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🐢
|
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
18 auth.
V. Pingault,
N. Bondurand,
K. Kuhlbrodt,
Derk E. Goerich,
M. Préhu,
A. Puliti,
Beate Herbarth,
I. Hermans-Borgmeyer,
E. Legius,
G. Matthijs,
...
J. Amiel,
S. Lyonnet,
I. Ceccherini,
G. Romeo,
Jill Clayton Smith,
A. Read,
M. Wegner,
M. Goossens
|
9 |
1998 |
9
🐢
|
|
🐬
|
Review and update of mutations causing Waardenburg syndrome
V. Pingault,
D. Ente,
F. Dastot‐Le Moal,
M. Goossens,
S. Marlin,
N. Bondurand
|
9 |
2010 |
9
🐬
|
|
🐢
|
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.
8 auth.
N. Bondurand,
V. Pingault,
Derk E. Goerich,
N. Lemort,
E. Sock,
C. Caignec,
...
M. Wegner,
M. Goossens
|
8 |
2000 |
8
🐢
|
|
🐜
|
Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.
12 auth.
H. Cuppens,
Wei Lin,
M. Jaspers,
B. Costes,
Hui Teng,
A. Vankeerberghen,
...
M. Jorissen,
G. Droogmans,
Ingrid Reynaert,
M. Goossens,
B. Nilius,
J. Cassiman
|
8 |
1998 |
8
🐜
|
|
🐜
|
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease.
9 auth.
Beate Herbarth,
V. Pingault,
N. Bondurand,
K. Kuhlbrodt,
I. Hermans-Borgmeyer,
A. Puliti,
...
N. Lemort,
M. Goossens,
M. Wegner
|
8 |
1998 |
8
🐜
|
|
🐜
|
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency
12 auth.
I. Netchine,
M. Sobrier,
H. Krude,
D. Schnabel,
M. Maghnie,
E. Marcos,
...
B. Duriez,
V. Cacheux,
A. V. Moers,
M. Goossens,
A. Grüters,
S. Amselem
|
8 |
2000 |
8
🐜
|
|
🐜
|
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.
66 auth.
S. Antonarakis,
J. Rossiter,
M. Young,
J. Horst,
P. Moerloose,
S. Sommer,
R. Ketterling,
H. Kazazian,
C. Négrier,
C. Vinciguerra,
J. Gitschier,
M. Goossens,
E. Girodon,
N. Ghanem,
F. Plassa,
...
J. Lavergne,
M. Vidaud,
J. M. Costa,
Y. Laurian,
S. W. Lin,
S. R. Lin,
M. Shen,
D. Lillicrap,
S. Taylor,
S. Windsor,
S. Valleix,
K. Nafa,
Y. Sultan,
M. Delpech,
C. Vnencak-Jones,
J. Phillips,
R. Ljung,
E. Koumbarelis,
A. Gialeraki,
T. Mandalaki,
P. Jenkins,
P. Collins,
K. Pasi,
A. Goodeve,
I. Peake,
F. Preston,
M. Schwartz,
E. Scheibel,
J. Ingerslev,
D. Cooper,
D. Millar,
V. Kakkar,
F. Giannelli,
J. Naylor,
E. Tizzano,
M. Baiget,
M. Doménech,
C. Altisent,
J. Tusell,
M. Beneyto,
J. Lorenzo,
C. Gaucher,
C. Mazurier,
K. Peerlinck,
G. Matthijs,
J. Cassiman,
J. Vermylen,
P. Mori,
M. Acquila,
D. Caprino,
H. Inaba
|
8 |
1995 |
8
🐜
|
|
🦁
|
DNA analysis in the diagnosis of hemoglobin disorders.
M. Goossens,
Y. Kan
|
8 |
1981 |
8
🦁
|
|
🐢
|
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
🐢
|
|
🐜
|
Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.
8 auth.
S. Chrétien,
A. Dubart,
D. Beaupain,
N. Raich,
Bernard Grandchamp,
J. Rosa,
...
M. Goossens,
P. Romeo
|
8 |
1988 |
8
🐜
|
|
🐜
|
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
18 auth.
N. Bondurand,
F. Dastot‐Le Moal,
Laure Stanchina,
N. Collot,
Viviane Baral,
S. Marlin,
T. Attié-Bitach,
I. Giurgea,
Laurent Skopinski,
W. Reardon,
...
A. Toutain,
P. Sarda,
Anis Echaieb,
M. Lackmy-Port-Lis,
R. Touraine,
J. Amiel,
M. Goossens,
V. Pingault
|
7 |
2007 |
7
🐜
|
|
🐜
|
Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.
18 auth.
T. Damy,
B. Costes,
A. Hagège,
E. Donal,
J. Eicher,
M. Slama,
A. Guellich,
S. Rappeneau,
J. Gueffet,
D. Logeart,
...
V. Planté-Bordeneuve,
H. Bouvaist,
O. Huttin,
G. Mulak,
J. Dubois-Randé,
M. Goossens,
F. Canoui-Poitrine,
J. Buxbaum
|
7 |
2016 |
7
🐜
|
