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Peter Scambler
Peter Scambler
Emeritus Professor of Molecular Medicine
Bestätigte E-Mail-Adresse bei ich.ucl.ac.uk
Titel
Zitiert von
Zitiert von
Jahr
Localization of the gene for familial adenomatous polyposis on chromosome 5
WF Bodmer, CJ Bailey, J Bodmer, HJR Bussey, A Ellis, P Gorman, ...
Nature 328 (6131), 614-616, 1987
18661987
Distinct factors control histone variant H3. 3 localization at specific genomic regions
AD Goldberg, LA Banaszynski, KM Noh, PW Lewis, SJ Elsaesser, ...
Cell 140 (5), 678-691, 2010
12872010
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
AK Ryan, JA Goodship, DI Wilson, N Philip, A Levy, H Seidel, ...
Journal of medical genetics 34 (10), 798-804, 1997
12751997
Hyperdynamic plasticity of chromatin proteins in pluripotent embryonic stem cells
E Meshorer, D Yellajoshula, E George, PJ Scambler, DT Brown, T Misteli
Developmental cell 10 (1), 105-116, 2006
11462006
22q11. 2 deletion syndrome
DM McDonald-McGinn, KE Sullivan, B Marino, N Philip, A Swillen, ...
Nature reviews Disease primers 1 (1), 1-19, 2015
10602015
Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
EA Lindsay, F Vitelli, H Su, M Morishima, T Huynh, T Pramparo, V Jurecic, ...
Nature 410 (6824), 97-101, 2001
10532001
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome
S Merscher, B Funke, JA Epstein, J Heyer, A Puech, MM Lu, RJ Xavier, ...
Cell 104 (4), 619-629, 2001
10142001
The gene for familial polyposis coli maps to the long arm of chromosome 5
M Leppert, M Dobbs, P Scambler, P O'connell, Y Nakamura, D Stauffer, ...
Science 238 (4832), 1411-1413, 1987
8151987
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
7072001
DiGeorge syndrome: part of CATCH 22.
DI Wilson, J Burn, P Scambler, J Goodship
Journal of medical genetics 30 (10), 852-856, 1993
6481993
Localization of cystic fibrosis locus to human chromosome 7cen–q22
BJ Wainwright, PJ Scambler, J Schmidtke, EA Watson, HY Law, M Farrall, ...
Nature 318 (6044), 384-385, 1985
6111985
The 22q11 deletion syndromes
PJ Scambler
Human molecular genetics 9 (16), 2421-2426, 2000
5722000
Velo‐cardio‐facial syndrome: A review of 120 patients
R Goldberg, B Motzkin, R Marion, PJ Scambler, RJ Shprintzen
American journal of medical genetics 45 (3), 313-319, 1993
5061993
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
PJ Scambler, D Kelly, E Lindsay, R Williamson, R Goldberg, R Shprintzen, ...
The Lancet 339 (8802), 1138-1139, 1992
4921992
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1+/− KTS splice isoforms
B Klamt, A Koziell, F Poulat, P Wieacker, P Scambler, P Berta, M Gessler
Human molecular genetics 7 (4), 709-714, 1998
4191998
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
C Carlson, H Sirotkin, R Pandita, R Goldberg, J McKie, R Wadey, ...
The American Journal of Human Genetics 61 (3), 620-629, 1997
4091997
A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands
X Estivill, M Farrall, PJ Scambler, GM Bell, KMF Hawley, NJ Lench, ...
Nature 326 (6116), 840-845, 1987
4021987
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
3862011
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
DJ Shears, HJ Vassal, FR Goodman, RW Palmer, W Reardon, ...
Nature genetics 19 (1), 70-73, 1998
3711998
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration
A Koziell, V Grech, S Hussain, G Lee, U Lenkkeri, K Tryggvason, ...
Human molecular genetics 11 (4), 379-388, 2002
3632002
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