Papers authored by Valérie Cormier-Daire
Refreshing results…
2015
Sandra Mercier,
Sébastien Küry 
,
Flora Bréh,
Armelle Magot,
Uchenna Agbim,
Thomas Besnard ,
Florence Caillon,
Emmanuelle Salort-Campana,
Nathalie Bodak,
Brigitte Chabrol,
Valérie Cormier-Daire ,
Albert David,
Chantal Bou-Hanna,
Laurence Faivre,
Flora Bréhéret
and 42 other authors
Download from dx.doi.org
,
Flora Bréh,
Armelle Magot,
Uchenna Agbim,
Thomas Besnard ,
Florence Caillon,
Emmanuelle Salort-Campana,
Nathalie Bodak,
Brigitte Chabrol,
Valérie Cormier-Daire ,
Albert David,
Chantal Bou-Hanna,
Laurence Faivre,
Flora Bréhéret
and 42 other authors
Download from dx.doi.org
Jennifer J. Johnston,
Monica Y. Sanchez-Contreras,
Kim M. Keppler-Noreuil,
Julie Sapp,
Molly Crenshaw,
NiCole A. Finch,
Valerie Cormier-Daire ,
Rosa Rademakers,
Virginia P. Sybert,
Leslie G. Biesecker
,
Rosa Rademakers,
Virginia P. Sybert,
Leslie G. Biesecker
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome
Download from www.ncbi.nlm.nih.gov
Kreins Ay,
Kong Xf,
Alexandra Y. Kreins,
Michael J. Ciancanelli,
Satoshi Okada,
Xiao-Fei Kong,
Ciancanelli Mj,
Noé Ramírez-Alejo,
Sara Sebnem Kilic,
Jamila El Baghdadi,
Shigeaki Nonoyama,
Seyed Alireza Mahdaviani ,
Kilic Ss,
Fatima Ailal,
Aziz Bousfiha
and 51 other authors
,
Kilic Ss,
Fatima Ailal,
Aziz Bousfiha
and 51 other authors
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
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Isabelle Perrault,
Jan Halbritter,
Jonathan D. Porath,
Xavier Gérard,
Daniela A. Braun,
Yung Heon,
Heon Yung Gee,
Hanan M. Fathy,
Sophie Saunier,
Valérie Cormier-Daire ,
Sophie Thomas,
Tania Attié-Bitach,
Nathalie Boddaert,
Michael Taschner,
Markus Schueler
and 10 other authors
,
Sophie Thomas,
Tania Attié-Bitach,
Nathalie Boddaert,
Michael Taschner,
Markus Schueler
and 10 other authors
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
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László Sztriha,
Melinda Zombor,
Hajnalka Szabó,
Michel Vekemans,
Sophie Saunier,
Caroline Alby,
Sophie Thomas,
Kevin Piquand,
Céline Huber,
André Megarbané,
Amale Ichkou,
Salima El Chehadeh-Djebbar,
Nicole Laurent,
Marine Legendre,
Laurence Faivre
and 15 other authors
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Lam Son Nguyen,
Taiane Schneider,
Marlène Rio,
Sébastien Moutton,
Karine Siquier-Pernet,
Florine Verny,
Nathalie Boddaert,
Isabelle Desguerre,
Arnold Munich,
José Luis Rosa,
Valérie Cormier-Daire ,
Laurence Colleaux
Download from www.nature.com
,
Laurence Colleaux
Download from www.nature.com
Sylvia E. C. van Beersum,
Jeroen van Reeuwijk ,
Yap Zm,
Margriet van Kogelenberg,
Uk10k,
Claudio R. Cortés,
Dorus A. Mans ,
Miriam Schmidts ,
Jean-Marc Plaza,
S. Paige Taylor,
Zhi Min Yap,
Sp Paige Taylor,
Stef J. F. Letteboer,
Yuqing Hou,
Warren Herridge
and 191 other authors
Download from www.nature.com
,
Yap Zm,
Margriet van Kogelenberg,
Uk10k,
Claudio R. Cortés,
Dorus A. Mans ,
Miriam Schmidts ,
Jean-Marc Plaza,
S. Paige Taylor,
Zhi Min Yap,
Sp Paige Taylor,
Stef J. F. Letteboer,
Yuqing Hou,
Warren Herridge
and 191 other authors
Download from www.nature.com
Mathilde Lefebvre,
Fabienne Dufernez,
Ange-Line Bruel,
Marie Gonzales,
Bernard Aral,
Judith Saint-Onge,
Nadège Gigot,
Julie Desir,
Caroline Daelemans,
Frédérique Jossic,
Sébastien Schmitt,
Raphaele Mangione,
Fanny Pelluard,
Catherine Vincent-Delorme,
Jean-Marc Labaune
and 20 other authors
Severe X-linked chondrodysplasia punctata in nine new female fetuses: Severe CDPX2 in female fetuses
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Carine Le Goff,
Valerie Cormier-Daire
Chondrodysplasias and TGFβ signaling
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C. Leroy,
M.-L. Jacquemont,
B. Doray,
D. Lamblin,
V. Cormier-Daire ,
A. Philippe,
S. Nusbaum,
C. Patrat,
J. Steffann,
L. Colleaux ,
M. Vekemans,
S. Romana,
C. Turleau,
V. Malan
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,
A. Philippe,
S. Nusbaum,
C. Patrat,
J. Steffann,
L. Colleaux ,
M. Vekemans,
S. Romana,
C. Turleau,
V. Malan
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Clémence Vanlerberghe,
Florence Petit,
Valérie Malan,
Catherine Vincent-Delorme,
Sonia Bouquillon,
Odile Boute,
Muriel Holder-Espinasse,
Bruno Delobel,
Bénédicte Duban,
Louis Vallee,
Jean-Marie Cuisset,
Marie-Pierre Lemaitre,
Marie-Christine Vantyghem,
Marie Pigeyre ,
Sandrine Lanco-Dosen
and 21 other authors
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,
Sandrine Lanco-Dosen
and 21 other authors
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Jennie E. Murray,
Mirjam van der Burg,
Hanna IJspeert,
Paula Carroll,
Qian Wu,
Takashi Ochi,
Andrea Leitch,
Edward S. Miller,
Boris Kysela,
Alireza Jawad,
Armand Bottani,
Francesco Brancati,
Marco Cappa,
Valerie Cormier-Daire ,
Charu Deshpande
and 7 other authors
,
Charu Deshpande
and 7 other authors
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
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I. Perrault,
J. Halbritter,
J. Porath,
X. Gerard,
D. Braun,
H. Gee,
H. Fathy,
S. Saunier,
V. Cormier-Daire ,
S. Thomas,
T. Attié-Bitach,
N. Boddaert,
M. Taschner,
M. Schueler,
E. Lorentzen
and 6 other authors
,
S. Thomas,
T. Attié-Bitach,
N. Boddaert,
M. Taschner,
M. Schueler,
E. Lorentzen
and 6 other authors
Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy
Download from dx.doi.org
Mouna Barat-Houari,
Bruno Dumont,
Aurélie Fabre,
Frédéric Tm Them,
Eric Bieth,
Yves Alembik,
Marie Brechard,
Tiffany Busa,
Jean-Luc Alessandri,
Patrick Calvas,
Yline Capri,
Jeanne Amiel ,
Francois Cartault,
Nicolas Chassaing,
Vidrica Ciorca
and 40 other authors
,
Francois Cartault,
Nicolas Chassaing,
Vidrica Ciorca
and 40 other authors
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
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Agnès Taillandier,
Christelle Domingues,
Clémence De Cazanove,
Valérie Porquet-Bordes,
Sophie Monnot,
Tina Kiffer-Moreira,
Agnès Rothenbuhler,
Pascal Guggenbuhl,
Catherine Cormier,
Geneviève Baujat,
Françoise Debiais,
Yline Capri,
Martine Cohen-Solal ,
Philippe Parent,
Jean Chiesa
and 11 other authors
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,
Philippe Parent,
Jean Chiesa
and 11 other authors
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Sandrine Floriot,
Christine Vesque,
Sabrina Rodriguez,
Florence Bourgain-Guglielmetti,
Anthi Karaiskou,
Mathieu Gautier,
Amandine Duchesne ,
Sarah Barbey,
Sebastien Fritz,
Alexandre Vasilescu,
Maud Bertaud,
Mohammed Moudjou,
Sophie Halliez,
Valérie Cormier-Daire ,
Joyce E. L. Hokayem
and 11 other authors
,
Sarah Barbey,
Sebastien Fritz,
Alexandre Vasilescu,
Maud Bertaud,
Mohammed Moudjou,
Sophie Halliez,
Valérie Cormier-Daire ,
Joyce E. L. Hokayem
and 11 other authors
C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle
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2014
Séverine Bacrot,
Mathilde Doyard,
Céline Huber,
Olivier Alibeu ,
Niklas Feldhahn,
Daphné Lehalle,
Didier Lacombe ,
Sandrine Marlin,
Patrick Nitschke,
Florence Petit,
Marie-Paule Vazquez,
Arnold Munnich,
Valérie Cormier-Daire
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,
Niklas Feldhahn,
Daphné Lehalle,
Didier Lacombe ,
Sandrine Marlin,
Patrick Nitschke,
Florence Petit,
Marie-Paule Vazquez,
Arnold Munnich,
Valérie Cormier-Daire
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Nadja Ehmke,
Almuth Caliebe,
Rainer Koenig,
Sarina G. Kant,
Zornitza Stark,
Valérie Cormier-Daire ,
Dagmar Wieczorek,
Gabriele Gillessen-Kaesbach,
Kirstin Hoff,
Amit Kawalia,
Holger Thiele,
Janine Altmüller ,
Bj Fischer-Zirnsak,
Alexej Knaus,
Na Zhu
and 12 other authors
,
Dagmar Wieczorek,
Gabriele Gillessen-Kaesbach,
Kirstin Hoff,
Amit Kawalia,
Holger Thiele,
Janine Altmüller ,
Bj Fischer-Zirnsak,
Alexej Knaus,
Na Zhu
and 12 other authors
Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome
Download from www.ncbi.nlm.nih.gov
Marie-Lorraine Monin,
Cyril Mignot,
Pascale De Lonlay,
Bénédicte Héron,
Alice Masurel,
Michèle Mathieu-Dramard,
Catherine Lenaerts,
Christel Thauvin,
Marion Gérard,
Emmanuel Roze,
Aurélia Jacquette,
Claire de Baracé,
Perrine Charles,
Philippe Khau Van Kien,
Valérie Drouin-Garraud
and 7 other authors
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