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Philip Beales
Philip Beales
Professor of Genetics, University College London
Geverifieerd e-mailadres voor ucl.ac.uk
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The ciliopathies: an emerging class of human genetic disorders
JL Badano, N Mitsuma, PL Beales, N Katsanis
Annu. Rev. Genomics Hum. Genet. 7, 125-148, 2006
14272006
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
PL Beales, N Elcioglu, AS Woolf, D Parker, FA Flinter
Journal of medical genetics 36 (6), 437-446, 1999
11401999
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene
JB Li, JM Gerdes, CJ Haycraft, Y Fan, TM Teslovich, H May-Simera, H Li, ...
Cell 117 (4), 541-552, 2004
8652004
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
SJ Ansley, JL Badano, OE Blacque, J Hill, BE Hoskins, CC Leitch, ...
Nature 425 (6958), 628-633, 2003
8272003
Bardet–biedl syndrome
E Forsythe, PL Beales
European journal of human genetics 21 (1), 8-13, 2013
8152013
Ciliopathies: an expanding disease spectrum
AM Waters, PL Beales
Pediatric nephrology 26 (7), 1039-1056, 2011
8012011
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
N Katsanis, SJ Ansley, JL Badano, ER Eichers, RA Lewis, BE Hoskins, ...
Science 293 (5538), 2256-2259, 2001
7362001
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
AJ Ross, H May-Simera, ER Eichers, M Kai, J Hill, DJ Jagger, CC Leitch, ...
Nature genetics 37 (10), 1135-1140, 2005
6732005
Common genetic variation drives molecular heterogeneity in human iPSCs
H Kilpinen, A Goncalves, A Leha, V Afzal, K Alasoo, S Ashford, S Bala, ...
Nature 546 (7658), 370-375, 2017
5732017
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response
JM Gerdes, Y Liu, NA Zaghloul, CC Leitch, SS Lawson, M Kato, ...
Nature genetics 39 (11), 1350-1360, 2007
4732007
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
CC Leitch, NA Zaghloul, EE Davis, C Stoetzel, A Diaz-Font, S Rix, ...
Nature genetics 40 (4), 443-448, 2008
4682008
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
JC Kim, JL Badano, S Sibold, MA Esmail, J Hill, BE Hoskins, CC Leitch, ...
Nature genetics 36 (5), 462-470, 2004
4582004
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport
OE Blacque, MJ Reardon, C Li, J McCarthy, MR Mahjoub, SJ Ansley, ...
Genes & development 18 (13), 1630-1642, 2004
4492004
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
EA Otto, B Loeys, H Khanna, J Hellemans, R Sudbrak, S Fan, U Muerb, ...
Nature genetics 37 (3), 282-288, 2005
4312005
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
HM Kulaga, CC Leitch, ER Eichers, JL Badano, A Lesemann, BE Hoskins, ...
Nature genetics 36 (9), 994-998, 2004
4192004
Making sense of cilia in disease: the human ciliopathies
K Baker, PL Beales
American journal of medical genetics part C: seminars in medical genetics …, 2009
4182009
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
EE Davis, Q Zhang, Q Liu, BH Diplas, LM Davey, J Hartley, C Stoetzel, ...
Nature genetics 43 (3), 189-196, 2011
4082011
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
Y Fan, MA Esmail, SJ Ansley, OE Blacque, K Boroevich, AJ Ross, ...
Nature genetics 36 (9), 989-993, 2004
3872004
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
N Katsanis, PL Beales, MO Woods, RA Lewis, JS Green, PS Parfrey, ...
Nature genetics 26 (1), 67-70, 2000
3722000
Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: A 22‐year prospective, population‐based, cohort study
SJ Moore, JS Green, Y Fan, AK Bhogal, E Dicks, BA Fernandez, ...
American journal of medical genetics Part A 132 (4), 352-360, 2005
3662005
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