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Results: 1-13 |
Results: 13
Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefevre syndrome patients
Authors: Zhang, Y Lundgren, T Renvert, S Takakis, DN Firatli, E Uygur, C Hart, PS Gorry, MC Marks, JJ Hart, TC
Citation: Y. Zhang et al., Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefevre syndrome patients, J MED GENET, 38(2), 2001, pp. 96-101
Novel COL1A1 mutation (G599C) associated with mild osteogenesis imperfectaand dentinogenesis imperfecta
Authors: Pallos, D Hart, PS Cortelli, JR Vian, S Wright, JT Korkko, J Brunoni, D Hart, TC
Citation: D. Pallos et al., Novel COL1A1 mutation (G599C) associated with mild osteogenesis imperfectaand dentinogenesis imperfecta, ARCH ORAL B, 46(5), 2001, pp. 459-470
An integrated physical and genetic map of the PLS locus interval on Chromosome 11q14
Authors: Hart, TC Walker, SJ Bowden, DW Hart, PS Callison, SA Bobby, PL Firatli, E
Citation: Tc. Hart et al., An integrated physical and genetic map of the PLS locus interval on Chromosome 11q14, MAMM GENOME, 11(3), 2000, pp. 243-246
Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C
Authors: Hart, TC Hart, PS Michalec, MD Zhang, Y Firatli, E Van Dyke, TE Stabholz, A Zlorogorski, A Shapira, L Soskolne, WA
Citation: Tc. Hart et al., Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C, J MED GENET, 37(2), 2000, pp. 88-94
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation
Authors: Hart, TC Hart, PS Michalec, MD Zhang, Y Marazita, ML Cooper, M Yassin, OM Nusier, M Walker, S
Citation: Tc. Hart et al., Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation, J MED GENET, 37(2), 2000, pp. 95-101
Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients
Authors: Hart, PS Zhang, Y Firatli, E Uygur, C Lotfazar, M Michalec, MD Marks, JJ Lu, X Coates, BJ Seow, WK MarshaIl, R Williams, D Reed, JB Wright, JT Hart, TC
Citation: Ps. Hart et al., Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients, J MED GENET, 37(12), 2000, pp. 927-932
Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation
Authors: Ravassipour, DB Hart, PS Hart, TC Ritter, AV Yamauchi, M Gibson, C Wright, JT
Citation: Db. Ravassipour et al., Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation, J DENT RES, 79(7), 2000, pp. 1476-1481
SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis
Authors: Pfutzer, RH Barmada, MM Brunskill, APJ Finch, R Hart, PS Neoptolemos, J Furey, WF Whitcomb, DC
Citation: Rh. Pfutzer et al., SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis, GASTROENTY, 119(3), 2000, pp. 615-623
Prenatal interphase detection by FISH of a sex chromosome mosaicism when cytogenetics reports a pseudomosaicism
Authors: Pettenati, MJ Berry, MN Hart, PS Rao, PN Lantz, P Rosnes, J
Citation: Mj. Pettenati et al., Prenatal interphase detection by FISH of a sex chromosome mosaicism when cytogenetics reports a pseudomosaicism, PRENAT DIAG, 19(1), 1999, pp. 25-28
Misleading leads - Hereditary persistence of alpha-fetoprotein in a child with testicular germ cell tumor
Authors: Cochran, PK Chauvenet, AR Hart, PS de Graaf, SSN Cushing, B Kroovand, L Wofford, MM
Citation: Pk. Cochran et al., Misleading leads - Hereditary persistence of alpha-fetoprotein in a child with testicular germ cell tumor, MED PED ONC, 32(6), 1999, pp. 436-437
Improved method of isolation of DNA from celloidin-embedded tissue
Authors: Hart, PS Vlaservich, AC Ryu, JH Kohut, RI
Citation: Ps. Hart et al., Improved method of isolation of DNA from celloidin-embedded tissue, LARYNGOSCOP, 109(5), 1999, pp. 831-833
Mutations of the cathepsin C gene are responsible for Papillon-Lefevre syndrome
Authors: Hart, TC Hart, PS Bowden, DW Michalec, MD Callison, SA Walker, SJ Zhang, YZ Firatli, E
Citation: Tc. Hart et al., Mutations of the cathepsin C gene are responsible for Papillon-Lefevre syndrome, J MED GENET, 36(12), 1999, pp. 881-887
Turner syndrome and multiple-marker screening
Authors: Ruiz, C Lamm, F Hart, PS
Citation: C. Ruiz et al., Turner syndrome and multiple-marker screening, CLIN CHEM, 45(12), 1999, pp. 2259-2261
Risultati: 1-13 |