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Results: 1-13 |
Results: 13
Recombination hotspot in NF1 microdeletion patients
Authors: Lopez-Correa, C Dorschner, M Brems, H Lazaro, C Clementi, M Upadhyaya, M Dooijes, D Moog, U Kehrer-Sawatzki, H Rutkowski, JL Fryns, JP Marynen, P Stephens, K Legius, E
Citation: C. Lopez-correa et al., Recombination hotspot in NF1 microdeletion patients, HUM MOL GEN, 10(13), 2001, pp. 1387-1392
Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene
Authors: Han, S Cooper, DN Upadhyaya, M
Citation: S. Han et al., Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene, HUM GENET, 109(5), 2001, pp. 487-497
Chromosome 2 interstitial deletion (del(2) (q14.1q21)) associated with connective tissue laxity and an attention deficit disorder
Authors: Baker, KL Rees, MI Thompson, PW Howell, RT Cole, TR Hughes, HE Upadhyaya, M Ravine, D
Citation: Kl. Baker et al., Chromosome 2 interstitial deletion (del(2) (q14.1q21)) associated with connective tissue laxity and an attention deficit disorder, J MED GENET, 38(7), 2001, pp. 493-496
Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours
Authors: Horan, MP Cooper, DN Upadhyaya, M
Citation: Mp. Horan et al., Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours, HUM GENET, 107(1), 2000, pp. 33-39
Multiple coronary artery aneurysms in a child with neurofibromatosis type 1
Authors: Ruggieri, M D'Arrigo, G Abbate, M Distefano, A Upadhyaya, M
Citation: M. Ruggieri et al., Multiple coronary artery aneurysms in a child with neurofibromatosis type 1, EUR J PED, 159(7), 2000, pp. 477-480
A search for evidence of somatic mutations in the NF1 gene
Authors: John, AM Ruggieri, M Ferner, R Upadhyaya, M
Citation: Am. John et al., A search for evidence of somatic mutations in the NF1 gene, J MED GENET, 37(1), 2000, pp. 44-49
Molecular analysis of the 5 '-flanking region of the neurofibromatosis type 1 (NF1) gene: identification of five sequence variants
Authors: Osborn, M Cooper, DN Upadhyaya, M
Citation: M. Osborn et al., Molecular analysis of the 5 '-flanking region of the neurofibromatosis type 1 (NF1) gene: identification of five sequence variants, CLIN GENET, 57(3), 2000, pp. 221-224
Interactions of 6-aminopurine (adenine) in water and aqueous urea solutions
Authors: Pandey, JD Haroon, S Dubey, KK Upadhyaya, M Dey, R Misra, K
Citation: Jd. Pandey et al., Interactions of 6-aminopurine (adenine) in water and aqueous urea solutions, CAN J CHEM, 78(12), 2000, pp. 1561-1569
A case of Miller-Dieker syndrome in a family with neurofibromatosis type I
Authors: King, A Upadhyaya, M Penney, C Doshi, R
Citation: A. King et al., A case of Miller-Dieker syndrome in a family with neurofibromatosis type I, ACT NEUROP, 99(4), 2000, pp. 425-427
Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations
Authors: Osborn, MJ Upadhyaya, M
Citation: Mj. Osborn et M. Upadhyaya, Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations, HUM GENET, 105(4), 1999, pp. 327-332
Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD)
Authors: Upadhyaya, M MacDonald, M Ravine, D
Citation: M. Upadhyaya et al., Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD), PRENAT DIAG, 19(10), 1999, pp. 959-965
Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features
Authors: Faravelli, F Upadhyaya, M Osborn, M Huson, SM Hayward, R Winter, R
Citation: F. Faravelli et al., Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features, J MED GENET, 36(12), 1999, pp. 893-896
Genetic variation in the 3 ' untranslated region of the neurofibromatosis 1 gene: Application to unequal allelic expression
Authors: Cowley, GS Murthy, AE Parry, DM Schneider, G Korf, B Upadhyaya, M Harper, P MacCollin, M Bernards, A Gusella, JF
Citation: Gs. Cowley et al., Genetic variation in the 3 ' untranslated region of the neurofibromatosis 1 gene: Application to unequal allelic expression, SOM CELL M, 24(2), 1998, pp. 107-119
Risultati: 1-13 |