Prof David Kelsell
Prof David Kelsell
Barts and the London Medical School, QMUL
Bestätigte E-Mail-Adresse bei - Startseite
Zitiert von
Zitiert von
Identification of the breast cancer susceptibility gene BRCA2
R Wooster, G Bignell, J Lancaster, S Swift, S Seal, J Mangion, N Collins, ...
Nature 378 (6559), 789-792, 1995
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
DP Kelsell, J Dunlop, HP Stevens, NJ Lench, JN Liang, G Parry, ...
Nature 387 (6628), 80-83, 1997
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
Multiple Leiomyoma Consortium
Nature genetics 30 (4), 406, 2002
Recessive mutation in desmoplakin disrupts desmoplakin–intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
EE Norgett, SJ Hatsell, L Carvajal-Huerta, JC Ruiz Cabezas, J Common, ...
Human molecular genetics 9 (18), 2761-2766, 2000
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
FJD Smith, RAJ Eady, IM Leigh, JR McMillan, EL Rugg, DP Kelsell, ...
Nature genetics 13 (4), 450-457, 1996
An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families
SA Narod, D Ford, P Devilee, RB Barkardottir, HT Lynch, SA Smith, ...
American journal of human genetics 56 (1), 254, 1995
Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism
C Szumlanski, D Otterness, C Her, D Lee, B Brandriff, D Kelsell, N Spurr, ...
DNA and cell biology 15 (1), 17-30, 1996
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
PD Kelsell, EE Norgett, H Unsworth, MT Teh, T Cullup, CA Mein, ...
The American Journal of Human Genetics 76 (5), 794-803, 2005
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency
NA Alam, AJ Rowan, NC Wortham, PJ Pollard, M Mitchell, JP Tyrer, ...
Human molecular genetics 12 (11), 1241-1252, 2003
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study.
SL Neuhausen, S Mazoyer, L Friedman, M Stratton, K Offit, A Caligo, ...
American journal of human genetics 58 (2), 271, 1996
Mutations in GJB6 cause hidrotic ectodermal dysplasia
J Lamartine, GM Essenfelder, Z Kibar, I Lanneluc, E Callouet, D Laoudj, ...
Nature genetics 26 (2), 142-144, 2000
Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion
DC Blaydon, P Biancheri, WL Di, V Plagnol, RM Cabral, MA Brooke, ...
New England Journal of Medicine 365 (16), 1502-1508, 2011
N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma
L Rickman, D Šimrak, HP Stevens, DM Hunt, IA King, SP Bryant, ...
Human molecular genetics 8 (6), 971-976, 1999
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24: literature survey and proposed updated …
HP Stevens, DP Kelsell, SP Bryant, DT Bishop, NK Spurr, J Weissenbach, ...
Archives of dermatology 132 (6), 640-651, 1996
Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome
NA Alam, E Barclay, AJ Rowan, JP Tyrer, E Calonje, S Manek, D Kelsell, ...
Archives of Dermatology 141 (2), 199-206, 2005
Cell–cell connectivity: desmosomes and disease
MA Brooke, D Nitoiu, DP Kelsell
The Journal of pathology 226 (2), 158-171, 2012
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases
S Rajpopat, C Moss, J Mellerio, A Vahlquist, A Gånemo, M Hellstrom-Pigg, ...
Archives of dermatology 147 (6), 681-686, 2011
Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event
MT Teh, D Blaydon, T Chaplin, NJ Foot, S Skoulakis, M Raghavan, ...
Cancer Research 65 (19), 8597-8603, 2005
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia
DC Blaydon, Y Ishii, EA O'Toole, HC Unsworth, MT Teh, F Rüschendorf, ...
Nature genetics 38 (11), 1245-1247, 2006
Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31
WL Di, EL Rugg, IM Leigh, DP Kelsell
Journal of Investigative Dermatology 117 (4), 958-964, 2001
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