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Delphine Héron

Research Profile

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Cyril Mignot; M Momtchilova; Sandra Whalen; Thierry Billette de Villemeur; Joseph Bursztyn; Delphine Héron; Anne Legall; Michèle Mayer; Lydie Burglen
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.
Marie Douniol; Bruno Eymard; Nathalie Angeard; Nicolas Bodeau; David Cohen; Jean-Marie Cuisset; Delphine Héron; Aurélia Jacquette; Monique Plaza; Linda Rachidi; Louis Vallée; Jean-Marc Guilé
Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1.
Essam Al Ageeli; Joseph Bursztyn; Nathalie Dorison; Béatrice Dubern; Blandine Esteva; Jean-François Le Gargasson; Michèle Mayer; Cyril Mignot; Marta Momtchilova; Sandra Whalen; Alexandra Afenjar; Delphine Héron
Retinal involvement in two unrelated patients with Myhre syndrome.

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All Publications

2013: Cyril Mignot; M Momtchilova; Sandra Whalen; Thierry Billette de Villemeur; Joseph Bursztyn; Delphine Héron; Anne Legall; Michèle Mayer; Lydie Burglen
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.
Brain & development 2013;35(2):172-6.
2012: Marie Douniol; Bruno Eymard; Nathalie Angeard; Nicolas Bodeau; David Cohen; Jean-Marie Cuisset; Delphine Héron; Aurélia Jacquette; Monique Plaza; Linda Rachidi; Louis Vallée; Jean-Marc Guilé
Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1.
Developmental medicine and child neurology 2012;54(10):905-11.
2012: Essam Al Ageeli; Joseph Bursztyn; Nathalie Dorison; Béatrice Dubern; Blandine Esteva; Jean-François Le Gargasson; Michèle Mayer; Cyril Mignot; Marta Momtchilova; Sandra Whalen; Alexandra Afenjar; Delphine Héron
Retinal involvement in two unrelated patients with Myhre syndrome.
European journal of medical genetics 2012;55(10):541-7.
2012: Jodi Warman Chardon; Delphine Héron; Anna Kaminska; Boris Keren; Cyril Mignot; Alexandra Afenjar; Swaroop Aradhya; Cherif Beldjord; Kym M Boycott
Deletion of filamin A in two female patients with periventricular nodular heterotopia.
American journal of medical genetics. Part A 2012;158A(6):1512-6.
2012: Alain Verloes; D Ville; Alexandra Afenjar; Nadia Bahi-Buisson; Clarisse Baumann; Thierry Billette de Villemeur; Lydie Burglen; Perrine Charles; Vincent des Portes; A Faudet; Delphine Héron; Aurélia Jacquette; Cyril Mignot; Marie-Laure Moutard; S Passemard; Marlène Rio; L Robel; C Rougeot
[Diagnostic investigations for an unexplained developmental disability].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2012;19(2):194-207.
2012: C Nava; D Périsse; A Rastetter; S Whalen; Alexandra Afenjar; T Bourgeron; D Bouteiller; A Brice; S Caillet; D Cohen; R Delorme; C Dupuits; A Faudet; C Gautier; M Gérard; C Gillberg; M Gilleron; Delphine Héron; G Huguet; Aurélia Jacquette; Boris Keren; F Lamari; C Laurent; M Leboyer; B Leheup; Cyril Mignot; Christel Depienne
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
Translational psychiatry 2012;2():e179.
2011: Cyril Mignot; Fanny Morice-Picard; Marie-Laure Moutard; Oriane Trouillard; Dorothée Ville; Benoît Arveiler; Perrine Charles; Catherine Chiron; Christel Depienne; Isabelle Gourfinkel-An; Aurélia Jacquette; Didier Lacombe; Eric LeGuern; Delphine Héron
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Epilepsia 2011;52(10):1820-7.
2011: Nathalie Angeard; Bruno Eymard; Marcela Gargiulo; Aurélia Jacquette; Sylvain Moutier; Hélène Radvanyi; Delphine Héron
A new window on neurocognitive dysfunction in the childhood form of myotonic dystrophy type 1 (DM1).
Neuromuscular disorders : NMD 2011;21(7):468-76.
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.
2010: Christel Depienne; Oriane Trouillard; Isabelle Gourfinkel-An; Cécile Saint-Martin; Delphine Bouteiller; Denis Graber; Marie-Anne Barthez-Carpentier; Agnès Gautier; Nathalie Villeneuve; Charlotte Dravet; Marie-Odile Livet; Clothilde Rivier-Ringenbach; Claude Adam; Sophie Dupont; Stéphanie Baulac; Delphine Héron; Rima Nabbout; Eric LeGuern
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Journal of medical genetics 2010;47(6):404-10.
2009: Marie Douniol; Aurélia Jacquette; Jean-Marc Guilé; Marie-Laure Tanguy; Nathalie Angeard; Delphine Héron; Monique Plaza; David Cohen
Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy.
European child & adolescent psychiatry 2009;18(12):705-15.
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: Fatma Daoud; Nathalie Angeard; Bénédicte Demerre; Itxaso Martie; Rabah Benyaou; France Leturcq; Mireille Cossée; Nathalie Deburgrave; Yoann Saillour; Sylvie Tuffery; Andoni Urtizberea; Annick Toutain; Bernard Echenne; Martine Frischman; Michèle Mayer; Isabelle Desguerre; Brigitte Estournet; Christian Réveillère; Jean Marie Cuisset; Jean-Claude Kaplan; Delphine Héron; François Rivier; Jamel Chelly
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
Human molecular genetics 2009;18(20):3779-94.
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: Nadia Bahi-Buisson; Eva Guttierrez-Delicado; Christine Soufflet; Marlène Rio; Valérie Cormier Daire; Didier Lacombe; Delphine Héron; Alain Verloes; Sameer M Zuberi; Lydie Burglen; Alexandra Afenjar; Marie-Laure Moutard; P Edery; Antonio Novelli; Laura Bernardini; Olivier Dulac; Rima Nabbout; Perrine Plouin; Agatino Battaglia
Spectrum of epilepsy in terminal 1p36 deletion syndrome.
Epilepsia 2008;49(3):509-15.
2007: Caroline Nava; Nadine Hanna; Caroline Michot; Sabrina Pereira; Nathalie Pouvreau; Tetsuya Niihori; Yoko Aoki; Yoichi Matsubara; Benoît Arveiler; Didier Lacombe; Eric Pasmant; Béatrice Parfait; Clarisse Baumann; Delphine Héron; Sabine Sigaudy; Annick Toutain; Marlène Rio; Alice Goldenberg; Bruno Leheup; Alain Verloes; Hélène Cavé
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
Journal of medical genetics 2007;44(12):763-71.
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: Caroline Demily; Solenn Legallic; Jacqueline Bou; Emmanuelle Houy-Durand; Therese van Amelsvoort; Janneke Zinkstok; Sylvie Manouvrier-Hanue; Annick Vogels; Valérie Drouin-Garraud; Nicole Philip; Anne Philippe; Delphine Héron; Pierre Sarda; Michel Petit; Florence Thibaut; Thierry Frébourg; Dominique Campion
ZDHHC8 single nucleotide polymorphism rs175174 is not associated with psychiatric features of the 22q11 deletion syndrome or schizophrenia.
Psychiatric genetics 2007;17(5):311-2.
2007: David Cohen; Claire Martel; Anna Wilson; Nicole Déchambre; Céline Amy; Ludovic Duverger; Jean-Marc Guile; Eva Pipiras; Brigitte Benzacken; Hélène Cavé; laurent cohen; Delphine Héron; Monique Plaza
Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q.
Journal of autism and developmental disorders 2007;37(8):1585-91.
2007: Nathalie Angeard; Marcela Gargiulo; Aurélia Jacquette; Hélène Radvanyi; Bruno Eymard; Delphine Héron
Cognitive profile in childhood myotonic dystrophy type 1: is there a global impairment?
Neuromuscular disorders : NMD 2007;17(6):451-8.
2007: Eric Pasmant; Ingrid Laurendeau; Delphine Héron; Michel Vidaud; Dominique Vidaud; Ivan Bièche
Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF.
Cancer research 2007;67(8):3963-9.
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: Alain Verloes; Dominique Bremond-Gignac; Bertrand Isidor; Albert David; Clarisse Baumann; Marie-Anne Leroy; René Stevens; Yves Gillerot; Delphine Héron; Bénédicte Héron; Brigitte Benzacken; Didier Lacombe; Han Brunner; Pierre Bitoun
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
American journal of medical genetics. Part A 2006;140(12):1285-96.
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.
2005: David Geneviève; Delphine Héron; Vincent El Ghouzzi; Catherine Prost-Squarcioni; Martine Le Merrer; Aurélia Jacquette; Damien Sanlaville; Florence Pinton; Nathalie Villeneuve; Gabriel Kalifa; Arnold Munnich; Valérie Cormier-Daire
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
European journal of human genetics : EJHG 2005;13(5):541-6.
2005: David Cohen; Nadège Pichard; Sylvie Tordjman; Clarisse Baumann; Lydie Burglen; Elsa Excoffier; Gabriela Lazar; Philippe Mazet; Clément Pinquier; Alain Verloes; Delphine Héron
Specific genetic disorders and autism: clinical contribution towards their identification.
Journal of autism and developmental disorders 2005;35(1):103-16.
2004: Philippe Charron; Delphine Héron; Marcela Gargiulo; Josué Feingold; Jean-François Oury; Pascale Richard; Michel Komajda
Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case.
Prenatal diagnosis 2004;24(9):701-3.
2003: Lydie Burglen; Delphine Héron; Alexandre Moerman; A Dieux-Coeslier; J-P Bourguignon; ALAIN BACHY; J-C Carel; Valérie Cormier-Daire; Sylvie Manouvrier; Alain Verloes
Myhre syndrome: new reports, review, and differential diagnosis.
Journal of medical genetics 2003;40(7):546-51.
2002: Philippe Charron; Delphine Héron; Marcela Gargiulo; Pascale Richard; Olivier Dubourg; Michel Desnos; Jean-Brieuc Bouhour; Josué Feingold; Lucie Carrier; Bernard Hainque; Ketty Schwartz; Michel Komajda
Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience.
Journal of medical genetics 2002;39(10):741-6.
2002: David Cohen; Gabriela Lazar; Philippe Couvert; Vincent Desportes; Didier Lippe; Philippe Mazet; Delphine Héron
MECP2 mutation in a boy with language disorder and schizophrenia.
The American journal of psychiatry 2002;159(1):148-9.
2001: Delphine Héron; C Bonnard; C Moraine; Annick Toutain
Agenesis of cruciate ligaments and menisci causing severe knee dysplasia in TAR syndrome.
Journal of medical genetics 2001;38(8):E27.
2001: C Pinquier; Delphine Héron; W de Carvalho; Gabriela Lazar; Philippe Mazet; David Cohen
[Microdeletion 22q11: apropos of case of schizophrenia in an adolescent].
L'Encéphale 2001;27(1):45-50.
1998: Pascale Saugier-Veber; Cosette Martin; Nathalie Le Meur; Stanislas LYONNET; A Munnich; Albert David; A Hénocq; Delphine Héron; Philippe Jonveaux; Sylvie Odent; Sylvie Manouvrier; Anne Moncla; N Morichon; N Philip; D Satge; Mario Tosi; Thierry Frébourg
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
Human mutation 1998;12(4):259-66.