Papers authored by Jeanne Amiel
Refreshing results…
2010
Loïc Pontual,
Eileen Sproat Emison,
Merce Garcia-Barcelo,
Elizabeth A. Grice 
,
Francesca Lantieri,
Jeanne Amiel ,
Grzegorz Burzynski,
Raquel M. Fernández,
Li Hao,
Carl Kashuk,
Kristen West,
Xiaoping Miao,
Paul K. H. Tam,
Paola Griseri,
Isabella Ceccherini
and 11 other authors
Download from www.ncbi.nlm.nih.gov
,
Francesca Lantieri,
Jeanne Amiel ,
Grzegorz Burzynski,
Raquel M. Fernández,
Li Hao,
Carl Kashuk,
Kristen West,
Xiaoping Miao,
Paul K. H. Tam,
Paola Griseri,
Isabella Ceccherini
and 11 other authors
Download from www.ncbi.nlm.nih.gov
Martijn Kranendijk,
Emile Van Schaftingen ,
Eduard A. Struys,
K. Michael Gibson,
Warsha A. Kanhai,
Marjo S. van der Knaap,
E. van Schaftingen,
Jeanne Amiel ,
Neil R. Buist,
Anibh M. Das,
Johannis B. de Klerk,
M. S. van der Knaap,
Annette S. Feigenbaum,
J. B. De Klerk,
Dorothy K. Grange
and 11 other authors
,
Eduard A. Struys,
K. Michael Gibson,
Warsha A. Kanhai,
Marjo S. van der Knaap,
E. van Schaftingen,
Jeanne Amiel ,
Neil R. Buist,
Anibh M. Das,
Johannis B. de Klerk,
M. S. van der Knaap,
Annette S. Feigenbaum,
J. B. De Klerk,
Dorothy K. Grange
and 11 other authors
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria
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2009
Franck Bourdeaut,
Isabelle Janoueix-Lerosey,
Carlo Lucchesi ,
R��gine Paris,
Agn��s Ribeiro,
Lo��c de Pontual,
Jeanne Amiel ,
Stanislas Lyonnet,
Ga��lle Pierron,
Jean Michon,
Michel Peuchmaur,
Olivier Delattre
,
R��gine Paris,
Agn��s Ribeiro,
Lo��c de Pontual,
Jeanne Amiel ,
Stanislas Lyonnet,
Ga��lle Pierron,
Jean Michon,
Michel Peuchmaur,
Olivier Delattre
Cholinergic switch associated with morphological differentiation in neuroblastoma
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Loïc de Pontual,
Norann A. Zaghloul,
Sophie Thomas,
Erica Ee Davis,
David M. Mcgaughey ,
Hélène Dollfus,
Clarisse Baumann,
Seneca L. Bessling,
Candice Babarit,
Anna Pelet,
Cecilia Gascue,
Philip Beales,
Arnold Munnich,
Stanislas Lyonnet,
Heather Etchevers
and 6 other authors
Download from doi.org
,
Hélène Dollfus,
Clarisse Baumann,
Seneca L. Bessling,
Candice Babarit,
Anna Pelet,
Cecilia Gascue,
Philip Beales,
Arnold Munnich,
Stanislas Lyonnet,
Heather Etchevers
and 6 other authors
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Lo��c de Pontual,
Yves Mathieu,
Christelle Golzio,
Marl��ne Rio,
Val��rie Malan,
Nathalie Boddaert,
Christine Soufflet,
Capucine Picard ,
Anne Durandy,
Angus Dobbie,
Delphine Heron,
Bertrand Isidor,
Jacques Motte,
Ruth Newburry-Ecob,
Laurent Pasquier
and 9 other authors
,
Anne Durandy,
Angus Dobbie,
Delphine Heron,
Bertrand Isidor,
Jacques Motte,
Ruth Newburry-Ecob,
Laurent Pasquier
and 9 other authors
Mutational, functional, and expression studies of theTCF4gene in Pitt-Hopkins syndrome
Download from www.researchgate.net
Stacey Arnold,
Anna Pelet,
Jeanne Amiel ,
Salud Borrego,
Robert Hofstra,
Paul Tam,
Isabella Ceccherini,
Stanislas Lyonnet,
Stephanie Sherman,
Aravinda Chakravarti
Download from www.ncbi.nlm.nih.gov
,
Salud Borrego,
Robert Hofstra,
Paul Tam,
Isabella Ceccherini,
Stanislas Lyonnet,
Stephanie Sherman,
Aravinda Chakravarti
Download from www.ncbi.nlm.nih.gov
Sabina Benko,
Judy A. Fantes,
Jeanne Amiel ,
Dirk-Jan Kleinjan,
Sophie Thomas,
Jacqueline Ramsay,
Negar Jamshidi,
Abdelkader Essafi,
Simon Heaney,
Christopher T. Gordon,
David McBride,
Christelle Golzio,
Malcolm Fisher ,
Paul Perry,
Véronique Abadie
and 18 other authors
,
Dirk-Jan Kleinjan,
Sophie Thomas,
Jacqueline Ramsay,
Negar Jamshidi,
Abdelkader Essafi,
Simon Heaney,
Christopher T. Gordon,
David McBride,
Christelle Golzio,
Malcolm Fisher ,
Paul Perry,
Véronique Abadie
and 18 other authors
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
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Delphine Trochet,
Yves Mathieu,
Lo��c de Pontual,
Ravi Savarirayan,
Arnold Munnich,
Jean-Fran��ois Brunet,
Stanislas Lyonnet,
Christo Goridis,
Jeanne Amiel
Download from www.researchgate.net
Download from www.researchgate.net
2008
Loïc de Pontual,
Loic De Pontual,
Delphine Trochet,
Sophie Caillat-Zucman,
Othman A. Abou Shenab,
Othman A. Abou Shenab,
Juliane Léger,
Pierre Bougneres,
Yanick Crow,
Steve Cunningham,
Blandine Esteva,
Lada Cindro Heberle,
Juliane Leger,
Graziella Pinto,
Loic Trochet D. Caillat-Zucman S. Abou Shenab O. Bougneres P. Crow YJ Cunningham S. Esteva B. Heberle L. Leger J. Pinto G. Polak M. Shafik M. Straus C. Trang H. Munnich A. Lyonnet S. Desguerre I. Amiel J. De Pontual
and 8 other authors
Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome
Download from www.nature.com
Jill Walter S. Hobson E. Burkitt-Wright E. Smith R,Toutain A. Amiel J. Lyonnet S. Mansour S. Fitzpatrick D. Ciccone R. Ricca I. Zuffardi O. and Donnai D. Clayton-Smith,
Sarah Walters,
Emma Hobson,
Jill Walters S. Hobson E. Burkitt-Wright E. Smith R. Toutain A. Amiel J. Lyonnet S. Mansour S. Fitzpatrick D. Ciccone R. Ricca I. Zuffardi O. Donnai D. Clayton-Smith,
Emma Burkitt-Wright,
Rupert Smith,
Annick Toutain,
Jeanne Amiel ,
Stanislas Lyonnet,
Sahar Mansour,
David Fitzpatrick,
Roberto Ciccone,
Ivana Ricca,
Orsetta Zuffardi,
Dian Donnai
Download from www.nature.com
,
Stanislas Lyonnet,
Sahar Mansour,
David Fitzpatrick,
Roberto Ciccone,
Ivana Ricca,
Orsetta Zuffardi,
Dian Donnai
Download from www.nature.com
Isabelle Janoueix-Lerosey,
Delphine Lequin,
Laurence Brugières,
Agnes Ribeiro,
Loïc de Pontual,
Valérie Combaret,
Virginie Raynal,
Alain Puisieux ,
Gudrun Schleiermacher,
Gaelle Pierron,
Dominique Valteau-Couanet,
Thierry Frébourg,
Jean Michon,
Stanislas Lyonnet,
Jeanne Amiel
and 1 other authors
,
Gudrun Schleiermacher,
Gaelle Pierron,
Dominique Valteau-Couanet,
Thierry Frébourg,
Jean Michon,
Stanislas Lyonnet,
Jeanne Amiel
and 1 other authors
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma
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C. Crétolle,
A. Pelet,
D. Sanlaville,
M. Zérah,
J. Amiel ,
F. Jaubert,
Y. Révillon,
L. Baala,
A. Munnich,
C. Nihoul-Fékété,
S. Lyonnet
,
F. Jaubert,
Y. Révillon,
L. Baala,
A. Munnich,
C. Nihoul-Fékété,
S. Lyonnet
Spectrum ofHLXB9gene mutations in Currarino syndrome and genotype-phenotype correlation
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N. Bahi-Buisson,
K. Poirier,
N. Boddaert,
Y. Saillour,
L. Castelnau,
N. Philip,
G. Buyse,
L. Villard,
S. Joriot,
S. Marret,
M. Bourgeois,
H. Van Esch ,
L. Lagae,
J. Amiel ,
L. Hertz-Pannier
and 5 other authors
,
L. Lagae,
J. Amiel ,
L. Hertz-Pannier
and 5 other authors
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
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