Papers authored by Audrey Putoux
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2016
A. Putoux 
,
A. Alqahtani,
L. Pinson,
A. D. C. Paulussen,
J. Michel,
A. Besson,
S. Mazoyer,
I. Borg,
S. Nampoothiri,
A. Vasiljevic,
A. Uwineza,
D. Boggio,
F. Champion,
C. E. de Die‐Smulders,
T. Gardeitchik
and 12 other authors
,
A. Alqahtani,
L. Pinson,
A. D. C. Paulussen,
J. Michel,
A. Besson,
S. Mazoyer,
I. Borg,
S. Nampoothiri,
A. Vasiljevic,
A. Uwineza,
D. Boggio,
F. Champion,
C. E. de Die‐Smulders,
T. Gardeitchik
and 12 other authors
Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome
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S. Odent,
L. Pasquier,
G. Plessis,
F. Prieur,
A. Putoux ,
M. Rio,
Mathilde Nizon,
H. Testard,
Marcia Henry,
Caroline Michot,
Clarisse Baumann,
Anne Bazin,
A.‐L Delezoïde,
Bettina Bessieres,
A. Dieux‐Coeslier
and 13 other authors
,
M. Rio,
Mathilde Nizon,
H. Testard,
Marcia Henry,
Caroline Michot,
Clarisse Baumann,
Anne Bazin,
A.‐L Delezoïde,
Bettina Bessieres,
A. Dieux‐Coeslier
and 13 other authors
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome
Download from hal-univ-rennes1.archives-ouvertes.fr
2015
Sarra Dimassi,
Thomas Simonet,
Audrey Labalme,
Nadia Boutry-Kryza,
Amandine Campan-Fournier,
Raphaelle Lamy,
Claire Bardel,
Mad-Hélénie Elsensohn,
Florence Roucher-Boulez,
Nicolas Chatron,
Audrey Putoux ,
Julitta de Bellescize,
Dorothée Ville,
Laurent Schaeffer,
Pascal Roy
and 5 other authors
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,
Julitta de Bellescize,
Dorothée Ville,
Laurent Schaeffer,
Pascal Roy
and 5 other authors
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2014
K. Nguyen,
A. Putoux ,
T. Busa,
M. P. Cordier,
S. Sigaudy,
M. Till,
B. Chabrol,
L. Michel-Calemard,
R. Bernard,
S. Julia,
P. Malzac,
A. Labalme,
C. Missirian,
P. Edery,
C. Popovici
and 2 other authors
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,
T. Busa,
M. P. Cordier,
S. Sigaudy,
M. Till,
B. Chabrol,
L. Michel-Calemard,
R. Bernard,
S. Julia,
P. Malzac,
A. Labalme,
C. Missirian,
P. Edery,
C. Popovici
and 2 other authors
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2012
Audrey Putoux ,
Sheela Nampoothiri,
Nicole Laurent,
Valérie Cormier-Daire ,
Philip L. Beales,
Albert Schinzel,
Deborah Bartholdi,
Caroline Alby,
Sophie Thomas,
Nadia Elkhartoufi,
Amale Ichkou,
Julie Litzler,
Arnold Munnich,
Férechté Encha-Razavi,
Rajesh Kannan
and 5 other authors
,
Sheela Nampoothiri,
Nicole Laurent,
Valérie Cormier-Daire ,
Philip L. Beales,
Albert Schinzel,
Deborah Bartholdi,
Caroline Alby,
Sophie Thomas,
Nadia Elkhartoufi,
Amale Ichkou,
Julie Litzler,
Arnold Munnich,
Férechté Encha-Razavi,
Rajesh Kannan
and 5 other authors
NovelKIF7mutations extend the phenotypic spectrum of acrocallosal syndrome
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2011
Sandra Whalen,
Delphine Héron,
Thierry Gaillon,
Oana Moldovan,
Massimiliano Rossi,
Françoise Devillard,
Fabienne Giuliano,
Gabriela Soares,
Michelle Mathieu-Dramard,
Alexandra Afenjar,
Perrine Charles,
Cyril Mignot,
Lydie Burglen,
Lionel Van Maldergem,
Juliette Piard
and 23 other authors
Download from www.researchgate.net
and 23 other authors
Download from www.researchgate.net
Audrey Putoux ,
Sophie Thomas,
Karlien L. M. Coene,
Erica E. Davis,
Yasemin Alanay,
Coene Kl,
Gönül Oğur,
Davis Ee,
Elif Uz,
Daniela Buzas,
Céline Gomes,
Sophie Patrier,
Christopher L. Bennett,
Nadia Elkhartoufi,
Marie-Hélène Saint Frison
and 28 other authors
,
Sophie Thomas,
Karlien L. M. Coene,
Erica E. Davis,
Yasemin Alanay,
Coene Kl,
Gönül Oğur,
Davis Ee,
Elif Uz,
Daniela Buzas,
Céline Gomes,
Sophie Patrier,
Christopher L. Bennett,
Nadia Elkhartoufi,
Marie-Hélène Saint Frison
and 28 other authors
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Download from www.ncbi.nlm.nih.gov
2010
A. Putoux ,
S. Mougou-Zerelli,
S. Thomas,
N. Elkhartoufi,
S. Audollent,
M. Le Merrer,
A. Lachmeijer,
S. Sigaudy,
A. Buenerd,
C. Fernandez,
A.-L. Delezoide,
M.-C. Gubler,
R. Salomon,
A. Saad,
M.-P. Cordier
and 3 other authors
,
S. Mougou-Zerelli,
S. Thomas,
N. Elkhartoufi,
S. Audollent,
M. Le Merrer,
A. Lachmeijer,
S. Sigaudy,
A. Buenerd,
C. Fernandez,
A.-L. Delezoide,
M.-C. Gubler,
R. Salomon,
A. Saad,
M.-P. Cordier
and 3 other authors
BBS10 mutations are common in 'Meckel'-type cystic kidneys
Download from hal.archives-ouvertes.fr
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