|
🐜
|
SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma
14 auth.
Huai-Xiang Hao,
O. Khalimonchuk,
M. Schraders,
Noah E. Dephoure,
J. Bayley,
H. Kunst,
P. Devilee,
C. Cremers,
J. Schiffman,
B. Bentz,
...
S. Gygi,
D. Winge,
H. Kremer,
J. Rutter
|
9 |
2009 |
9
🐜
|
|
🐜
|
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
24 auth.
J. Bayley,
H. Kunst,
A. Cascón,
M. Sampietro,
J. Gaal,
E. Korpershoek,
A. Hinojar-Gutiérrez,
Henri J L M Timmers,
L. Hoefsloot,
Mario A Hermsen,
...
C. Suárez,
A. Hussain,
A. Vriends,
F. Hes,
J. Jansen,
C. Tops,
E. Corssmit,
Peter de Knijff,
J. Lenders,
Cor WRJ Cremers,
P. Devilee,
W. Dinjens,
R. de Krijger,
M. Robledo
|
8 |
2010 |
8
🐜
|
|
🐜
|
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
20 auth.
W. McGuirt,
S. Prasad,
A. Griffith,
H. Kunst,
G. Green,
Karl B Shpargel,
Christina L. Runge,
C. Huybrechts,
R. Mueller,
E. Lynch,
...
M. King,
H. Brunner,
C. Cremers,
M. Takanosu,
Shi-wu Li,
M. Arita,
R. Mayne,
D. Prockop,
G. Camp,
Richard J. H. Smith
|
7 |
1999 |
7
🐜
|
|
🦁
|
SDHAF2 (PGL2-SDH5) and Hereditary Head and Neck Paraganglioma
10 auth.
H. Kunst,
M. Rutten,
J. D. de Mönnink,
L. Hoefsloot,
H. Timmers,
H. Marres,
...
J. C. Jansen,
H. Kremer,
J. Bayley,
C. Cremers
|
7 |
2011 |
7
🦁
|
|
🐜
|
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
30 auth.
C. Zazo Seco,
Mieke Wesdorp,
I. Feenstra,
R. Pfundt,
J. Hehir-Kwa,
Stefan H. Lelieveld,
Steven Castelein,
C. Gilissen,
I. D. de Wijs,
R. Admiraal,
R. Pennings,
H. Kunst,
J. M. van de Kamp,
Saskia Tamminga,
A. Houweling,
...
A. Plomp,
S. Maas,
P. A. M. de Koning Gans,
S. Kant,
C. D. de Geus,
S. Frints,
E. Vanhoutte,
M. V. van Dooren,
M. H. van den Boogaard,
H. Scheffer,
M. Nelen,
H. Kremer,
L. Hoefsloot,
M. Schraders,
H. Yntema
|
6 |
2016 |
6
🐜
|
|
🐜
|
International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers
30 auth.
L. Amar,
K. Pacak,
O. Steichen,
S. Akker,
S. Aylwin,
E. Baudin,
A. Buffet,
N. Burnichon,
R. Clifton-Bligh,
P. Dahia,
M. Fassnacht,
A. Grossman,
P. Herman,
R. Hicks,
A. Januszewicz,
...
C. Jimenez,
H. Kunst,
D. Lewis,
M. Mannelli,
M. Naruse,
M. Robledo,
D. Taïeb,
D. R. Taylor,
H. Timmers,
G. Treglia,
N. Tufton,
W. Young,
J. Lenders,
A. Gimenez-Roqueplo,
Charlotte Lussey-Lepoutre
|
6 |
2021 |
6
🐜
|
|
🐜
|
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
13 auth.
M. Schraders,
S. Haas,
N. Weegerink,
J. Oostrik,
Hao Hu,
L. Hoefsloot,
S. Kannan,
P. Huygen,
R. Pennings,
R. Admiraal,
...
V. Kalscheuer,
H. Kunst,
H. Kremer
|
6 |
2011 |
6
🐜
|
|
🐜
|
Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors
16 auth.
A. Hoekstra,
Marieke A. de Graaff,
I. B. Briaire-de Bruijn,
C. Ras,
R. M. Seifar,
Ivonne van Minderhout,
C. Cornelisse,
P. Hogendoorn,
M. Breuning,
J. Suijker,
...
E. Korpershoek,
H. Kunst,
N. Frizzell,
P. Devilee,
J. Bayley,
J. Bovée
|
6 |
2015 |
6
🐜
|
|
🐜
|
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.
10 auth.
M. Schraders,
J. Oostrik,
P. Huygen,
T. Strom,
E. van Wijk,
H. Kunst,
...
L. Hoefsloot,
C. Cremers,
R. Admiraal,
H. Kremer
|
6 |
2010 |
6
🐜
|
|
🐜
|
Gamma Knife radiosurgery for vestibular schwannomas: evaluation of tumor control and its predictors in a large patient cohort in The Netherlands.
7 auth.
S. Klijn,
Jeroen B. Verheul,
G. Beute,
S. Leenstra,
J. Mulder,
H. Kunst,
...
P. Hanssens
|
6 |
2016 |
6
🐜
|
|
🐜
|
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
21 auth.
M. Schraders,
L. Ruiz-Palmero,
E. Kalay,
J. Oostrik,
F. D. del Castillo,
O. Sezgin,
A. Beynon,
T. Strom,
R. Pennings,
C. Zazo Seco,
...
Anne M. M. Oonk,
H. Kunst,
María Domínguez-Ruiz,
A. M. García-Arumí,
M. Del Campo,
M. Villamar,
L. Hoefsloot,
F. Moreno,
R. Admiraal,
I. del Castillo,
H. Kremer
|
6 |
2012 |
6
🐜
|
