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Results: 1-14 |
Results: 14
Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: Phenotypic presentation and implications for mutation detectionassays
Authors: Mao, R O'Brien, JF Rao, S Schmitt, E Roa, B Feldman, GL Spence, WC Snow, K
Citation: R. Mao et al., Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: Phenotypic presentation and implications for mutation detectionassays, MOL GEN MET, 72(3), 2001, pp. 248-253
Deletion of 2q37 and duplication of 10q24: Two cases in the same family and review of the literature
Authors: Wiktor, A Feldman, GL Bawle, EV Czarnecki, P Conard, JV Van Dyke, DL
Citation: A. Wiktor et al., Deletion of 2q37 and duplication of 10q24: Two cases in the same family and review of the literature, ANN GENET, 44(3), 2001, pp. 129-134
Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: Results from a collaborative study
Authors: Monaghan, KG Feldman, GL Barbarotto, GM Manji, S Desai, TK Snow, K
Citation: Kg. Monaghan et al., Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: Results from a collaborative study, AM J MED G, 95(4), 2000, pp. 361-365
Mutation analysis of the cystic fibrosis and cationic trypsinogen genes inpatients with alcohol-related pancreatitis
Authors: Monaghan, KG Jackson, CE KuKuruga, DL Feldman, GL
Citation: Kg. Monaghan et al., Mutation analysis of the cystic fibrosis and cationic trypsinogen genes inpatients with alcohol-related pancreatitis, AM J MED G, 94(2), 2000, pp. 120-124
Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG -> ATG) mutation
Authors: Feldman, GL Edmonds, MW Ainsworth, PJ Schuffenecker, I Lenoir, GM Saxe, AW Talpos, GB Roberson, J Petrucelli, N Jackson, CE
Citation: Gl. Feldman et al., Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG -> ATG) mutation, SURGERY, 128(1), 2000, pp. 93-98
Survey of the fragile X syndrome CGG repeat and the short-tendem-repeat and single-nucleotide-polymorphism haplotypes in an African American population
Authors: Crawford, DC Schwartz, CE Meadows, KL Newman, JL Taft, LF Gunter, C Brown, WT Carpenter, NJ Howard-Peebles, PN Monaghan, KG Nolin, SL Reiss, AL Feldman, GL Rohlfs, EM Warren, ST Sherman, SL
Citation: Dc. Crawford et al., Survey of the fragile X syndrome CGG repeat and the short-tendem-repeat and single-nucleotide-polymorphism haplotypes in an African American population, AM J HU GEN, 66(2), 2000, pp. 480-493
The risk of cystic fibrosis with prenatally detected echogenic rowel in anethnically and racially diverse North American population
Authors: Monaghan, KG Feldman, GL
Citation: Kg. Monaghan et Gl. Feldman, The risk of cystic fibrosis with prenatally detected echogenic rowel in anethnically and racially diverse North American population, PRENAT DIAG, 19(7), 1999, pp. 604-609
Satellited chromosome 10 detected prenatally in a fetus and confirmed as mosaic in a parent
Authors: Storto, PD Diehn, TN O'Malley, DP Bullard, BA Netzloff, ML VanDyke, DL Feldman, GL Precht, KS Ledbetter, DH Lese, CM
Citation: Pd. Storto et al., Satellited chromosome 10 detected prenatally in a fetus and confirmed as mosaic in a parent, PRENAT DIAG, 19(11), 1999, pp. 1088-1089
Reply to the letter to the editor by Zackai - "Deletion 4q34.2"
Authors: Tsai, CH Van Dyke, DL Feldman, GL
Citation: Ch. Tsai et al., Reply to the letter to the editor by Zackai - "Deletion 4q34.2", AM J MED G, 86(2), 1999, pp. 198-198
X-linked mental retardation with variable stature, head circumference, andtesticular volume linked to Xq12-q21
Authors: Abidi, F Hall, BD Cadle, RG Feldman, GL Lubs, HA Ouzts, LV Arena, JF Stevenson, RE Schwartz, CE
Citation: F. Abidi et al., X-linked mental retardation with variable stature, head circumference, andtesticular volume linked to Xq12-q21, AM J MED G, 85(3), 1999, pp. 223-229
Prenatal diagnosis of 46,XY/46,XX mosaicism: A case report
Authors: Yaron, Y Feldman, B Kramer, RL Kasperski, SB Vo, T Feldman, GL Johnson, MP Evans, MI Ebrahim, SAD
Citation: Y. Yaron et al., Prenatal diagnosis of 46,XY/46,XX mosaicism: A case report, AM J MED G, 84(1), 1999, pp. 12-14
Child with velocardiofacial syndrome and del (4)(q34.2): Another critical region associated with a velocardiofacial syndrome-like phenotype
Authors: Tsai, CH Van Dyke, DL Feldman, GL
Citation: Ch. Tsai et al., Child with velocardiofacial syndrome and del (4)(q34.2): Another critical region associated with a velocardiofacial syndrome-like phenotype, AM J MED G, 82(4), 1999, pp. 336-339
Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy
Authors: Berend, SA Feldman, GL McCaskill, C Czarnecki, P Van Dyke, DL Shaffer, LG
Citation: Sa. Berend et al., Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy, AM J MED G, 82(3), 1999, pp. 275-281
Fragile X syndrome: A review of the molecular and clinical features
Authors: Feldman, GL Monaghan, KG
Citation: Gl. Feldman et Kg. Monaghan, Fragile X syndrome: A review of the molecular and clinical features, J CLIN LIG, 21(4), 1998, pp. 424-431
Risultati: 1-14 |