|
🐜
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Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
9 auth.
Y. D. de Kok,
SM van der Maarel,
M. Bitner-Glindzicz,
I. Huber,
A. Monaco,
S. Malcolm,
...
M. Pembrey,
H. Ropers,
F. Cremers
|
8 |
1995 |
8
🐜
|
|
🐜
|
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
17 auth.
N. Quaderi,
S. Schweiger,
K. Gaudenz,
B. Franco,
E. Rugarli,
W. Berger,
G. Feldman,
M. Volta,
G. Andolfi,
S. Gilgenkrantz,
...
R. Marion,
R. Hennekam,
J. Opitz,
M. Muenke,
H. Ropers,
H. Ropers,
A. Ballabio
|
8 |
1997 |
8
🐜
|
|
🐜
|
Positional cloning of the gene for X-linked retinitis pigmentosa 2
16 auth.
U. Schwahn,
S. Lenzner,
Juan Dong,
S. Feil,
B. Hinzmann,
G. Duijnhoven,
R. Kirschner,
M. Hemberger,
A. Bergen,
T. Rosenberg,
...
A. Pinckers,
R. Fundele,
A. Rosenthal,
F. Cremers,
H. Ropers,
W. Berger
|
8 |
1998 |
8
🐜
|
|
🐢
|
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
19 auth.
R. Ullmann,
G. Turner,
M. Kirchhoff,
Wei Chen,
B. Tonge,
C. Rosenberg,
M. Field,
A. Vianna-Morgante,
Louise Christie,
A. Krepischi-Santos,
...
Lynn Banna,
A. Brereton,
A. Hill,
Anne-Marie Bisgaard,
I. Müller,
C. Hultschig,
F. Erdogan,
Georg Wieczorek,
H. Ropers
|
8 |
2007 |
8
🐢
|
|
🐜
|
Isolation of a candidate gene for Norrie disease by positional cloning
15 auth.
W. Berger,
A. Meindl,
T. Pol,
F. Cremers,
H. Ropers,
C. Döerner,
A. Monaco,
A. Bergen,
R. Lebo,
M. Warburg,
...
L. Zergollern,
B. Lorenz,
A. Gal,
E. Bleeker-Wagemakers,
T. Meitinger
|
7 |
1992 |
7
🐜
|
|
🐜
|
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
18 auth.
F. Laumonnier,
S. Holbert,
N. Ronce,
F. Faravelli,
S. Lenzner,
C. Schwartz,
J. Lespinasse,
H. Esch,
D. Lacombe,
C. Goizet,
...
F. Tuy,
J. V. Bokhoven,
J. Fryns,
J. Chelly,
H. Ropers,
C. Moraine,
B. Hamel,
S. Briault
|
7 |
2005 |
7
🐜
|
|
🐜
|
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
21 auth.
F. Laumonnier,
F. Laumonnier,
F. Laumonnier,
C. Shoubridge,
C. Antar,
L. Nguyen,
H. Esch,
T. Kleefstra,
S. Briault,
J. Fryns,
...
B. Hamel,
J. Chelly,
H. Ropers,
N. Ronce,
S. Blesson,
C. Moraine,
C. Moraine,
C. Moraine,
J. Gécz,
J. Gécz,
M. Raynaud
|
7 |
2010 |
7
🐜
|
|
🐜
|
ST3GAL3 mutations impair the development of higher cognitive functions.
16 auth.
Hao Hu,
Katinka Eggers,
Wei Chen,
M. Garshasbi,
M. Motazacker,
K. Wrogemann,
K. Kahrizi,
A. Tzschach,
M. Hosseini,
I. Bahman,
...
T. Hucho,
M. Mühlenhoff,
R. Gerardy-Schahn,
H. Najmabadi,
H. Ropers,
A. W. Kuss
|
6 |
2011 |
6
🐜
|
|
🐜
|
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes
11 auth.
J. Wirth,
H. Nothwang,
S. V. D. Maarel,
C. Menzel,
G. Borck,
I. López‐Pajares,
...
K. Brøndum‐Nielsen,
N. Tommerup,
M. Bugge,
H. Ropers,
T. Haaf
|
6 |
1999 |
6
🐜
|
|
🐜
|
Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene.
8 auth.
H. Kremer,
P. Zeeuwen,
W. McLean,
E. Mariman,
E. Lane,
C. M. van de Kerkhof,
...
H. Ropers,
P. Steijlen
|
6 |
1994 |
6
🐜
|
|
🐢
|
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223
7 auth.
Luciano Tiepolo,
O. Zuffardi,
M. Fraccaro,
D. Natale,
L. Gargantini,
C. Müller,
...
H. Ropers
|
6 |
2004 |
6
🐢
|
