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Results: 1-25 |
Results: 25
Universal newborn screening for Hb H disease in California
Authors: Lorey, F Cunningham, G Vichinsky, EP Lubin, BH Witkowska, HE Matsunaga, A Azimi, M Sherwin, J Eastman, J Farina, F Waye, JS Chui, DHK
Citation: F. Lorey et al., Universal newborn screening for Hb H disease in California, GENET TEST, 5(2), 2001, pp. 93-100
Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects
Authors: Horsley, SW Daniels, RJ Anguita, E Raynham, HA Peden, JF Villegas, A Vickers, MA Green, S Waye, JS Chui, DHK Ayyub, H MacCarthy, AB Buckle, VJ Gibbons, RJ Kearney, L Higgs, DR
Citation: Sw. Horsley et al., Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects, EUR J HUM G, 9(3), 2001, pp. 217-225
Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G -> A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family
Authors: Comabella, M Waye, JS Raguer, N Eng, B Dominguez, C Navarro, C Borras, C Krivit, W Montalban, X
Citation: M. Comabella et al., Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G -> A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family, ANN NEUROL, 50(1), 2001, pp. 108-112
Novel beta-thalassemia mutation in a beta-thalassemia intermedia patient [poly A (AATAAA -> GATAAA)]
Authors: Waye, JS Eng, B Patterson, M Reis, MD Macdonald, D Chui, DHK
Citation: Js. Waye et al., Novel beta-thalassemia mutation in a beta-thalassemia intermedia patient [poly A (AATAAA -> GATAAA)], HEMOGLOBIN, 25(1), 2001, pp. 103-105
Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases
Authors: Waye, JS Eng, B Patterson, M Walker, L Carcao, MD Olivieri, NF Chui, DHK
Citation: Js. Waye et al., Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases, AM J HEMAT, 68(1), 2001, pp. 11-15
Smith-Lemli-Opitz (RHS) syndrome: Holoprosencephaly and homozygous IVS8-1G-> C genotype
Authors: Nowaczyk, MJM Farrell, SA Sirkin, WL Velsher, L Krakowiak, PA Waye, JS Porter, FD
Citation: Mjm. Nowaczyk et al., Smith-Lemli-Opitz (RHS) syndrome: Holoprosencephaly and homozygous IVS8-1G-> C genotype, AM J MED G, 103(1), 2001, pp. 75-80
Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome
Authors: Nowaczyk, MJM Nakamura, LM Eng, B Porter, FD Waye, JS
Citation: Mjm. Nowaczyk et al., Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome, AM J MED G, 102(4), 2001, pp. 383-386
Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome
Authors: Nowaczyk, MJM Garcia, DM Eng, B Waye, JS
Citation: Mjm. Nowaczyk et al., Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome, AM J MED G, 102(4), 2001, pp. 387-388
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome
Authors: Nowaczyk, MJM Heshka, T Eng, B Feigenbaum, AJ Waye, JS
Citation: Mjm. Nowaczyk et al., DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome, AM J MED G, 100(2), 2001, pp. 162-163
DHCR7 and Smith-Lemli-Opitz syndrome
Authors: Nowaczyk, MJM Nakamura, LM Waye, JS
Citation: Mjm. Nowaczyk et al., DHCR7 and Smith-Lemli-Opitz syndrome, CLIN INV M, 24(6), 2001, pp. 311-317
The alpha-globin gene cluster: genetics and disorders
Authors: Waye, JS Chui, DHK
Citation: Js. Waye et Dhk. Chui, The alpha-globin gene cluster: genetics and disorders, CLIN INV M, 24(2), 2001, pp. 103-109
Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese family
Authors: Leung, KFS Au, WY Chan, AYY Chan, LC Waye, JS Chui, DHK Ma, SK
Citation: Kfs. Leung et al., Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese family, CLIN LAB H, 23(1), 2001, pp. 53-55
Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?
Authors: Chan, LC Ma, SK Chan, AYY Ha, SY Waye, JS Lau, YL Chui, DHK
Citation: Lc. Chan et al., Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?, J CLIN PATH, 54(4), 2001, pp. 317-320
The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology
Authors: Nowaczyk, MJM Waye, JS
Citation: Mjm. Nowaczyk et Js. Waye, The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology, CLIN GENET, 59(6), 2001, pp. 375-386
Hb H hydrops foetalis syndrome: a case report and review of literature
Authors: Lorey, F Charoenkwan, P Witkowska, HE Lafferty, J Patterson, M Eng, B Waye, JS Finklestein, JZ Chui, DHK
Citation: F. Lorey et al., Hb H hydrops foetalis syndrome: a case report and review of literature, BR J HAEM, 115(1), 2001, pp. 72-78
A reliable screening test to identify adult carriers of the (--(SEA)) alpha(0)-thalassemia deletion - Detection of embryonic zeta-globin chains by enzyme-linked immunosorbent assay
Authors: Lafferty, JD Crowther, MA Waye, JS Chui, DHK
Citation: Jd. Lafferty et al., A reliable screening test to identify adult carriers of the (--(SEA)) alpha(0)-thalassemia deletion - Detection of embryonic zeta-globin chains by enzyme-linked immunosorbent assay, AM J CLIN P, 114(6), 2000, pp. 927-931
Homozygous Hb Sallanches [alpha 104(G11)Cys -> Tyr] in a Pakistani child with Hb H disease
Authors: Waye, JS Walker, L Chui, DHK Lafferty, J Kirby, M
Citation: Js. Waye et al., Homozygous Hb Sallanches [alpha 104(G11)Cys -> Tyr] in a Pakistani child with Hb H disease, HEMOGLOBIN, 24(4), 2000, pp. 355-357
Second report of Hb Toulon [alpha 77(EF6)Pro -> His] in a Canadian family of Italian descent
Authors: Waye, JS Eng, B Chui, DHK Powers, PJ Lafferty, JD
Citation: Js. Waye et al., Second report of Hb Toulon [alpha 77(EF6)Pro -> His] in a Canadian family of Italian descent, HEMOGLOBIN, 24(4), 2000, pp. 359-360
beta-thalassemia intermedia caused by compound heterozygosity for Hb Malay(beta codon 19 AAC -> AGC; Asn -> Ser) and codons 41/42 (-CTTT) beta(0)-thalassemia mutation
Authors: Ma, SK Chow, EYD Chan, AYY Kung, NNS Waye, JS Chan, LC Chui, DHK
Citation: Sk. Ma et al., beta-thalassemia intermedia caused by compound heterozygosity for Hb Malay(beta codon 19 AAC -> AGC; Asn -> Ser) and codons 41/42 (-CTTT) beta(0)-thalassemia mutation, AM J HEMAT, 64(3), 2000, pp. 206-209
PCR-based diagnosis of the Filipino (__(FIL)) and Thai (__(THAI)) alpha-thalassemia-1 deletions
Authors: Eng, B Patterson, M Borys, S Chui, DHK Waye, JS
Citation: B. Eng et al., PCR-based diagnosis of the Filipino (__(FIL)) and Thai (__(THAI)) alpha-thalassemia-1 deletions, AM J HEMAT, 63(1), 2000, pp. 54-56
Compound heterozygosity for triplicated alpha-globin gene and (- -(SEA)) alpha-globin gene deletion: Implication for thalassaemia screening
Authors: Ma, SK Chan, AYY Chan, LC Chui, DHK Waye, JS
Citation: Sk. Ma et al., Compound heterozygosity for triplicated alpha-globin gene and (- -(SEA)) alpha-globin gene deletion: Implication for thalassaemia screening, BR J HAEM, 110(2), 2000, pp. 498-499
Compound heterozygosity for Hb S and Hb G-Copenhagen
Authors: Carcao, MD Chang, L Poon, A Olivieri, NF Waye, JS Eng, B Patterson, M Chui, DHK
Citation: Md. Carcao et al., Compound heterozygosity for Hb S and Hb G-Copenhagen, HEMOGLOBIN, 23(4), 1999, pp. 379-381
Spectrum of beta-thalassemia mutations in Egypt
Authors: Waye, JS Borys, S Eng, B Patterson, M Chui, DHK El-Din, OMKB Aref, MK Afify, Z
Citation: Js. Waye et al., Spectrum of beta-thalassemia mutations in Egypt, HEMOGLOBIN, 23(3), 1999, pp. 255-261
A novel and de novo spontaneous point mutation (Glu271STOP) of the antithrombin gene results in a type I deficiency and thrombophilia
Authors: Tarantino, MD Curtis, SM Johnson, GS Waye, JS Blajchman, MA
Citation: Md. Tarantino et al., A novel and de novo spontaneous point mutation (Glu271STOP) of the antithrombin gene results in a type I deficiency and thrombophilia, AM J HEMAT, 60(2), 1999, pp. 126-129
Parentage testing implications of male fertility after allogeneic bone marrow transplantation
Authors: Lipton, JH Marshall, WH Waye, JS
Citation: Jh. Lipton et al., Parentage testing implications of male fertility after allogeneic bone marrow transplantation, BONE MAR TR, 23(2), 1999, pp. 187-189
Risultati: 1-25 |