|
🐜
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A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
12 auth.
E. Verpy,
M. Leibovici,
I. Zwaenepoel,
X. Liu,
A. Gal,
N. Salem,
...
A. Mansour,
S. Blanchard,
I. Kobayashi,
B. Keats,
R. Slim,
C. Petit
|
8 |
2000 |
8
🐜
|
|
🦁
|
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
7 auth.
X. Liu,
J. Walsh,
P. Mburu,
J. Kendrick-jones,
M. Cope,
K. Steel,
...
S. D. Brown
|
8 |
1997 |
8
🦁
|
|
🐢
|
Neurotransmitters: The Critical Modulators Regulating Gut–Brain Axis
13 auth.
R. Mittal,
Luca H Debs,
Amit P. Patel,
Desiree Nguyen,
Kunal Patel,
Gregory O’Connor,
M. Grati,
Jeenu Mittal,
D. Yan,
A. Eshraghi,
...
S. Deo,
S. Daunert,
X. Liu
|
8 |
2017 |
8
🐢
|
|
🐜
|
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
24 auth.
P. Mburu,
M. Mustapha,
A. Varela,
D. Weil,
A. El-Amraoui,
R. Holme,
A. Rump,
R. Hardisty,
S. Blanchard,
R. Coimbra,
...
Isabelle Perfettini,
Nick Parkinson,
A. Mallon,
P. Glenister,
M. J. Rogers,
A. Paige,
L. Moir,
J. Clay,
A. Rosenthal,
X. Liu,
G. Blanco,
K. Steel,
C. Petit,
Steve D. M. Brown
|
8 |
2003 |
8
🐜
|
|
🐜
|
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
20 auth.
M. Bitner-Glindzicz,
K. Lindley,
P. Rutland,
D. Blaydon,
V. Smith,
P. Milla,
K. Hussain,
J. Furth-Lavi,
K. Cosgrove,
R. M. Shepherd,
...
P. D. Barnes,
R. O'Brien,
P. Farndon,
J. Sowden,
X. Liu,
M. Scanlan,
S. Malcolm,
M. Dunne,
A. Aynsley-Green,
B. Glaser
|
8 |
2000 |
8
🐜
|
|
🦁
|
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
7 auth.
X. Liu,
J. Walsh,
Y. Tamagawa,
K. Kitamura,
M. Nishizawa,
K. Steel,
...
Steve D. M. Brown
|
8 |
1997 |
8
🦁
|
|
🐢
|
Current concepts in the pathogenesis and treatment of chronic suppurative otitis media.
14 auth.
R. Mittal,
Christopher V Lisi,
R. Gerring,
Jeenu Mittal,
K. Mathee,
G. Narasimhan,
R. Azad,
Q. Yao,
M. Grati,
D. Yan,
...
A. Eshraghi,
S. Angeli,
F. Telischi,
X. Liu
|
7 |
2015 |
7
🐢
|
|
🦁
|
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss.
17 auth.
X. Liu,
O. Xiao,
X. Xia,
Jing Zheng,
A. Pandya,
Fang Li,
L. Du,
K. O. Welch,
C. Petit,
Richard J. H. Smith,
...
B. Webb,
D. Yan,
K. Arnos,
D. Corey,
P. Dallos,
W. Nance,
Zheng-Yi Chen
|
7 |
2003 |
7
🦁
|
|
🐢
|
Genetics and pathological mechanisms of Usher syndrome
D. Yan,
X. Liu
|
7 |
2010 |
7
🐢
|
|
🦁
|
The prevalence of connexin 26 (GJB2) mutations in the Chinese population
11 auth.
X. Liu,
X. Xia,
X. Ke,
O. Xiao,
L. Du,
Y. Liu,
...
S. Angeli,
F. Telischi,
W. Nance,
T. Balkany,
Li Xu
|
7 |
2002 |
7
🦁
|
|
🐜
|
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22
15 auth.
I. Zwaenepoel,
M. Mustapha,
M. Leibovici,
E. Verpy,
R. Goodyear,
X. Liu,
Sylvie Nouaille,
W. Nance,
Moien Kanaan,
K. Avraham,
...
F. Tekaia,
J. Loiselet,
M. Lathrop,
G. Richardson,
C. Petit
|
7 |
2002 |
7
🐜
|
