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Annick Toutain

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Camille Leroy; Jacques Motte; Monique Mozelle-Nivoix; Francine Mugneret; Agathe Paubel; Pascal Sabouraud; Laurence Taine; Olivier Tassy; Christel Thauvin-Robinet; Annick Toutain; Stéphanie Arpin; Nathalie Bednarek; Mylène Beri; Sylvain Briault; Olivier Brichet; Albert David; Bruno Delobel; Marie-Ange Delrue; Caroline Fiquet; Dominique Gaillard; Nathalie Golovkine; Marie-José Grégoire; Nicolas Gruchy; Philippe Jonveaux; Didier Lacombe; Emilie Landais; Cédric Le Caignec; Bruno Leheup; Nathalie Leporrier; Martine Doco-Fenzy
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Julien Thevenon; Annick Toutain; Joris Andrieux; Marlène Bonnet; Patrick Callier; Virginie Carmignac; Jill Clayton-Smith; Albert David; Bruno Delobel; Sandra Farrell; Lorraine Gaunt; Cédric Le Caignec; Fabienne Levy; N Marle; Alice Masurel-Paulet; Delphine Minot; Laure Mosca Anne; Francine Mugneret; Damien Sanlaville; Sylvie Sukno; Christel Thauvin-Robinet; Laurence Faivre
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
Gaelle Thierry; Ann-Charlotte Thuresson; Bassim Tou; Annick Toutain; Bregje W M van Bon; Corinne Metay; Laurent Pasquier; Agathe Paubel; Olivier Pichon; Françoise Popelard; Marie-Pierre Quéré; Caroline Rooryck; Cecilia Soussi-Zander; Benoît Arveiler; Claire Bénéteau; Mylène Béri; Céline Bonnet; Dorothée Cailley; Albert David; Bert B A de Vries; Marie-Ange Delrue; Laetitia Duboscq-Bidot; Christèle Dubourg; Anne Dusser; Elisabeth Flori; Bertrand Isidor; Sylvie Jaillard; Philippe Jonveaux; Didier Lacombe; Cédric Le Caignec
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

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2013: Camille Leroy; Jacques Motte; Monique Mozelle-Nivoix; Francine Mugneret; Agathe Paubel; Pascal Sabouraud; Laurence Taine; Olivier Tassy; Christel Thauvin-Robinet; Annick Toutain; Stéphanie Arpin; Nathalie Bednarek; Mylène Beri; Sylvain Briault; Olivier Brichet; Albert David; Bruno Delobel; Marie-Ange Delrue; Caroline Fiquet; Dominique Gaillard; Nathalie Golovkine; Marie-José Grégoire; Nicolas Gruchy; Philippe Jonveaux; Didier Lacombe; Emilie Landais; Cédric Le Caignec; Bruno Leheup; Nathalie Leporrier; Martine Doco-Fenzy
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
European journal of human genetics : EJHG 2013;21(6):602-12.
2013: Julien Thevenon; Annick Toutain; Joris Andrieux; Marlène Bonnet; Patrick Callier; Virginie Carmignac; Jill Clayton-Smith; Albert David; Bruno Delobel; Sandra Farrell; Lorraine Gaunt; Cédric Le Caignec; Fabienne Levy; N Marle; Alice Masurel-Paulet; Delphine Minot; Laure Mosca Anne; Francine Mugneret; Damien Sanlaville; Sylvie Sukno; Christel Thauvin-Robinet; Laurence Faivre
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
European journal of human genetics : EJHG 2013;21(1):82-8.
2012: Gaelle Thierry; Ann-Charlotte Thuresson; Bassim Tou; Annick Toutain; Bregje W M van Bon; Corinne Metay; Laurent Pasquier; Agathe Paubel; Olivier Pichon; Françoise Popelard; Marie-Pierre Quéré; Caroline Rooryck; Cecilia Soussi-Zander; Benoît Arveiler; Claire Bénéteau; Mylène Béri; Céline Bonnet; Dorothée Cailley; Albert David; Bert B A de Vries; Marie-Ange Delrue; Laetitia Duboscq-Bidot; Christèle Dubourg; Anne Dusser; Elisabeth Flori; Bertrand Isidor; Sylvie Jaillard; Philippe Jonveaux; Didier Lacombe; Cédric Le Caignec
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
American journal of medical genetics. Part A 2012;158A(7):1633-40.
2012: Andrée Delahaye; Séverine Drunat; Céline Dupont; Jacques Elion; Laurence Faivre; Frédérique Gatelais; Marion Gérard-Blanluet; Pierre Gressens; Sophie Kaltenbach; Marie Legendre; Sandrine Passemard; Eva Pipiras; Samuel Quentin; AC Tabet; Annick Toutain; Alain Verloes; Azzedine Aboura; Serge Amselem; Pierre Bitoun; Nicolas Chassaing; Brigitte Benzacken
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
European journal of human genetics : EJHG 2012;20(5):527-33.
2012: Juliette Piard; Eve Puzenat; Marlène Rio; Marc Tardieu; Annick Toutain; Pierre VABRES; Bernard Aral; Didier Bessis; Odile Boute; Patrick Callier; Benoît Catteau; Laurence Faivre; Jerôme Franques; Nadège Gigot; Alice Goldenberg; Lucie Gueneau; Muriel Holder-Espinasse; Frédéric Huet; Kay MacDermot; Christel Thauvin-Robinet
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
European journal of medical genetics 2012;55(1):8-11.
2011: Cyril Goizet; Didier Hannequin; Didier Lacombe; Eric LeGuern; Stanislas Lyonnet; Marie-Laure Martin-Négrier; Emeline Mundwiller; Elisabeth Ollagnon-Roman; Anne-Marie Ouvrard-Hernandez; Julie Pilliod; Jean-François Pinel; Rodrigue Rossignol; Guilhem Solé; Giovanni Benard; Amir Boukhris; Alexis Brice; Cécile Cazeneuve; Perrine Charles; Isabelle Coupry; Christel Depienne; Alexandra Durr; Christel Dussert; Estelle Fedirko; Imed Feki; Bertrand Fontaine; Sylvie Forlani; Annick Toutain; Jacqueline Yaouanq; Giovanni Stevanin
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Human mutation 2011;32(10):1118-27.
2011: Christèle Dubourg; Damien Sanlaville; Martine Doco-Fenzy; Cédric Le Caignec; Chantal Missirian; Sylvie Jaillard; Caroline Schluth-Bolard; Emilie Landais; Odile Boute; Nicole Philip; Annick Toutain; Albert David; P Edery; Anne Moncla; Dominique Martin-Coignard; Catherine Vincent-Delorme; Isabelle Mortemousque; Bénédicte Duban-Bedu; Sèverine Drunat; Mylène Beri; Jean Mosser; Sylvie Odent; Véronique David; Joris Andrieux
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
European journal of medical genetics 2011;54(2):144-51.
2010: Didier Lacombe; Marie-Ange Delrue; Caroline Rooryck; Fanny Morice-Picard; Benoît Arveiler; Brigitte Maugey-Laulom; Stefan Mundlos; Annick Toutain; Jean-François Chateil
Brachydactyly type A1 with short humerus and associated skeletal features.
American journal of medical genetics. Part A 2010;152A(12):3016-21.
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: Myriam Vezain; Pascale Saugier-Veber; Elisa Goina; Renaud Touraine; Véronique Manel; Annick Toutain; Séverine Fehrenbach; Thierry Frébourg; Franco Pagani; Mario Tosi; Alexandra Martins
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy.
Human mutation 2010;31(1):E1110-25.
2009: Judith Calvo; Benoît Funalot; Robert Ouvrier; Leila Lazaro; Annick Toutain; Philippe De Mas; Pierre Bouche; Brigitte Gilbert-Dussardier; Marie-Christine Arne-Bes; Jean-Pierre Carrière; Hubert Journel; Marie-Christine Minot-Myhie; Claire Guillou; Karima Ghorab; Laurent Magy; Franck G Sturtz; Jean-Michel Vallat; Corinne Magdelaine
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
Archives of neurology 2009;66(12):1511-6.
2009: G Solé; Isabelle Coupry; Caroline Rooryck; E Guérineau; F Martins; S Devés; C Hubert; N Souakri; O Boute; C Marchal; L Faivre; E Landré; S Debruxelles; A Dieux-Coeslier; C Boulay; S Chassagnon; V Michel; M-C Routon; Annick Toutain; N Philip; Didier Lacombe; L Villard; B Arveiler; C Goizet
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.
Journal of neurology, neurosurgery, and psychiatry 2009;80(12):1394-8.
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.
2009: Yoann Saillour; Nathalie Carion; Chloé Quelin; Pierre-Louis Leger; Nathalie Boddaert; Caroline Elie; Annick Toutain; Sandra Mercier; Marie-Anne Barthez; Mathieu Milh; Sylvie Joriot; Vincent des Portes; Nicole Philip; Dominique Broglin; Agathe Roubertie; Gaelle Pitelet; Marie-Laure Moutard; Jean-Marc Pinard; Claude Cances; Anna Kaminska; Jamel Chelly; Cherif Beldjord; Nadia Bahi-Buisson
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
Archives of neurology 2009;66(8):1007-15.
2009: Fabienne Clot; David Grabli; Cécile Cazeneuve; Emmanuel Roze; Pierre Castelnau; Brigitte Chabrol; Pierre Landrieu; Karine Nguyen; Gérard Ponsot; Myriem Abada; Diane Doummar; Philippe Damier; Roger Gil; Stéphane Thobois; Alana J Ward; Michael Hutchinson; Annick Toutain; Fabienne Picard; Agnès Camuzat; Estelle Fedirko; Chankannira Sân; Delphine Bouteiller; Eric LeGuern; Alexandra Durr; Marie Vidailhet; Alexis Brice
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Brain : a journal of neurology 2009;132(Pt 7):1753-63.
2008: Thomas Jouary; Cyril Goizet; Isabelle Coupry; Isabelle Redonnet-Vernhet; Thierry Levade; Ingrid Burgelin; Annick Toutain; Emmanuel Delaporte; Claire Douillard; Didier Lacombe; Alain Taieb; Benoît Arveiler
Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.
The Journal of investigative dermatology 2008;128(2):322-5.
2007: Nadege Bondurand; Florence Dastot-Le Moal; Laure Stanchina; Nathalie Collot; Viviane Baral; Sandrine Marlin; Tania Attie-Bitach; Irina Giurgea; Laurent Skopinski; William Reardon; Annick Toutain; Pierre Sarda; Anis Echaieb; Marilyn Lackmy-Port-Lis; Renaud Touraine; Jeanne Amiel; Michel Goossens; Veronique Pingault
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
American journal of human genetics 2007;81(6):1169-85.
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: Boris Keren; Céline Bernardin; Annick Toutain; Delphine Heron; Bernard Fouquet; Béatrice Laudier; Louise Telvi; Serge Romana; Michel Vekemans; Damien Sanlaville
Pure proximal deletion of chromosome 21 and kyphosis.
European journal of medical genetics 2007;50(6):469-74.
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: 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: Denis Duboc; Christophe Meune; Bertrand Pierre; Karim Wahbi; Bruno Eymard; Annick Toutain; Carole Berard; Guy Vaksmann; Simon Weber; Henri-Marc Bécane
Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up.
American heart journal 2007;154(3):596-602.
2007: Rabah Ben Yaou; Annick Toutain; Takuro Arimura; Laurence Demay; Catherine Massart; Cécile Peccate; Antoine Muchir; Stéphane Llense; Nathalie Deburgrave; France Leturcq; K E Litim; N Rahmoun-Chiali; Pascale Richard; D Babuty; D Récan-Budiartha; Gisèle Bonne
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
Neurology 2007;68(22):1883-94.
2007: Claire Desselle; Philippe Herve; Annick Toutain; Hubert Lardy; Catherine Sembely; Franck Perrotin
Pentalogy of Cantrell: sonographic assessment.
Journal of clinical ultrasound : JCU 2007;35(4):216-20.
2007: Isabelle Pénisson-Besnier; Nicole Monnier; Annick Toutain; Frédéric Dubas; Nigel Laing
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.
Neuromuscular disorders : NMD 2007;17(4):330-7.
2007: Mylène Béri-Deixheimer; Marie-José Gregoire; Annick Toutain; Karène Brochet; Sylvain Briault; Jean-Luc Schaff; Bruno Leheup; Philippe Jonveaux
Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.
European journal of human genetics : EJHG 2007;15(4):446-52.
2007: Valérie Pelletier; Marguerite Jambou; Nathalie Delphin; Elena Zinovieva; Morgane Stum; Nadine Gigarel; Hélène Dollfus; Christian Hamel; Annick Toutain; Jean-Louis Dufier; Olivier Roche; Arnold Munnich; Jean-Paul Bonnefont; Josseline Kaplan; Jean-Michel Rozet
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Human mutation 2007;28(1):81-91.
2006: Jean Philippe Cottier; Annick Toutain; Caroline Hommet; Catherine Sembely; M Bosq; N Texier; Denis Herbreteau; Dominique Sirinelli
[Cortical malformations and epilepsy: Role of MR imaging].
Journal de radiologie 2006;87(11 Pt 1):1621-34.
2006: E Bonnemaison; B Roze-Abert; G Lorette; Dominique Sirinelli; M Boscq; S Mazjoub; B De Courtivron; C Bonnard; F Despert; Annick Toutain; J Maheut-Lourmière; Marie-Anne Barthez; Pierre Castelnau
[Neurofibromatosis type 1 complications in the pediatric age: follow-up of a hundred cases].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2006;13(7):1009-14.
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: Damien Sanlaville; David Genevieve; Céline Bernardin; Jeanne Amiel; Clarisse Baumann; Marie-Christine De Blois; Valérie Cormier-Daire; Bénédicte Gerard; Marion Gerard; Martine Le Merrer; Philippe Parent; Fabienne Prieur; Marguerite Prieur; Odile Raoul; Annick Toutain; Alain Verloes; Géraldine Viot; Serge Romana; Arnold Munnich; Stanislas LYONNET; Michel Vekemans; Catherine Turleau
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
European journal of human genetics : EJHG 2005;13(5):690-3.
2005: Rabah Ben Yaou; Henri-Marc Bécane; Laurence Demay; Pascal Laforet; D Hannequin; P-A Bohu; Valérie Drouin-Garraud; Xavier Ferrer; Jean-Marie Mussini; Elisabeth Ollagnon; Philippe Petiot; I Penisson-Besnier; Nathalie Streichenberger; Annick Toutain; Pascale Richard; Bruno Eymard; Gisèle Bonne
[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].
Revue neurologique 2005;161(1):42-54.
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: Hélène Blons; Delphine Feldmann; V Duval; O Messaz; Françoise Denoyelle; Natalie Loundon; A Sergout-Allaoui; Muriel Houang; Françoise Duriez; Didier Lacombe; Bruno Delobel; Jacques Leman; Hélène Catros; Hubert Journel; Valérie Drouin-Garraud; Marie-Françoise Obstoy; Annick Toutain; S Oden; JE Toublanc; Rémy Couderc; Christine Petit; Eréa-Noel Garabédian; Sandrine Marlin
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
Clinical genetics 2004;66(4):333-40.
2004: Alain Verloes; Pierre Bitoun; Anne Heuskin; Dina Amrom; Hilde van de Broeck; Sarah M Nikkel; Albert E Chudley; Asuri N Prasad; Cristina Rusu; Mircea Covic; Annick Toutain; Claude Moraine; Melissa A Parisi; Michael Patton; Jean-Jacques Martin; Marie-Noelle Van Thienen
Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.
American journal of medical genetics. Part A 2004;127A(3):277-87.
2003: Marie Gomot; Chantal Gendrot; Alain Verloes; Martine Raynaud; Albert David; Helger G Yntema; Sabine Dessay; Vera Kalscheuer; Suzanna G M Frints; Philippe Couvert; Sylvain Briault; Sophie Blesson; Annick Toutain; Jamel Chelly; Vincent Desportes; Claude Moraine
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.
American journal of medical genetics. Part A 2003;123A(2):129-39.
2002: Annick Toutain; Benoît Dessay; Nathalie Ronce; Maria-Immacolata Ferrante; Julie Tranchemontagne; Ruth Newbury-Ecob; Carina Wallgren-Pettersson; John Burn; Josseline Kaplan; Annick Rossi; Silvia Russo; Ian Walpole; James Hartsfield; Nina Oyen; Andrea Nemeth; Pierre Bitoun; Dorothy Trump; Claude Moraine; Brunella Franco
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
European journal of human genetics : EJHG 2002;10(9):516-20.
2002: Sylvain Cantagrel; Laure Maury; Anne-Marie Yamamoto; Josette Maheut; Annick Toutain; Pierre Castelnau
Akinesia, arthrogryposis, craniosynostosis: a presentation of neonatal myasthenia with fetal onset.
American journal of perinatology 2002;19(6):297-301.
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: Jeanne Amiel; Yolanda Espinosa-Parrilla; Julie Steffann; P Gosset; Anna Pelet; Marguerite Prieur; Odile Boute; A Choiset; Didier Lacombe; N Philip; Martine Le Merrer; H Tanaka; M Till; Renaud Touraine; Annick Toutain; Michel Vekemans; Arnold Munnich; Stanislas LYONNET
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.
American journal of human genetics 2001;69(6):1370-7.
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: 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.
2000: Ana Ferreiro; Brigitte Estournet; Danielle Chateau; Norma B Romero; C Laroche; S Odent; Annick Toutain; A Cabello; D Fontan; H G dos Santos; Christine Haenggeli; Enrico Bertini; J Andoni Urtizberea; Pascale Guicheney; Michel Fardeau
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases.
Annals of neurology 2000;48(5):745-57.
2000: Marie-Pierre Moizard; Annick Toutain; D Fournier; F Berret; Martine Raynaud; C Billard; Christian Andres; Claude Moraine
Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.
European journal of human genetics : EJHG 2000;8(7):552-6.
2000: Martine Raynaud; Marie-Pierre Moizard; Benoît Dessay; Sylvain Briault; Annick Toutain; Chantal Gendrot; Nathalie Ronce; Claude Moraine
Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families.
European journal of human genetics : EJHG 2000;8(4):253-8.
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.
1999: Valérie Cormier-Daire; V Belin; Véronica Cusin; Géraldine Viot; D Girlich; Annick Toutain; Anne Moncla; Michel Vekemans; Martine Le Merrer; Arnold Munnich
SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.
Acta paediatrica (Oslo, Norway : 1992). Supplement 1999;88(433):55-9.
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: Vincent des Portes; Cherif Beldjord; Jamel Chelly; Ben Hamel; H Kremer; A Smits; Hans van Bokhoven; Hans-Hilger Ropers; S Claes; J P Fryns; Nathalie Ronce; Chantal Gendrot; Annick Toutain; Martine Raynaud; Claude Moraine
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.
American journal of medical genetics 1999;85(3):263-5.
1999: SM Walpole; Nathalie Ronce; C Grayson; Benoît Dessay; J R W Yates; Dorothy Trump; Annick Toutain
Exclusion of RAI2 as the causative gene for Nance-Horan syndrome.
Human genetics 1999;104(5):410-1.
1999: Nathalie Ronce; Martine Raynaud; Annick Toutain; Marie-Pierre Moizard; Laurence Colleaux; Chantal Gendrot; Sylvain Briault; Claude Moraine
Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family.
American journal of medical genetics 1999;83(2):132-7.
1999: Sylvain Cantagrel; C Chamboux; Annick Toutain; Jean Laugier
Congenital neonatal myotonic dystrophy with persistent pulmonary hypertension and coma: a difficult diagnosis.
Journal of perinatal medicine 1999;27(2):136-7.
1998: Marie-Pierre Moizard; C Billard; Annick Toutain; F Berret; N Marmin; Claude Moraine
Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?
American journal of medical genetics 1998;80(1):32-41.
1998: Sabine Sigaudy; Annick Toutain; Anne Moncla; Catherine Fredouille; B Bourlière; S Ayme; Nicole Philip
Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.
American journal of medical genetics 1998;80(1):16-24.
1998: V Belin; Véronica Cusin; Géraldine Viot; D Girlich; Annick Toutain; Anne Moncla; Michel Vekemans; Martine Le Merrer; Arnold Munnich; Valérie Cormier-Daire
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
Nature genetics 1998;19(1):67-9.
1997: Annick Toutain; Anne-Dominique Ayrault; Claude Moraine
Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families.
American journal of medical genetics 1997;71(3):305-14.
1997: Nathalie Ronce; Marie-Pierre Moizard; L Robb; Annick Toutain; L Villard; Claude Moraine
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.
American journal of human genetics 1997;61(1):233-8.
1997: Annick Toutain; Nathalie Ronce; Benoît Dessay; L Robb; C Francannet; M Le Merrer; M L Briard; Josseline Kaplan; Claude Moraine
Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region.
Human genetics 1997;99(2):256-61.
1997: Annick Toutain; Y Plée; M J Ployet; S Benoit; A Perrot; Catherine Sembely; Marie-Anne Barthez; C Moraine
Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature.
Genetic counseling (Geneva, Switzerland) 1997;8(2):99-105.
1996: Martine Raynaud; Chantal Gendrot; Benoît Dessay; Anne Moncla; Anne-Dominique Ayrault; Marie-Pierre Moizard; Annick Toutain; Sylvain Briault; Laurent Villard; Nathalie Ronce; Claude Moraine
X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.
American journal of medical genetics 1996;64(1):97-106.
1996: Laurent Villard; Annick Toutain; Anne-Marie Lossi; Jozef Gecz; C Houdayer; Claude Moraine; M Fontès
Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.
American journal of human genetics 1996;58(3):499-505.
1995: Agnès Guichet; Sylvain Briault; Annick Toutain; C Paillet; Philippe Descamps; F Pierre; Gilles Body; Claude Moraine
Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks.
Prenatal diagnosis 1995;15(8):769-72.
1995: P Saugier-Veber; Arnold Munnich; Stanislas LYONNET; Annick Toutain; Claude Moraine; C Piussan; M Mathieu; R J Gibbons
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?
American journal of medical genetics 1995;55(3):300-1.
1995: Francis Gold; Philippe Descamps; Annick Toutain; F Pierre; Gilles Body; G Haddad; C Paillet; D Pourcelot; A Lacombe; J J Santini
[Ethical problems raised by the current French practice of therapeutic abortions. Part I: prospective study for 24 months at the University Hospital of Tours (76 cases)].
Journal de gynécologie, obstétrique et biologie de la reproduction 1995;24(6):586-94.
1994: Chantal Gendrot; Nathalie Ronce; Annick Toutain; Marie-Pierre Moizard; Jean-Pierre Müh; Martine Raynaud; J Dourlens; Sylvain Briault; Claude Moraine
X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region.
Clinical genetics 1994;45(3):145-53.
1994: Catherine Billard; Annick Toutain; M L Loisel; P Gillet; Marie-Anne Barthez; J Maheut
Genetic basis of developmental dysphasia. Report of eleven familial cases in six families.
Genetic counseling (Geneva, Switzerland) 1994;5(1):23-33.
1994: Gilles Body; Philippe Descamps; Agnès Guichet; Annick Toutain; C Paillet; D Pourcelot
[The obstetrician's responsibility as a member of a multidisciplinary prenatal diagnosis team].
Journal de gynécologie, obstétrique et biologie de la reproduction 1994;23(5):539-45.
1993: C Bonnard; B de Courtivron; J M Bricout; Annick Toutain; B Glorion
[Palliative treatment of myopathies. Contribution of surgical treatments].
Annales de pédiatrie 1993;40(4):242-52.
1993: G Lefort; J Taib; Annick Toutain; C Houdayer; Claude Moraine; Claude Humeau; P Sarda
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family.
Annales de génétique 1993;36(4):200-5.
1993: C I Houdayer; Annick Toutain; Nathalie Ronce; G Lefort; P Sarda; J Taib; Sylvain Briault; J C Lambert; Claude Moraine
X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq.
Annales de génétique 1993;36(4):194-9.
1992: Gérard Lorette; Annick Toutain; M Barthes; E Saliba; G Georgesco; Claude Moraine
[Menkes syndrome. An unusual pigmentation anomaly in a mother and three sisters].
Annales de pédiatrie 1992;39(7):453-6.
1992: Francis Gold; E Saliba; MC Grangeponte; C Paillet; D Pourcelot; Annick Toutain; F Pierre; A Fignon; Gilles Body; Jean Laugier
[Cerebral lesions observed in a twin after the in utero death of the other twin. Fetal anoxia-ischemia can be the possible mechanism (3 cases)].
Archives françaises de pédiatrie 1992;49(6):529-33.
1992: C Valtat; D Galliano; R Mettey; Annick Toutain; Claude Moraine
Monosomy 6q: report on four new cases.
Clinical genetics 1992;41(3):159-66.
1991: Annick Toutain; D Sirinelli; C Paillet; C Bonnard; Gilles Body; P Maroteaux; Claude Moraine
[Reinhardt-Pfeiffer mesomelic dysplasia or dyschondrosteosis? Is the distinction well-founded? Apropos of a familial case with variable expression].
Annales de pédiatrie 1991;38(1):37-45.