Isabelle Missotte

Affiliations

Service de Pédiatrie, Centre Hospitalier Territorial, Nouvelle Calédonie, France.

Publications (3)

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.

American journal of human genetics

Avec: Ria Schönauer , Wenjun Jin , Christin Findeisen , Irene Valenzuela , Laura Alice Devlin , Jill Murrell , Emma C Bedoukian , Linda Pöschla , Elena Hantmann , Korbinian M Riedhammer , Julia Hoefele , Konrad Platzer , Ronald Biemann , Philipp M Campeau , Johannes Münch , Henrike Heyne , Anne Hoffmann , Adhideb Ghosh , Wenfei Sun , Hua Dong , Falko Noé , Christian Wolfrum , Emily Woods , Michael J Parker , Ruxandra Neatu , Gwenael Le Guyader , Ange-Line Bruel , Laurence Perrin , Helena Spiewak , Auteur inconnu , Melanie Fourgeaud , Vincent Michaud , Didier Lacombe , Sarah A Paolucci , Jillian G Buchan , Margaret Glissmeyer , Bernt Popp , Matthias Blüher , John A Sayer , Jan Halbritter

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Journal of medical genetics

Avec: Martin Chevarin , Yannis Duffourd , Rebecca A Barnard , Sébastien Moutton , François Lecoquierre , Fatma Daoud , Paul Kuentz , Caroline Cabret , Julien Thevenon , Elodie Gautier , Patrick Callier , Judith St-Onge , Thibaud Jouan , Didier Lacombe , Marie Ange Delrue , Cyril Goizet , Fanny Morice-Picard , Julien Van-Gils , Arnold Munnich , Stanislas Lyonnet , Valérie Cormier-Daire , Geneviève Baujat , Muriel Holder , Florence Petit , Bruno Leheup , Sylvie Odent , Pierre-Simon Jouk , Gipsy Lopez , David Geneviève , Patrick Collignon , Dominique Martin-Coignard , Aurélia Jacquette , Laurence Perrin , Audrey Putoux , Elisabeth Sarrazin , Khadija Amarof , Christine Coubes , Sujatha Jagadeesh , Elisabetta Lapi , Florence Demurger , Alice Goldenberg , Martine Doco-Fenzy , Cyril Mignot , Delphine Héron , Nolwenn Jean-Marçais , Alice Masurel , Salima El Chehadeh , Nathalie Marle , Frédéric Huet , Christine Binquet , Gwenaëlle Collod-Beroud , Pauline Arnaud , Nadine Hanna , Catherine Boileau , Guillaume Jondeau , Robert Olaso , Doris Lechner , Charlotte Poe , Mirna Assoum , Virginie Carmignac , Laurence Duplomb , Frédéric Tran Mau-Them , Christophe Philippe , Antonio Vitobello , Ange-Line Bruel , Anne Boland , Jean-François Deleuze , Christel Thauvin-Robinet , Jean-Baptiste Rivière , Brian J O'Roak , Laurence Faivre

Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.

European journal of endocrinology

Avec: Camille Gosseaume , Thierry Fournier , Isabelle Jéru , Marie-Léone Vignaud , Françoise Archambeaud , Xavier Debussche , Céline Droumaguet , Bruno Fève , Sophie Grillot , Bruno Guerci , Sylvie Hieronimus , Yves Horsmans , Estelle Nobécourt , Catherine Pienkowski , Christine Poitou , Jean-Paul Thissen , Olivier Lascols , Séverine Degrelle , Vassilis Tsatsaris , Corinne Vigouroux , Camille Vatier

Réseau de co-auteurs

Ange-Line Bruel 2 collaborations

Laurence Perrin 2 collaborations

Didier Lacombe 2 collaborations

Ria Schönauer 1 collaboration

Wenjun Jin 1 collaboration

Christin Findeisen 1 collaboration

Irene Valenzuela 1 collaboration

Laura Alice Devlin 1 collaboration

Jill Murrell 1 collaboration

Emma C Bedoukian 1 collaboration

Linda Pöschla 1 collaboration

Elena Hantmann 1 collaboration

Korbinian M Riedhammer 1 collaboration

Julia Hoefele 1 collaboration

Konrad Platzer 1 collaboration

Ronald Biemann 1 collaboration

Philipp M Campeau 1 collaboration

Johannes Münch 1 collaboration

Henrike Heyne 1 collaboration

Anne Hoffmann 1 collaboration

Adhideb Ghosh 1 collaboration

Wenfei Sun 1 collaboration

Hua Dong 1 collaboration

Falko Noé 1 collaboration

Christian Wolfrum 1 collaboration

Emily Woods 1 collaboration

Michael J Parker 1 collaboration

Ruxandra Neatu 1 collaboration

Gwenael Le Guyader 1 collaboration

Helena Spiewak 1 collaboration

None None 1 collaboration

Melanie Fourgeaud 1 collaboration

Vincent Michaud 1 collaboration

Sarah A Paolucci 1 collaboration

Jillian G Buchan 1 collaboration

Margaret Glissmeyer 1 collaboration

Bernt Popp 1 collaboration

Matthias Blüher 1 collaboration

John A Sayer 1 collaboration

Jan Halbritter 1 collaboration

Martin Chevarin 1 collaboration

Yannis Duffourd 1 collaboration

Rebecca A Barnard 1 collaboration

Sébastien Moutton 1 collaboration

François Lecoquierre 1 collaboration

Fatma Daoud 1 collaboration

Paul Kuentz 1 collaboration

Caroline Cabret 1 collaboration

Julien Thevenon 1 collaboration

Elodie Gautier 1 collaboration

Patrick Callier 1 collaboration

Judith St-Onge 1 collaboration

Thibaud Jouan 1 collaboration

Marie Ange Delrue 1 collaboration

Cyril Goizet 1 collaboration

Fanny Morice-Picard 1 collaboration

Julien Van-Gils 1 collaboration

Arnold Munnich 1 collaboration

Stanislas Lyonnet 1 collaboration

Valérie Cormier-Daire 1 collaboration

Geneviève Baujat 1 collaboration

Muriel Holder 1 collaboration

Florence Petit 1 collaboration

Bruno Leheup 1 collaboration

Sylvie Odent 1 collaboration

Pierre-Simon Jouk 1 collaboration

Gipsy Lopez 1 collaboration

David Geneviève 1 collaboration

Patrick Collignon 1 collaboration

Dominique Martin-Coignard 1 collaboration

Aurélia Jacquette 1 collaboration

Audrey Putoux 1 collaboration

Elisabeth Sarrazin 1 collaboration

Khadija Amarof 1 collaboration

Christine Coubes 1 collaboration

Sujatha Jagadeesh 1 collaboration

Elisabetta Lapi 1 collaboration

Florence Demurger 1 collaboration

Alice Goldenberg 1 collaboration

Martine Doco-Fenzy 1 collaboration

Cyril Mignot 1 collaboration

Delphine Héron 1 collaboration

Nolwenn Jean-Marçais 1 collaboration

Alice Masurel 1 collaboration

Salima El Chehadeh 1 collaboration

Nathalie Marle 1 collaboration

Frédéric Huet 1 collaboration

Christine Binquet 1 collaboration

Gwenaëlle Collod-Beroud 1 collaboration

Pauline Arnaud 1 collaboration

Nadine Hanna 1 collaboration

Catherine Boileau 1 collaboration

Guillaume Jondeau 1 collaboration

Robert Olaso 1 collaboration

Doris Lechner 1 collaboration

Charlotte Poe 1 collaboration

Mirna Assoum 1 collaboration

Virginie Carmignac 1 collaboration

Laurence Duplomb 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Christophe Philippe 1 collaboration

Antonio Vitobello 1 collaboration

Anne Boland 1 collaboration

Jean-François Deleuze 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Jean-Baptiste Rivière 1 collaboration

Brian J O'Roak 1 collaboration

Laurence Faivre 1 collaboration

Camille Gosseaume 1 collaboration

Thierry Fournier 1 collaboration

Isabelle Jéru 1 collaboration

Marie-Léone Vignaud 1 collaboration

Françoise Archambeaud 1 collaboration

Xavier Debussche 1 collaboration

Céline Droumaguet 1 collaboration

Bruno Fève 1 collaboration

Sophie Grillot 1 collaboration

Bruno Guerci 1 collaboration

Sylvie Hieronimus 1 collaboration

Yves Horsmans 1 collaboration

Estelle Nobécourt 1 collaboration

Catherine Pienkowski 1 collaboration

Christine Poitou 1 collaboration

Jean-Paul Thissen 1 collaboration

Olivier Lascols 1 collaboration

Séverine Degrelle 1 collaboration

Vassilis Tsatsaris 1 collaboration

Corinne Vigouroux 1 collaboration

Camille Vatier 1 collaboration