jean-Louis Mandel; Hélène Dollfus
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Human genetics 2010;127(5):583-93.
2010: Virginie Guillet; Arnaud Chevrollier; Julien Cassereau; franck letournel; Naïg Gueguen; Laurence Richard; Valérie Desquiret; Christophe Verny; Vincent Procaccio; Patrizia Amati-Bonneau; Pascal Reynier; Dominique Bonneau
Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.
Mitochondrion 2010;10(2):115-24.
2010: Sylvie Jaillard; Séverine Drunat; Claude Bendavid; Azzedine Aboura; Amandine Etcheverry; Hubert Journel; Andrée Delahaye; Laurent Pasquier; Dominique Bonneau; Annick Toutain; Lydie Burglen; Agnès Guichet; Eva Pipiras; Brigitte Gilbert-Dussardier; Brigitte Benzacken; Dominique Martin-Coignard; Catherine Henry; Albert David; Josette Lucas; Jean Mosser; Véronique David; Sylvie Odent; Alain Verloes; Christèle Dubourg
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.
European journal of medical genetics 2010;53(2):66-75.
2010: M Priou-Guesdon; Marie-Claire Malinge; J-F Augusto; Patrice Rodien; JF Subra; Dominique Bonneau; Vincent Rohmer
Hypochloremia and hyponatremia as the initial presentation of cystic fibrosis in three adults.
Annales d'endocrinologie 2010;71(1):46-50.
2010: Dan Milea; Patrizia Amati-Bonneau; Pascal Reynier; Dominique Bonneau
Genetically determined optic neuropathies.
Current opinion in neurology 2010;23(1):24-8.
2010: Virginie Guillet; Naïg Gueguen; Christophe Verny; Marc Ferre; Chadi Homedan; Dominique Loiseau; Vincent Procaccio; Patrizia Amati-Bonneau; Dominique Bonneau; Pascal Reynier; Arnaud Chevrollier
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.
Neurogenetics 2010;11(1):127-33.
2009: Patrizia Amati-Bonneau; Dan Milea; Dominique Bonneau; Arnaud Chevrollier; Marc Ferré; Virginie Guillet; Naïg Gueguen; Dominique Loiseau; Marie-Anne Pou de Crescenzo; Christophe Verny; Vincent Procaccio; Guy Lenaers; Pascal Reynier
OPA1-associated disorders: phenotypes and pathophysiology.
The international journal of biochemistry & cell biology 2009;41(10):1855-65.
2009: Marc Ferré; Dominique Bonneau; Dan Milea; Arnaud Chevrollier; Christophe Verny; Hélène Dollfus; Carmen Ayuso; Sabine Defoort; Catherine Vignal; Xavier Zanlonghi; Jean-Francois Charlin; Josseline Kaplan; Sylvie Odent; Christian P Hamel; Vincent Procaccio; Pascal Reynier; Patrizia Amati-Bonneau
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Human mutation 2009;30(7):E692-705.
2009: Julien Cassereau; Arnaud Chevrollier; Naïg Gueguen; Marie-Claire Malinge; franck letournel; Guillaume Nicolas; Laurence Richard; Marc Ferre; Christophe Verny; Frédéric Dubas; Vincent Procaccio; Patrizia Amati-Bonneau; Dominique Bonneau; Pascal Reynier
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).
Neurogenetics 2009;10(2):145-50.
2009: Yannick NOCHEZ; Sophie Arsene; Naig Gueguen; Arnaud Chevrollier; Marc Ferré; Virginie Guillet; Valérie Desquiret; Annick Toutain; Dominique Bonneau; Vincent Procaccio; Patrizia Amati-Bonneau; Pierre-Jean Pisella; Pascal Reynier
Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.
Molecular vision 2009;15():598-608.
2008: Arnaud Chevrollier; Virginie Guillet; Dominique Loiseau; Naïg Gueguen; Marie-Anne Pou de Crescenzo; Christophe Verny; Marc Ferre; Hélène Dollfus; Sylvie Odent; Dan Milea; Cyril Goizet; Patrizia Amati-Bonneau; Vincent Procaccio; Dominique Bonneau; Pascal Reynier
Hereditary optic neuropathies share a common mitochondrial coupling defect.
Annals of neurology 2008;63(6):794-8.
2008: Anouck Schneider; Brigitte Benzacken; Agnès Guichet; Alain Verloes; Dominique Bonneau; Nathalie Collot; Florence Dastot-Le Moal; Michel Goossens; Laurence Taine; Emilie Landais; Dominique Gaillard; Martine Doco-Fenzy
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
European journal of human genetics : EJHG 2008;16(6):680-7.
2008: Karen Cornille; Dan Milea; Patrizia Amati-Bonneau; Vincent Procaccio; Lydie Zazoun; Virginie Guillet; Ghizlane El Achouri; Cécile Delettre; Naïg Gueguen; Dominique Loiseau; Agnès Muller; Marc FERRE; Arnaud Chevrollier; Douglas C Wallace; Dominique Bonneau; Christian Hamel; Pascal Reynier; Guy Lenaers
Reversible optic neuropathy with OPA1 exon 5b mutation.
Annals of neurology 2008;63(5):667-71.
2008: Christophe Verny; D Loiseau; C Scherer; P Lejeune; A Chevrollier; N Gueguen; V Guillet; Frédéric Dubas; Pascal Reynier; Patrizia Amati-Bonneau; Dominique Bonneau
Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy.
Neurology 2008;70(13 Pt 2):1152-3.
2008: Sandrine Marlin; Didier Lacombe; Laurence Jonard; Nicolas Leboulanger; Dominique Bonneau; Cyril Goizet; Thierry Billette de Villemeur; Sylvie Cabrol; Muriel Houang; L Moatti; Delphine Feldmann; Françoise Denoyelle
Perrault syndrome: report of four new cases, review and exclusion of candidate genes.
American journal of medical genetics. Part A 2008;146A(5):661-4.
2008: Isabelle Pénisson-Besnier; Thibaud Lebouvier; Marie-Pierre Moizard; Marc Ferré; Magalie Barth; Guillaume Marc; Martine Raynaud; Dominique Bonneau
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.
American journal of medical genetics. Part A 2008;146A(4):464-7.
2007: Christophe Verny; Philippe Allain; A Prudean; Marie-Claire Malinge; Bénédicte Gohier; C Scherer; Dominique Bonneau; Frédéric Dubas; Didier Le Gall
Cognitive changes in asymptomatic carriers of the Huntington disease mutation gene.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2007;14(12):1344-50.
2007: Pascale Saugier-Veber; Céline Bonnet; Alexandra Afenjar; Valérie Drouin-Garraud; Christine Coubes; Séverine Fehrenbach; Muriel Holder-Espinasse; Joelle Roume; valerie malan; Marie-France Portnoi; Nicolas Jeanne; Clarisse Baumann; Delphine Héron; Albert David; Marion Gérard; Dominique Bonneau; Didier Lacombe; Valérie Cormier-Daire; Thierry Billette de Villemeur; Thierry Frébourg; Lydie Bürglen
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Human mutation 2007;28(11):1098-107.
2007: David Baux; Lise Larrieu; Catherine Blanchet; Christian Hamel; Safouane Ben Salah; Anne Vielle; Brigitte Gilbert-Dussardier; Muriel Holder; Patrick Calvas; Nicole Philip; P Edery; Dominique Bonneau; Mireille Claustres; Sue Malcolm; Anne-Françoise Roux
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
Human mutation 2007;28(8):781-9.
2007: Aurélien Olichon; Thomas Landes; Laetitia Arnauné-Pelloquin; Laurent J Emorine; Valérie Mils; Agnès Guichet; Cécile Delettre; Christian Hamel; Patrizia Amati-Bonneau; Dominique Bonneau; Pascal Reynier; Guy Lenaers; Pascale Belenguer
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.
Journal of cellular physiology 2007;211(2):423-30.
2007: Dominique Loiseau; Arnaud Chevrollier; Christophe Verny; Virginie Guillet; Naïg Gueguen; Marie-Anne Pou de Crescenzo; Marc FERRE; Marie-Claire Malinge; Agnès Guichet; Guillaume Nicolas; Patrizia Amati-Bonneau; Yves Malthièry; Dominique Bonneau; Pascal Reynier
Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease.
Annals of neurology 2007;61(4):315-23.
2007: Dominique Marchant; K Yu; Karine Bigot; Olivier Roche; A Germain; Dominique Bonneau; Valérie Drouin-Garraud; Daniel F Schorderet; Francis Munier; D Schmidt; P Le Neindre; Cécile Marsac; Maurice Menasche; Jean-Louis Dufier; Rodolphe Fischmeister; H Criss Hartzell; marc Mordekhaï ABITBOL
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.
Journal of medical genetics 2007;44(3):e70.
2007: Corinne Stoetzel; Jean Muller; Virginie Laurier; Erica E Davis; Norann Zaghloul; Serge Vicaire; Cecile Jacquelin; Frédéric Plewniak; Carmen C Leitch; Pierre Sarda; Christian Hamel; T J L de Ravel; Richard Alan Lewis; Evelyne Friederich; Christelle Thibault; Jean-Marc Danse; Alain Verloes; Dominique Bonneau; Nicholas Katsanis; Olivier Poch; Jean-Louis Mandel; Hélène Dollfus
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
American journal of human genetics 2007;80(1):1-11.
2006: Hélène Dollfus; Jean Muller; Corinne Stoetzel; Virginie Laurier; Dominique Bonneau; André Mégarbané; Olivier Poch; Jean-Louis Mandel
[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].
Médecine sciences : M/S 2006;22(11):901-4.
2006: Christophe Verny; Adriana Prundean; Guillaume Nicolas; Vivien Pautot; Dominique Maugin; Thierry Levade; Dominique Bonneau; Frédéric Dubas
Refsum's disease may mimic familial Guillain Barre syndrome.
Neuromuscular disorders : NMD 2006;16(11):805-8.
2006: Virginie Laurier; Corinne Stoetzel; Jean Muller; Christelle Thibault; Sandra Corbani; Nadine Jalkh; Nabiha Salem; Eliane Chouery; Olivier Poch; Serge Licaire; Jean-Marc Danse; Patrizia Amati-Bonneau; Dominique Bonneau; André Mégarbané; Jean-Louis Mandel; Hélène Dollfus
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
European journal of human genetics : EJHG 2006;14(11):1195-203.
2006: Aurélien Olichon; Emmanuelle Guillou; Cécile Delettre; Thomas Landes; Laetitia Arnauné-Pelloquin; Laurent J Emorine; Valérie Mils; Marlène Daloyau; Christian Hamel; Patrizia Amati-Bonneau; Dominique Bonneau; Pascal Reynier; Guy Lenaers; Pascale Belenguer
Mitochondrial dynamics and disease, OPA1.
Biochimica et biophysica acta 2006;1763(5-6):500-9.
2006: Hélène Mayeur; Olivier Roche; Christelle Vêtu; Carolina Jaliffa; Dominique Marchant; Hélène Dollfus; Dominique Bonneau; Francis L Munier; Daniel F Schorderet; Alex V Levin; Elise Héon; Joanne Sutherland; Didier Lacombe; Edith Said; Eedy Mezer; Josseline Kaplan; Jean-Louis Dufier; Cécile Marsac; Maurice Menasche; marc Mordekhaï ABITBOL
Eight previously unidentified mutations found in the OA1 ocular albinism gene.
BMC medical genetics 2006;7():41.
2006: Corinne Stoetzel; Virginie Laurier; Laurence Faivre; André Mégarbané; Fabienne Perrin-Schmitt; Alain Verloes; Dominique Bonneau; Jean-Louis Mandel; Mireille Cossee; Hélène Dollfus
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
Journal of human genetics 2006;51(1):81-4.
2005: Patrizia Amati-Bonneau; Agnès Guichet; Aurélien Olichon; Arnaud Chevrollier; Frédérique Viala; Stéphanie Miot; Carmen Ayuso; Sylvie Odent; Catherine Arrouet; Christophe Verny; Marie-Noelle Calmels; Gilles Simard; Pascale Belenguer; Jing Wang; Jean-Luc Puel; Christian Hamel; Yves Malthièry; Dominique Bonneau; Guy Lenaers; Pascal Reynier
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.
Annals of neurology 2005;58(6):958-63.
2005: Haifa Hichri; Corinne Stoetzel; Virginie Laurier; Solenne Caron; Sabine Sigaudy; Pierre Sarda; Christian Hamel; Dominique Martin-Coignard; Morin Gilles; Bruno Leheup; Mureille Holder; Josseline Kaplan; Pierre Bitoun; Didier Lacombe; Alain Verloes; Dominique Bonneau; Fabienne Perrin-Schmitt; Christian Brandt; Anne-Françoise Besancon; Jean-Louis Mandel; Mireille Cossée; Hélène Dollfus
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
European journal of human genetics : EJHG 2005;13(5):607-16.
2005: Christophe Verny; Patrizia Amati-Bonneau; Frédéric Dubas; Yves Malthiéry; Pascal Reynier; Dominique Bonneau
[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs].
Revue neurologique 2005;161(4):451-4.
2005: Dominique Brémond-Gignac; John A Crolla; Henri Copin; Agnès Guichet; Dominique Bonneau; Laurence Taine; Didier Lacombe; Clarisse Baumann; Brigitte Benzacken; Alain Verloes
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.
European journal of human genetics : EJHG 2005;13(4):409-13.
2005: Philippe Allain; Christophe Verny; Ghislaine Aubin; Karine Pinon; Dominique Bonneau; Frédéric Dubas; Didier Le Gall
Arithmetic word-problem-solving in Huntington's disease.
Brain and cognition 2005;57(1):1-3.
2005: Hélène Dollfus; Alain Verloes; Dominique Bonneau; Mireille Cossée; Fabienne Perrin-Schmitt; Christian Brandt; Jacques Flament; Jean-Louis Mandel
[Update on Bardet-Biedl syndrome].
Journal français d'ophtalmologie 2005;28(1):106-12.
2005: Patrizia Amati-Bonneau; Laurent Pasquier; E Lainey; Marc FERRE; Sylvie Odent; Yves Malthièry; Dominique Bonneau; Pascal Reynier
Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1.
Clinical genetics 2005;67(1):102-3.
2005: C Lepinard; Régis Coutant; Françoise Boussion; D Loisel; Bruno Delorme; Florence Biquard; Dominique Bonneau; Agnès Guichet; Philippe Descamps
Prenatal diagnosis of absence of the septum pellucidum associated with septo-optic dysplasia.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2005;25(1):73-5.
2004: Dominique Bonneau; Agnès Guichet; Françoise Boussion; Catherine Lépinard; Florence Biquard; Philippe Descamps
Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia.
American journal of medical genetics. Part A 2004;131(2):204.
2004: Boris Keren; A Hadchouel; S Saba; Yves Sznajer; Dominique Bonneau; Bruno Leheup; Odile Boute; D Gaillard; Didier Lacombe; Valérie Layet; Sandrine Marlin; Geert R Mortier; Annick Toutain; C Beylot; Clarisse Baumann; Alain Verloes; Hélène Cavé
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
Journal of medical genetics 2004;41(11):e117.
2004: Frédérique Gatelais; Jacques Berthelot; Frédérique Beringue; Philippe Descamps; Dominique Bonneau; Jean-Marie Limal; Régis Coutant
Effect of single and multiple courses of prenatal corticosteroids on 17-hydroxyprogesterone levels: implication for neonatal screening of congenital adrenal hyperplasia.
Pediatric research 2004;56(5):701-5.
2004: Agnès Guichet; Stéphane Triau; Catherine Lépinard; Chantal Esculapavit; Florence Biquard; Philippe Descamps; Férechté Encha-Razavi; Dominique Bonneau
Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2.
Prenatal diagnosis 2004;24(10):828-32.
2004: Bruno Mortemousque; Patrizia Amati-Bonneau; François Couture; Rodolphe Graffan; Stéphane Dubois; Joseph Colin; Dominique Bonneau; Jean Morissette; Didier Lacombe; Vincent Raymond
Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family.
Archives of ophthalmology 2004;122(10):1527-33.
2004: Dominique Bonneau; Christophe Verny; J Uzé
[Genetics of specific language impairments].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2004;11(10):1213-6.
2004: Pascal Reynier; Patrizia Amati-Bonneau; Christophe Verny; Aurélien Olichon; Gilles Simard; Agnès Guichet; C Bonnemains; François Malecaze; Marie-Claire Malinge; J B Pelletier; Patrick Calvas; Hélène Dollfus; Pascale Belenguer; Yves Malthièry; Guy Lenaers; Dominique Bonneau
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
Journal of medical genetics 2004;41(9):e110.
2004: Karmen Stankov; pastore alessandro; Luca Toschi; James McKay; Fabienne LESUEUR; Jean-Louis Kraimps; Dominique Bonneau; Hélène Gibelin; Pierre Levillain; Marco Volante; Mauro Papotti; Giovanni Romeo
Allelic loss on chromosomes 2q21 and 19p 13.2 in oxyphilic thyroid tumors.
International journal of cancer. Journal international du cancer 2004;111(3):463-7.
2004: Louis Viollet; Mohamed Zarhrate; Isabelle Maystadt; Brigitte Estournet-Mathiaut; Annie Barois; Isabelle Desguerre; Michèle Mayer; Brigitte Chabrol; Bruno Leheup; Veronica Cusin; Thierry Billette de Villemeur; Dominique Bonneau; Pascale Saugier-Veber; Anne Touzery-De Villepin; Anne Delaubier; Jocelyne Kaplan; Marc Jeanpierre; JOSUE FEINGOLD; Arnold Munnich
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
European journal of human genetics : EJHG 2004;12(6):483-8.
2004: Philippe Allain; Christophe Verny; Ghislaine Aubin; Dominique Bonneau; Frédéric Dubas; Didier Le Gall
[Processing of "scripts" and frontal lobe function in Huntington's disease].
Revue neurologique 2004;160(4 Pt 1):434-40.
2004: Fabienne Giuliano; Albert David; P Edery; Sabine Sigaudy; Dominique Bonneau; Valérie Cormier-Daire; Nicole Philip
Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.
American journal of medical genetics. Part A 2004;126A(1):99-103.
2003: Patrizia Amati-Bonneau; Sylvie Odent; Christelle Derrien; Laurent Pasquier; Yves Malthiéry; Pascal Reynier; Dominique Bonneau
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.
American journal of ophthalmology 2003;136(6):1170-1.
2003: Olivier Baris; Cécile Delettre; Patrizia Amati-Bonneau; Marie-Odile Surget; Jean-François Charlin; Antoine Catier; Laurence Derieux; Jean-Laurent Guyomard; Hélène Dollfus; Philippe Jonveaux; Carmen Ayuso; Irene H Maumenee; Birgit Lorenz; Shehla Mohammed; Yves Tourmen; Dominique Bonneau; Yves Malthièry; Christian Hamel; Pascal Reynier
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
Human mutation 2003;21(6):656.
2003: Hélène Jacquet; J Berthelot; C Bonnemains; Gilles Simard; Pascale Saugier-Veber; Gregory RAUX; Dominique Campion; Dominique Bonneau; Thierry Frebourg
The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene.
Journal of medical genetics 2003;40(1):e7.
2002: Marie-Claire Vincent; Mireille Cossée; Pierre VABRES; Fiona Stewart; Dominique Bonneau; Patrick Calvas
Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia.
Archives of dermatology 2002;138(9):1256-8.
2002: Pierre VABRES; Dominique Bonneau; Marc Larrègue
Absence of Lisch nodules in sporadic neurofibromatosis type 1 may reflect somatic mosaicism.
Archives of dermatology 2002;138(6):839-40; author reply 840.
2002: Pierre VABRES; Marie-Claire Malinge; Marc Larrègue; Dominique Bonneau
Microchimerism from a dizygotic twin in juvenile ulcerative lichen planus.
Lancet 2002;359(9320):1861-2.
2002: Dominique Bonneau; Annick Toutain; Annie Laquerrière; Stéphane Marret; Pascale Saugier-Veber; Marie-Anne Barthez; Sophie Radi; Valérie Biran-Mucignat; Diana Rodriguez; Antoinette Gélot
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings.
Annals of neurology 2002;51(3):340-9.
2001: F Giraudeau; Laurence Taine; Valérie Biancalana; Bruno Delobel; Hubert Journel; Chantal Missirian; Didier Lacombe; Dominique Bonneau; Philippe Parent; D Aubert; Yolande Hauck; Marie-Françoise Croquette; Annick Toutain; Marie-Geneviève Mattei; H A Loiseau; A David; Gilles Vergnaud
Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation.
Journal of medical genetics 2001;38(2):121-5.
2001: Laura Crisponi; Manila Deiana; A Loi; Francesca Chiappe; Manuela Uda; P Amati; Luigi Bisceglia; Leopoldo Zelante; Ramaiah Nagaraja; Susanna Porcu; Maria Serafina Ristaldi; R Marzella; Mariano Rocchi; M Nicolino; A Lienhardt-Roussie; A Nivelon; Alain Verloes; David Schlessinger; Paolo Gasparini; Dominique Bonneau; Antonio Cao; Giuseppe Pilia
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Nature genetics 2001;27(2):159-66.
2000: R Sarfati; A Hubert; M Dugué-Maréchaud; Valérie Biran-Mucignat; F Pierre; Dominique Bonneau
Prenatal diagnosis of Gaucher's disease type 2. Ultrasonographic, biochemical and histological aspects.
Prenatal diagnosis 2000;20(4):340-3.
2000: Luciano Merlini; Jean-Claude Kaplan; C Navarro; Annie Barois; Dominique Bonneau; J Brasa; B Echenne; Pía Gallano; L Jarre; Marc Jeanpierre; Luba Kalaydjieva; France Leturcq; A Levi-Gomes; Annick Toutain; Ivailo Tournev; Andoni Urtizberea; J M Vallat; T Voit; J M Warter
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.
Neurology 2000;54(5):1075-9.
2000: Dominique Bonneau; Valérie Biran-Mucignat
[Indications for chromosome and DNA analysis for diagnosis of genetic diseases].
La Revue du praticien 2000;50(2):203-8.
1999: Jean-Louis Kraimps; Federico Canzian; C Jost; Emmanuelle Menet; P Amati; P Levillian; R Harach; Fabienne LESUEUR; Jacques Barbier; Giovanni Romeo; Dominique Bonneau
Mapping of a gene predisposing to familial thyroid tumors with cell oxyphilia to chromosome 19 and exclusion of JUN B as a candidate gene.
Surgery 1999;126(6):1188-94.
1999: HR Harach; Isabelle Soubeyran; A Brown; Dominique Bonneau; Michel Longy
Thyroid pathologic findings in patients with Cowden disease.
Annals of diagnostic pathology 1999;3(6):331-40.
1999: HR Harach; Fabienne LESUEUR; P Amati; A Brown; Federico Canzian; Jean-Louis Kraimps; Pierre Levillain; Emmanuelle Menet; Giovanni Romeo; Dominique Bonneau
Histology of familial thyroid tumours linked to a gene mapping to chromosome 19p13.2.
The Journal of pathology 1999;189(3):387-93.
1999: Dominique Bonneau; Joelle Roume; M Gonzalez; Annick Toutain; D Carles; M Maréchaud; Valérie Biran-Mucignat; P Amati; C Moraine
Splenogonadal fusion limb defect syndrome: report of five new cases and review.
American journal of medical genetics 1999;86(4):347-58.
1999: Dominique Bonneau; M Maréchaud; S Odent; I Piegay; A Godard; P Amati
Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses.
American journal of medical genetics 1999;84(4):373-6.
1998: Federico Canzian; P Amati; HR Harach; Jean-Louis Kraimps; Fabienne LESUEUR; Jacques Barbier; Pierre Levillain; Giovanni Romeo; Dominique Bonneau
A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2.
American journal of human genetics 1998;63(6):1743-8.
1998: Michel Longy; V Coulon; B Duboué; A David; Marc Larrègue; Charis Eng; P Amati; Jean-Louis Kraimps; A Bottani; D Lacombe; Dominique Bonneau
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
Journal of medical genetics 1998;35(11):886-9.
1998: Luigi Bisceglia; L D'Ambrosio; Maria Rosaria Piemontese; Massimo Carella; P Amati; Dominique Bonneau; Giuseppe Pilia; Paolo Gasparini; Leopoldo Zelante
Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene.
Molecular and cellular probes 1998;12(4):255-8.
1997: Jean-Louis Kraimps; MH Bouin-Pineau; P Amati; Denis Mothes; Dominique Bonneau; Richard Maréchaud; Jacques Barbier
Familial papillary carcinoma of the thyroid.
Surgery 1997;121(6):715-8.
1997: Maria Rosaria Piemontese; E Memeo; Massimo Carella; P Amati; J C Chomel; Dominique Bonneau; Giuseppe Pilia; Antonio Cao; Harry A Drabkin; Robert M Gemmill; JM Rommens; Leopoldo Zelante; Paolo Gasparini; Luigi Bisceglia
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.
European journal of human genetics : EJHG 1997;5(3):171-4.
1996: P Amati; Paolo Gasparini; J Zlotogora; Leopoldo Zelante; Jean-Claude Chomel; Alain Kitzis; J Kaplan; Dominique Bonneau
A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23.
American journal of human genetics 1996;58(5):1089-92.
1995: P Amati; Jean-Claude Chomel; A Nivelon-Chevalier; S Gilgenkrantz; Alain Kitzis; J Kaplan; Dominique Bonneau
A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.
Human genetics 1995;96(2):213-5.
1991: Dominique Bonneau; M Berthier; M Maréchaud; P Levillain; C Fleury; F Vige; M Tran; G Magnin
[Human parvovirus B19 infection during pregnancy. 2 cases].
Journal de gynécologie, obstétrique et biologie de la reproduction 1991;20(8):1109-14.