|
🦁
|
Prolactin (PRL) and its receptor: actions, signal transduction pathways and phenotypes observed in PRL receptor knockout mice.
C. Bôle-Feysot,
V. Goffin,
M. Edery,
N. Binart,
P. Kelly
|
10 |
1998 |
10
🦁
|
|
🐜
|
Targeted therapy in patients with PIK3CA-related overgrowth syndrome
36 auth.
Quitterie Venot,
T. Blanc,
S. H. Rabia,
L. Berteloot,
Sophia Ladraa,
J. Duong,
E. Blanc,
Simon C. Johnson,
Clément Hoguin,
O. Boccara,
S. Sarnacki,
N. Boddaert,
S. Pannier,
F. Martínez,
S. Magassa,
...
Junna Yamaguchi,
B. Knebelmann,
P. Merville,
N. Grenier,
D. Joly,
V. Cormier-Daire,
C. Michot,
C. Bôle-Feysot,
A. Picard,
V. Soupre,
S. Lyonnet,
J. Sadoine,
L. Slimani,
C. Chaussain,
C. Laroche-Raynaud,
L. Guibaud,
C. Broissand,
J. Amiel,
C. Legendre,
F. Terzi,
G. Canaud
|
8 |
2018 |
8
🐜
|
|
🐜
|
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
45 auth.
S. Ashraf,
H. Gee,
S. Woerner,
Letian X. Xie,
V. Vega-Warner,
S. Lovric,
H. Fang,
Xuewen Song,
D. Cattran,
C. Avila-Casado,
A. Paterson,
P. Nitschké,
C. Bôle-Feysot,
P. Cochat,
J. Esteve-Rudd,
...
Birgit Haberberger,
Susan J Allen,
Weibin Zhou,
R. Airik,
E. Otto,
M. Barua,
M. Al-Hamed,
J. Kari,
Jonathan Evans,
A. Bierzynska,
M. Saleem,
D. Böckenhauer,
R. Kleta,
S. E. El desoky,
D. Hacıhamdioğlu,
F. Gok,
J. Washburn,
R. Wiggins,
Murim Choi,
R. Lifton,
S. Levy,
Zhe Han,
L. Salviati,
H. Prokisch,
David S. Williams,
M. Pollak,
C. Clarke,
Y. Pei,
C. Antignac,
F. Hildebrandt
|
8 |
2013 |
8
🐜
|
|
🐜
|
FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.
12 auth.
H. Barak,
S. Huh,
Shuang Chen,
C. Jeanpierre,
J. Martinovic,
M. Parisot,
...
C. Bôle-Feysot,
P. Nitschké,
R. Salomon,
C. Antignac,
D. Ornitz,
Raphael Kopan
|
8 |
2012 |
8
🐜
|
|
🐜
|
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
39 auth.
A. Putoux,
Sophie Thomas,
K. Coene,
E. Davis,
Y. Alanay,
G. Oǧur,
E. Uz,
Daniela Buzas,
C. Gomes,
S. Patrier,
C. L. Bennett,
Nadia Elkhartoufi,
M. Frison,
L. Rigonnot,
N. Joyē,
...
Solenn Pruvost,
G. Utine,
K. Boduroğlu,
P. Nitschké,
L. Fertitta,
C. Thauvin-Robinet,
A. Munnich,
V. Cormier-Daire,
R. Hennekam,
E. Colin,
N. Akarsu,
C. Bôle-Feysot,
N. Cagnard,
A. Schmitt,
Nicolas Goudin,
S. Lyonnet,
F. Encha-Razavi,
J. Siffroi,
M. Winey,
N. Katsanis,
M. Gonzalès,
M. Vekemans,
P. Beales,
T. Attié-Bitach
|
7 |
2011 |
7
🐜
|
|
🐜
|
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
28 auth.
C. Bredrup,
S. Saunier,
M. Oud,
T. Fiskerstrand,
A. Hoischen,
D. Brackman,
S. Leh,
Marit Midtbø,
E. Filhol,
C. Bôle-Feysot,
P. Nitschké,
C. Gilissen,
O. Haugen,
J. Sanders,
I. Stolte-Dijkstra,
...
D. Mans,
E. Steenbergen,
B. Hamel,
M. Matignon,
R. Pfundt,
C. Jeanpierre,
H. Boman,
E. Rødahl,
J. Veltman,
P. Knappskog,
N. Knoers,
R. Roepman,
H. Arts
|
7 |
2011 |
7
🐜
|
|
🐜
|
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
39 auth.
Carine Le Goff,
Clémentine Mahaut,
Lauren W. Wang,
S. Allali,
A. Abhyankar,
S. Jensen,
L. Zylberberg,
G. Collod-Béroud,
D. Bonnet,
Y. Alanay,
A. Brady,
M. Cordier,
K. Devriendt,
D. Geneviève,
P. O. S. Kiper,
...
H. Kitoh,
D. Krakow,
S. Lynch,
M. le Merrer,
A. Mégarbané,
G. Mortier,
S. Odent,
M. Polak,
M. Rohrbach,
D. Sillence,
I. Stolte-Dijkstra,
A. Superti-Furga,
D. Rimoin,
V. Topouchian,
S. Unger,
B. Zabel,
C. Bôle-Feysot,
P. Nitschké,
P. Handford,
J. Casanova,
C. Boileau,
S. Apte,
A. Munnich,
V. Cormier-Daire
|
7 |
2011 |
7
🐜
|
|
🐜
|
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
49 auth.
J. Halbritter,
A. Bizet,
M. Schmidts,
J. Porath,
D. Braun,
H. Gee,
A. McInerney-Leo,
P. Krug,
E. Filhol,
E. Davis,
R. Airik,
P. Czarnecki,
A. Lehman,
P. Trnka,
P. Nitschké,
...
C. Bôle-Feysot,
M. Schueler,
B. Knebelmann,
S. Burtey,
A. Szabó,
K. Tory,
P. Leo,
B. Gardiner,
F. McKenzie,
A. Zankl,
M. Brown,
J. Hartley,
E. Maher,
Chunmei Li,
M. Leroux,
P. Scambler,
S. Zhan,
Steven J. M. Jones,
H. Kayserili,
B. Tuysuz,
K. Moorani,
Alexandru R. Constantinescu,
I. Krantz,
B. Kaplan,
J. Shah,
T. Hurd,
D. Doherty,
N. Katsanis,
E. Duncan,
E. Otto,
P. Beales,
H. Mitchison,
S. Saunier,
F. Hildebrandt
|
7 |
2013 |
7
🐜
|
|
🐜
|
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
30 auth.
I. Perrault,
S. Saunier,
S. Hanein,
E. Filhol,
A. Bizet,
F. Collins,
M. Salih,
S. Gerber,
N. Delphin,
K. Bigot,
C. Orssaud,
Eduardo Silva,
V. Baudouin,
M. Oud,
N. Shannon,
...
M. le Merrer,
O. Roche,
C. Pietrement,
Jamal Goumid,
C. Baumann,
C. Bôle-Feysot,
P. Nitschké,
Mohammed Zahrate,
P. Beales,
H. Arts,
A. Munnich,
J. Kaplan,
C. Antignac,
V. Cormier-Daire,
J. Rozet
|
7 |
2012 |
7
🐜
|
|
🐜
|
TTC7A mutations disrupt intestinal epithelial apicobasal polarity.
22 auth.
A. Bigorgne,
H. Farin,
R. Lemoine,
N. Mahlaoui,
N. Lambert,
Marine Gil,
A. Schulz,
P. Philippet,
P. Schlesser,
T. Abrahamsen,
...
K. Oymar,
E. Davies,
C. Ellingsen,
E. Leteurtre,
Brigitte Moreau-Massart,
D. Berrebi,
C. Bôle-Feysot,
Patrick Nischké,
N. Brousse,
A. Fischer,
H. Clevers,
G. de Saint Basile
|
7 |
2014 |
7
🐜
|
|
🐜
|
Increased Proteasome-Mediated Degradation of Occludin in Irritable Bowel Syndrome
12 auth.
M. Coëffier,
R. Gloro,
N. Boukhettala,
M. Aziz,
S. Lecleire,
N. Vandaele,
...
M. Antonietti,
G. Savoye,
C. Bôle-Feysot,
P. Déchelotte,
J. Reimund,
P. Ducrotte
|
7 |
2010 |
7
🐜
|
|
🐜
|
Autoantibodies against appetite-regulating peptide hormones and neuropeptides: Putative modulation by gut microflora
7 auth.
S. Fetissov,
M. Hamze Sinno,
M. Coëffier,
C. Bôle-Feysot,
P. Ducrotte,
T. Hökfelt,
...
P. Déchelotte
|
7 |
2008 |
7
🐜
|
