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🦁
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Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
17 auth.
S. J. Ansley,
José L. Badano,
O. Blacque,
Josephine Hill,
B. Hoskins,
C. C. Leitch,
Jun Chul Kim,
A. Ross,
E. Eichers,
Tanya M. Teslovich,
...
A. Mah,
R. Johnsen,
J. Cavender,
R. Lewis,
M. Leroux,
P. Beales,
N. Katsanis
|
9 |
2003 |
9
🦁
|
|
🐜
|
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
10 auth.
N. Katsanis,
S. J. Ansley,
José L. Badano,
E. Eichers,
R. Lewis,
B. Hoskins,
...
P. Scambler,
W. Davidson,
P. Beales,
J. Lupski
|
9 |
2001 |
9
🐜
|
|
🐜
|
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
13 auth.
Jun Chul Kim,
José L. Badano,
S. Sibold,
M. Esmail,
Josephine Hill,
B. Hoskins,
C. C. Leitch,
K. Venner,
S. J. Ansley,
A. Ross,
...
M. Leroux,
N. Katsanis,
P. Beales
|
8 |
2004 |
8
🐜
|
|
🐜
|
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.
18 auth.
O. Blacque,
M. Reardon,
Chunmei Li,
Jonathan McCarthy,
M. Mahjoub,
S. J. Ansley,
José L. Badano,
A. Mah,
P. Beales,
W. Davidson,
...
R. Johnsen,
M. Audeh,
R. Plasterk,
D. Baillie,
N. Katsanis,
L. Quarmby,
S. R. Wicks,
M. Leroux
|
8 |
2004 |
8
🐜
|
|
🐜
|
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
19 auth.
Yanli Fan,
M. Esmail,
S. J. Ansley,
O. Blacque,
Keith A. Boroevich,
A. Ross,
S. Moore,
José L. Badano,
H. May-Simera,
Deanna S Compton,
...
Jane S Green,
R. Lewis,
M. Haelst,
P. Parfrey,
D. Baillie,
P. Beales,
N. Katsanis,
W. Davidson,
M. Leroux
|
8 |
2004 |
8
🐜
|
|
🐜
|
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
9 auth.
N. Katsanis,
P. Beales,
M. Woods,
R. Lewis,
Jane S Green,
P. Parfrey,
...
S. J. Ansley,
W. Davidson,
J. Lupski
|
8 |
2000 |
8
🐜
|
|
🐜
|
Dissection of epistasis in oligogenic Bardet–Biedl syndrome
10 auth.
José L. Badano,
C. C. Leitch,
S. J. Ansley,
H. May-Simera,
Shaneka Lawson,
R. Lewis,
...
P. Beales,
H. Dietz,
S. Fisher,
N. Katsanis
|
8 |
2006 |
8
🐜
|
|
🐜
|
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
12 auth.
P. Beales,
José L. Badano,
A. Ross,
S. J. Ansley,
B. Hoskins,
Brigitta Kirsten,
...
C. Mein,
P. Froguel,
P. Scambler,
R. Lewis,
J. Lupski,
N. Katsanis
|
7 |
2003 |
7
🐜
|
|
🐬
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Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
José L. Badano,
S. J. Ansley,
C. C. Leitch,
R. Lewis,
J. Lupski,
N. Katsanis
|
7 |
2003 |
7
🐬
|
|
🐜
|
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
10 auth.
José L. Badano,
Jun Chul Kim,
B. Hoskins,
R. Lewis,
S. J. Ansley,
D. Cutler,
...
C. Castellan,
P. Beales,
M. Leroux,
N. Katsanis
|
7 |
2003 |
7
🐜
|
|
🐜
|
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
9 auth.
N. Katsanis,
E. Eichers,
S. J. Ansley,
R. Lewis,
H. Kayserili,
B. Hoskins,
...
P. Scambler,
P. Beales,
J. Lupski
|
6 |
2002 |
6
🐜
|
