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Results: 1-10 |
Results: 10
Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene
Authors: Bell, R Brice, G Child, AH Murday, VA Mansour, S Sandy, CJ Collin, JRO Brady, AF Callen, DF Burnand, K Mortimer, P Jeffery, S
Citation: R. Bell et al., Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene, HUM GENET, 108(6), 2001, pp. 546-551
Rapid publication - Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
Authors: Mansour, S Woffendin, H Mitton, S Jeffery, I Jakins, T Kenwrick, S Murday, VA
Citation: S. Mansour et al., Rapid publication - Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection, AM J MED G, 99(2), 2001, pp. 172-177
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
Authors: Afzal, AR Rajab, A Fenske, CD Oldridge, M Elanko, N Ternes-Pereira, E Tuysuz, B Murday, VA Patton, MA Wilkie, AOM Jeffery, S
Citation: Ar. Afzal et al., Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2, NAT GENET, 25(4), 2000, pp. 419-422
Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22
Authors: Afzal, AR Rajab, A Fenske, C Crosby, A Lahiri, N Ternes-Pereira, E Murday, VA Houlston, R Patton, MA Jeffery, S
Citation: Ar. Afzal et al., Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22, HUM GENET, 106(3), 2000, pp. 351-354
Colonoscopy in symptomatic patients with positive family history of colorectal cancer
Authors: Charalambopoulos, A Syrigos, KN Ho, JL Murday, VA Leicester, RJ
Citation: A. Charalambopoulos et al., Colonoscopy in symptomatic patients with positive family history of colorectal cancer, ANTICANC R, 20(3B), 2000, pp. 1991-1994
Three novel mutations of the proto-oncogene KIT cause human piebaldism
Authors: Syrris, P Malik, NM Murday, VA Patton, MA Carter, ND Hughes, HE Metcalfe, K
Citation: P. Syrris et al., Three novel mutations of the proto-oncogene KIT cause human piebaldism, AM J MED G, 95(1), 2000, pp. 79-81
Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb
Authors: Bell, R Brice, G Child, AH Murday, VA Mansour, S Sandy, CJ Collin, JRO Mortimer, P Callen, DF Burnand, K Jeffery, S
Citation: R. Bell et al., Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb, J MED GENET, 37(9), 2000, pp. 725-726
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
Authors: Marsh, DJ Kum, JB Lunetta, KL Bennett, MJ Gorlin, RJ Ahmed, SF Bodurtha, J Crowe, C Curtis, MA Dasouki, M Dunn, T Feit, H Geraghty, MT Graham, JM Hodgson, SV Hunter, A Korf, BR Manchester, D Miesfeldt, S Murday, VA Nathanson, KL Parisi, M Pober, B Romano, C Tolmie, JL Trembath, R Winter, RM Zackai, EH Zori, RT Weng, LP Dahia, PLM Eng, C
Citation: Dj. Marsh et al., PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome, HUM MOL GEN, 8(8), 1999, pp. 1461-1472
Lack of c-kit mutation in familial urticaria pigmentosa
Authors: Rosbotham, JL Malik, NM Syrris, P Jeffery, S Bedlow, A Gharraie, S Murday, VA Holden, CA Carter, ND
Citation: Jl. Rosbotham et al., Lack of c-kit mutation in familial urticaria pigmentosa, BR J DERM, 140(5), 1999, pp. 849-852
A gene for lymphedema-distichiasis maps to 16q24.3
Authors: Mangion, J Rahman, N Mansour, S Brice, G Rosbotham, J Child, AH Murday, VA Mortimer, PS Barfoot, R Sigurdsson, A Edkins, S Sarfarazi, M Burnand, K Evans, AL Nunan, TO Stratton, MR Jeffery, S
Citation: J. Mangion et al., A gene for lymphedema-distichiasis maps to 16q24.3, AM J HU GEN, 65(2), 1999, pp. 427-432
Risultati: 1-10 |