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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
10 auth.
C. Bennett,
J. Christie,
F. Ramsdell,
M. Brunkow,
P. Ferguson,
L. Whitesell,
...
T. Kelly,
F. Saulsbury,
P. Chance,
H. Ochs
|
11 |
2001 |
11
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|
|
🐜
|
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
19 auth.
Yingzhang Chen,
C. Bennett,
H. M. Huynh,
I. Blair,
I. Puls,
J. Irobi,
I. Dierick,
A. Abel,
M. Kennerson,
B. A. Rabin,
...
G. Nicholson,
M. Auer-Grumbach,
K. Wagner,
P. de Jonghe,
J. Griffin,
K. Fischbeck,
V. Timmerman,
D. Cornblath,
P. Chance
|
9 |
2004 |
9
🐜
|
|
🐜
|
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
10 auth.
M. Parisi,
C. Bennett,
M. Eckert,
W. Dobyns,
J. Gleeson,
D. Shaw,
...
R. McDonald,
A. Eddy,
P. Chance,
I. Glass
|
7 |
2004 |
7
🐜
|
|
🦁
|
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome
9 auth.
C. Bennett,
M. Brunkow,
F. Ramsdell,
K. O'Briant,
Qili Zhu,
R. Fuleihan,
...
A. Shigeoka,
H. Ochs,
P. Chance
|
7 |
2001 |
7
🦁
|
|
🐜
|
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C
10 auth.
V. A. Street,
C. Bennett,
J. Goldy,
A. Shirk,
K. Kleopa,
B. Tempel,
...
H. Lipe,
S. Scherer,
T. Bird,
P. Chance
|
7 |
2003 |
7
🐜
|
|
🦁
|
IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena
C. Bennett,
H. Ochs
|
7 |
2001 |
7
🦁
|
|
🐜
|
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
17 auth.
M. Parisi,
D. Doherty,
M. Eckert,
Dennis W. W. Shaw,
H. Ozyurek,
S. Aysun,
O. Giray,
Abdulrahman Swaid,
S. A. Shahwan,
N. Dohayan,
...
E. Bakhsh,
O. Indridason,
W. Dobyns,
C. Bennett,
F. Phillip,
Chance,
I. Glass
|
6 |
2005 |
6
🐜
|
|
🐢
|
Senataxin, the yeast Sen1p orthologue: Characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease
9 auth.
Yingzhang Chen,
Sayed H. Hashemi,
S. Anderson,
Yongzhao Huang,
M. Moreira,
D. Lynch,
...
I. Glass,
P. Chance,
C. Bennett
|
6 |
2006 |
6
🐢
|
|
🐜
|
Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5.
9 auth.
Yi-zhi Chen,
Qing-ning Gao,
Xue-zhi Zhao,
Yingzhang Chen,
C. Bennett,
Xi-shan Xiong,
...
C. Mei,
Yong-Quan Shi,
Xiang-mei Chen
|
6 |
2010 |
6
🐜
|
|
🦁
|
X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.
7 auth.
C. Bennett,
R. Yoshioka,
H. Kiyosawa,
D. Barker,
P. Fain,
A. Shigeoka,
...
P. Chance
|
6 |
2000 |
6
🦁
|
|
🐢
|
SIMPLE interacts with NEDD4 and TSG101: Evidence for a role in lysosomal sorting and implications for Charcot‐Marie‐Tooth disease
A. Shirk,
S. Anderson,
Sayed H. Hashemi,
P. Chance,
C. Bennett
|
6 |
2005 |
6
🐢
|
|
🦁
|
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine‐dependent seizure (PDS) patients
C. Bennett,
Yingzhang Chen,
S. Hahn,
I. Glass,
SIDNEY M GOSPE JR
|
6 |
2009 |
6
🦁
|
