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Results: 1-18 |
Results: 18
Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange Syndrome
Authors: Krantz, ID Tonkin, E Smith, M Devoto, M Bottani, A Simpson, C Hofreiter, M Abraham, V Jukofsky, L Conti, BP Strachan, T Jackson, L
Citation: Id. Krantz et al., Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange Syndrome, AM J MED G, 101(2), 2001, pp. 120-129
Molecular cytogenetic definition of 17q translocation breakpoints in neuroblastoma
Authors: Lastowska, M Van Roy, N Bown, N Speleman, F Roberts, P Lunec, J Strachan, T Pearson, ADJ Jackson, MS
Citation: M. Lastowska et al., Molecular cytogenetic definition of 17q translocation breakpoints in neuroblastoma, MED PED ONC, 36(1), 2001, pp. 20-23
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump
Authors: Sudbrak, R Brown, J Dobson-Stone, C Carter, S Ramser, J White, J Healy, E Dissanayake, M Larregue, M Perrussel, M Lehrach, H Munro, CS Strachan, T Burge, S Hovnanian, A Monaco, AP
Citation: R. Sudbrak et al., Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump, HUM MOL GEN, 9(7), 2000, pp. 1131-1140
The short stature homeobox gene SHOX is involved in skeletal abnormalitiesin Turner syndrome
Authors: Clement-Jones, M Schiller, S Rao, E Blaschke, RJ Zuniga, A Zeller, R Robson, SC Binder, G Glass, I Strachan, T Lindsay, S Rappold, GA
Citation: M. Clement-jones et al., The short stature homeobox gene SHOX is involved in skeletal abnormalitiesin Turner syndrome, HUM MOL GEN, 9(5), 2000, pp. 695-702
Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes
Authors: Fougerousse, F Bullen, P Herasse, M Lindsay, S Richard, I Wilson, D Suel, L Durand, M Robson, S Abitbol, M Beckmann, JS Strachan, T
Citation: F. Fougerousse et al., Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes, HUM MOL GEN, 9(2), 2000, pp. 165-173
SRY, SOX9, and DAX1 expression patterns during human sex determination andgonadal development
Authors: Hanley, NA Hagan, DM Clement-Jones, M Ball, SG Strachan, T Salas-Cortes, L McElreavey, K Lindsay, S Robson, S Bullen, P Ostrer, H Wilson, DI
Citation: Na. Hanley et al., SRY, SOX9, and DAX1 expression patterns during human sex determination andgonadal development, MECH DEVEL, 91(1-2), 2000, pp. 403-407
Autosomal dominant sacral agenesis: Currarino syndrome
Authors: Lynch, SA Wang, YM Strachan, T Burn, J Lindsay, S
Citation: Sa. Lynch et al., Autosomal dominant sacral agenesis: Currarino syndrome, J MED GENET, 37(8), 2000, pp. 561-566
Clinical and molecular correlates of somatic mosaicism in neurofibromatosis 2
Authors: Baser, ME Wallace, AJ Strachan, T Evans, DGR
Citation: Me. Baser et al., Clinical and molecular correlates of somatic mosaicism in neurofibromatosis 2, J MED GENET, 37(7), 2000, pp. 542-543
Mutation analysis and embryonic expression of the HLXB9 Currarino syndromegene (vol 66, pg 1504, 2000)
Authors: Hagan, DM Ross, AJ Strachan, T Lynch, SA Ruiz-Perez, V Wang, YM Scambler, P
Citation: Dm. Hagan et al., Mutation analysis and embryonic expression of the HLXB9 Currarino syndromegene (vol 66, pg 1504, 2000), AM J HU GEN, 67(3), 2000, pp. 769-769
Mutation analysis and embryonic expression of the HLXB9 Currarino syndromegene
Authors: Hagan, DM Ross, AJ Strachan, T Lynch, SA Ruiz-Perez, V Wang, YM Scambler, P Custard, E Reardon, W Hassan, S Muenke, M Nixon, P Papapetrou, C Winter, RM Edwards, Y Morrison, K Barrow, M Cordier-Alex, MP Correia, P Galvin-Parton, PA Gaskill, S Gaskin, KJ Garcia-Minaur, S Gereige, R Hayward, R Homfray, T McKeown, C Murday, V Plauchu, H Shannon, N Spitz, L Lindsay, S
Citation: Dm. Hagan et al., Mutation analysis and embryonic expression of the HLXB9 Currarino syndromegene, AM J HU GEN, 66(5), 2000, pp. 1504-1515
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
Authors: Sakuntabhai, A Ruiz-Perez, V Carter, S Jacobsen, N Burge, S Monk, S Smith, M Munro, CS O'Donovan, M Craddock, N Kucherlapati, R Rees, JL Owen, M Lathrop, GM Monaco, AP Strachan, T Hovnanian, A
Citation: A. Sakuntabhai et al., Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease, NAT GENET, 21(3), 1999, pp. 271-277
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class
Authors: Ruiz-Perez, VL Carter, SA Healy, E Todd, C Rees, JL Steijlen, PM Carmichael, AJ Lewis, HM Hohl, D Itin, P Vahlquist, A Gobello, T Mazzanti, C Reggazini, R Nagy, G Munro, CS Strachan, T
Citation: Vl. Ruiz-perez et al., ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class, HUM MOL GEN, 8(9), 1999, pp. 1621-1630
Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination
Authors: Hanley, NA Ball, SG Clement-Jones, M Hagan, DM Strachan, T Lindsay, S Robson, S Ostrer, H Parker, KL Wilson, DI
Citation: Na. Hanley et al., Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination, MECH DEVEL, 87(1-2), 1999, pp. 175-180
Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes
Authors: Smith, M Herrell, S Lusher, M Lako, L Simpson, C Wiestner, A Skoda, R Ireland, M Strachan, T
Citation: M. Smith et al., Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes, HUM GENET, 105(1-2), 1999, pp. 104-111
Partial cloning and assignment of WNT6 to human chromosome band 2q35 by insitu hybridization
Authors: Rankin, J Strachan, T Lako, M Lindsay, S
Citation: J. Rankin et al., Partial cloning and assignment of WNT6 to human chromosome band 2q35 by insitu hybridization, CYTOG C GEN, 84(1-2), 1999, pp. 50-52
Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma
Authors: Evans, DGR Lye, R Neary, W Black, G Strachan, T Wallace, A Ramsden, RT
Citation: Dgr. Evans et al., Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma, J NE NE PSY, 66(6), 1999, pp. 764-767
Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis
Authors: Lako, M Ramsden, S Campbell, RD Strachan, T
Citation: M. Lako et al., Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis, J MED GENET, 36(2), 1999, pp. 119-124
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): Evidence for more severe disease associated with truncating mutations (vol 35, 450, 1998)
Authors: Evans, DGR Trueman, L Wallace, A Collins, S Strachan, T
Citation: Dgr. Evans et al., Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): Evidence for more severe disease associated with truncating mutations (vol 35, 450, 1998), J MED GENET, 36(1), 1999, pp. 87-87
Risultati: 1-18 |