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Mutations in NALP12 cause hereditary periodic fever syndromes
15 auth.
I. Jéru,
P. Duquesnoy,
T. Fernandes‐Alnemri,
E. Cochet,
Je-Wook Yu,
M. Lackmy-Port-Lis,
Emmanuel Grimprel,
J. Landman-Parker,
V. Hentgen,
Sandrine Marlin,
...
K. McElreavey,
Tamara Sarkisian,
G. Grateau,
E. Alnemri,
Serge Amselem
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8 |
2008 |
8
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CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
44 auth.
A. Merveille,
E. Davis,
A. Becker-Heck,
M. Legendre,
I. Amirav,
G. Bataille,
J. Belmont,
N. Beydon,
F. Billen,
A. Clément,
C. Clercx,
A. Coste,
R. Crosbie,
J. Blic,
Stephane Deleuze,
...
P. Duquesnoy,
D. Escalier,
E. Escudier,
M. Fliegauf,
J. Horváth,
K. Hill,
M. Jorissen,
Jocelyne Just,
A. Kispert,
M. Lathrop,
N. Loges,
J. Marthin,
Y. Momozawa,
G. Montantin,
K. Nielsen,
H. Olbrich,
J. Papon,
I. Rayet,
G. Roger,
M. Schmidts,
Henrique Tenreiro,
J. Towbin,
D. Zélénika,
H. Zentgraf,
M. Georges,
A. Lequarré,
N. Katsanis,
H. Omran,
S. Amselem
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8 |
2011 |
8
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Laron dwarfism and mutations of the growth hormone-receptor gene.
7 auth.
S. Amselem,
P. Duquesnoy,
O. Attrée,
G. Novelli,
S. Bousnina,
M. Postel-Vinay,
...
M. Goossens
|
8 |
1989 |
8
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Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.
11 auth.
Kalotina Machinis,
J. Pantel,
I. Netchine,
J. Léger,
Olivier Camand,
M. Sobrier,
...
F. Moal,
P. Duquesnoy,
M. Abitbol,
P. Czernichow,
S. Amselem
|
8 |
2001 |
8
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Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution
J. Pantel,
Kalotina Machinis,
M. Sobrier,
P. Duquesnoy,
M. Goossens,
S. Amselem
|
7 |
2000 |
7
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|
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A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia
10 auth.
B. Duriez,
P. Duquesnoy,
E. Escudier,
A. Bridoux,
D. Escalier,
I. Rayet,
...
E. Marcos,
Anne-Marie Vojtek,
J. Bercher,
S. Amselem
|
7 |
2007 |
7
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|
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Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.
16 auth.
C. Cazeneuve,
H. Ajrapetyan,
S. Papin,
F. Roudot-thoraval,
D. Geneviève,
Elizaveta Mndjoyan,
M. Papazian,
Ashot Sarkisian,
A. Babloyan,
B. Boissier,
...
P. Duquesnoy,
J. Kouyoumdjian,
E. Girodon-Boulandet,
G. Grateau,
T. Sarkisian,
S. Amselem
|
7 |
2000 |
7
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Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
19 auth.
E. Kott,
P. Duquesnoy,
B. Copin,
M. Legendre,
F. Dastot‐Le Moal,
G. Montantin,
L. Jeanson,
A. Tamalet,
J. Papon,
J. Siffroi,
...
N. Rives,
V. Mitchell,
J. de Blic,
A. Coste,
A. Clément,
D. Escalier,
A. Touré,
E. Escudier,
S. Amselem
|
7 |
2012 |
7
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|
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Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
30 auth.
E. Kott,
M. Legendre,
B. Copin,
J. Papon,
F. Dastot‐Le Moal,
G. Montantin,
P. Duquesnoy,
William Piterboth,
D. Amram,
L. Bassinet,
J. Beucher,
N. Beydon,
E. Deneuville,
V. Houdouin,
H. Journel,
...
Jocelyne Just,
N. Nathan,
A. Tamalet,
N. Collot,
L. Jeanson,
Morgane Le Gouez,
Benoit Vallette,
Anne-Marie Vojtek,
R. Epaud,
A. Coste,
A. Clément,
B. Housset,
Bruno Louis,
E. Escudier,
S. Amselem
|
7 |
2013 |
7
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|
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A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH‐binding activity by abolishing receptor homodimerization.
11 auth.
P. Duquesnoy,
M. Sobrier,
B. Duriez,
F. Dastot,
C. Buchanan,
M. Savage,
...
M. Preece,
C. Craescu,
Y. Blouquit,
M. Goossens,
S. Amselem
|
7 |
1994 |
7
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|
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Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
18 auth.
P. Duquesnoy,
E. Escudier,
Laetitia Vincensini,
J. Freshour,
A. Bridoux,
A. Coste,
A. Deschildre,
J. de Blic,
M. Legendre,
G. Montantin,
...
Henrique Tenreiro,
Anne-Marie Vojtek,
C. Loussert,
A. Clément,
D. Escalier,
P. Bastin,
D. Mitchell,
S. Amselem
|
7 |
2009 |
7
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