Works matching AU Waye, John S.

Results: 79

Novel 27.9 kb α0-thalassemia deletion in a Filipino woman.

Published in:

American Journal of Hematology, 2009, v. 84, n. 3, p. 197, doi. 10.1002/ajh.21349

By:

Waye, John S.;
Greenlay, Benjamin;
Eng, Barry

Publication type:

Article

Multiplex Allele-Specific PCR for Simultaneous Detection of H63D and C282Y HFE Mutations in Hereditary Hemochromatosis.

Published in:

Journal of Applied Laboratory Medicine, 2018, p. 10, doi. 10.1373/jalm.2017.024984

By:

Arts, Heleen H.;
Eng, Barry;
Waye, John S.

Publication type:

Article

Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 217, doi. 10.1038/sj.ejhg.5200610

By:

Horsley, Sharon W;
Daniels, Rachael J;
Anguita, Eduardo;
Raynham, Helen A;
Peden, John F;
Villegas, Ana;
Vickers, Mark A;
Green, Sarah;
Waye, John S;
Chui, David HK;
Ayyub, Helena;
MacCarthy, Angela B;
Buckle, Veronica J;
Gibbons, Richard J;
Kearney, Lyndal;
Higgs, Douglas R

Publication type:

Article

An evaluation of genetic causes and environmental risks for bilateral optic atrophy.

Published in:

PLoS ONE, 2019, v. 14, n. 11, p. 1, doi. 10.1371/journal.pone.0225656

By:

Chen, Andrew T.;
Brady, Lauren;
Bulman, Dennis E.;
Sundaram, Arun N. E.;
Rodriguez, Amadeo R.;
Margolin, Edward;
Waye, John S.;
Tarnopolsky, Mark A.

Publication type:

Article

Pregnancy outcomes in women with elevated levels of fetal hemoglobin.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2012, v. 25, n. 2, p. 125, doi. 10.3109/14767058.2011.564241

By:

Murji, Ally;
Sobel, Mara L.;
Hasan, Lara;
Mcleod, Anne;
Waye, John S.;
Sermer, Mathew;
Berger, Howard

Publication type:

Article

Allelic Stability of VNTR Locus 3'αHVR: Linkage Disequilibrium with the Common α-Thalassaemia-1 Deletion of South-East Asia (--SEA/).

Published in:

Human Heredity, 1994, v. 44, n. 2, p. 61, doi. 10.1159/000154192

By:

Waye, John S.;
Eng, Barry

Publication type:

Article

P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL.

Published in:

HemaSphere, 2022, v. 6, p. 34, doi. 10.1097/01.HS9.0000821632.18626.46

By:

Coralea Stephanou, C;
Petros Kountouris, P;
Carsten W Lederer, C;
Celeste Bento, C;
Cornelis L Hartveld, C;
Jan Traeger‐Synodinos, J;
John S Waye, J;
Zhiyu Peng, Z;
Irene Fylaktou, I;
Hashim Halim‐Fikri, H;
Tamara T. Koopmann, T;
Landry Nfonsam, L;
Jun Sun, J;
Franck Nzengu‐Lukusa, F;
Michael Angastiniotis, M;
Catherine Badens, C;
Bertha Ibarra Cortes, B;
Johan T. den Dunnen, J;
Jacques Elion, J;
Suthat Fucharoen, S

Publication type:

Article

The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes.

Published in:

PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173991

By:

Hayward, Catherine P. M.;
Liang, Minggao;
Tasneem, Subia;
Soomro, Asim;
Waye, John S.;
Paterson, Andrew D.;
Rivard, Georges E.;
Wilson, Michael D.

Publication type:

Article

Characterisation of the British α0-thalassaemia deletion: evidence of a founder effect in Newfoundland, Canada.

Published in:

2009

By:

Eng, Barry;
Greenlay, Benjamin;
Waye, John S.

Publication type:

Letter

Characterisation of a novel 49·3 kb G γ(A γ δ β)0-thalassaemia deletion in seven families of Asian descent.

Published in:

2007

By:

Waye, John S.;
Walker, Lynda;
Kyriakopoulou, Lianna G.;
Potter, Murray A.;
Eng, Barry

Publication type:

Letter

Examining the clinical use of hemochromatosis genetic testing.

Published in:

Canadian Journal of Gastroenterology & Hepatology, 2015, v. 29, n. 1, p. 41, doi. 10.1155/2015/941406

By:

Lanktree, Matthew B.;
Lanktree, Bruce B.;
Paré, Guillaume;
Waye, John S.;
Sadikovic, Bekim;
Crowther, Mark A.

Publication type:

Article

Hb H hydrops foetalis syndrome: a case report and review of literature.

Published in:

British Journal of Haematology, 2001, v. 115, n. 1, p. 72, doi. 10.1046/j.1365-2141.2001.03080.x

By:

Lorey, Fred;
Charoenkwan, Pimlak;
Witkowska, H. Ewa;
Lafferty, John;
Patterson, Margaret;
Eng, Barry;
Waye, John S.;
Finklestein, Jerry Z.;
Chui, David H. K.

Publication type:

Article

The prenatal identification of fetal compatibility in neonatal alloimmune thrombocytopenia using amniotic fluid and variable number of tandem repeat (VNTR) analysis.

Published in:

British Journal of Haematology, 1995, v. 91, n. 3, p. 742, doi. 10.1111/j.1365-2141.1995.tb05379.x

By:

Denomme, Gregory A.;
Waye, John S.;
Borrows, Robert F.;
Hayward, Catherine P. M.;
Warkentin, Theodore E.;
Horsewood, Peter;
Smith, James W.;
Jelsema, Russel D.;
Zuidema, Laura J.;
Kelton, John G.

Publication type:

Article

B-cell lymphoma of recipient origin 9 years after allogeneic bone marrow transplantation for T-cell acute lymphoblastic leukaemia.

Published in:

British Journal of Haematology, 1993, v. 85, n. 1, p. 99, doi. 10.1111/j.1365-2141.1993.tb08651.x

By:

Trimble, Malcolm S.;
Waye, John S.;
Walker, Irwin R.;
Brain, Michael C.;
Leber, Brian F.

Publication type:

Article

Identification of an extensive ζ-α globin gene deletion in a Chinese individual.

Published in:

British Journal of Haematology, 1992, v. 80, n. 3, p. 378, doi. 10.1111/j.1365-2141.1992.tb08148.x

By:

Waye, John S.;
Eng, Barry;
Chui, David H. K.

Publication type:

Article

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.

Published in:

Annals of Neurology, 2001, v. 50, n. 1, p. 108, doi. 10.1002/ana.1076

By:

Comabella, Manuel;
Waye, John S.;
Raguer, Nuria;
Eng, Barry;
Domínguez, Carmen;
Navarro, Carmen;
Borrás, Cecilia;
Krivit, William;
Montalbán, Xavier

Publication type:

Article

Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.

Published in:

Prenatal Diagnosis, 2007, v. 27, n. 7, p. 638, doi. 10.1002/pd.1735

By:

Waye, John S.;
Eng, Barry;
Nowaczyk, Małgorzata J. M.

Publication type:

Article

Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).

Published in:

Human Mutation, 2005, v. 26, n. 1, p. 59, doi. 10.1002/humu.9346

By:

Waye, John S.;
Krakowiak, Patrycja A.;
Wassif, Christopher A.;
Sterner, Allison L.;
Eng, Barry;
Nakamura, Lisa M.;
Nowaczyk, Małgorzata J.M.;
Porter, Forbes D.

Publication type:

Article

Novel seventeen basepair deletion in exon 3 of the β-globin gene.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 252, doi. 10.1002/humu.1380060310

By:

Waye, John S.;
Eng, Barry;
Francombe, William H.;
Chui, David H. K.

Publication type:

Article

Allele frequency data for VNTR locus D17S79: Identification of an internal HaeIII polymorphism in the black population.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 248, doi. 10.1002/humu.1380030312

By:

Waye, John S.;
Richard, Melanie;
Carmody, George;
Newall, Pamela J.

Publication type:

Article

Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 239, doi. 10.1002/humu.1380030310

By:

Hain, Richard D. W.;
Chitayat, David;
Cooper, Robert;
Bandler, Elizabeth;
Eng, Barry;
Chui, David H. K.;
Waye, John S.;
Freedman, Melvin H.

Publication type:

Article

Identification of two novel β°-thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β-globin gene deletion.

Published in:

Human Mutation, 1993, v. 2, n. 5, p. 375, doi. 10.1002/humu.1380020509

By:

Eng, Barry;
Chui, David H. K.;
Saunderson, Janet;
Olivieri, Nancy F.;
Waye, John S.

Publication type:

Article

Prenatal Diagnosis of Hemoglobinopathies in Ontario, Canada.

Published in:

Annals of the New York Academy of Sciences, 2005, v. 1054, n. 1, p. 507, doi. 10.1196/annals.1345.052

By:

BASRAN, RAVEEN K.;
PATTERSON, MARGIE;
WALKER, LYNDA;
NAKAMURA, LISA M.;
ENG, BARRY;
CHUI, DAVID H.K.;
WAYE, JOHN S.

Publication type:

Article

Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation (HBB:c.336dup).

Published in:

Hemoglobin, 2024, v. 48, n. 2, p. 113, doi. 10.1080/03630269.2024.2328220

By:

Waye, John S.;
Hanna, Meredith;
Hohenadel, Betty-Ann;
Nakamura, Lisa;
Walker, Lynda;
Eng, Barry;
Nfonsam, Landry E.

Publication type:

Article

Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia.

Published in:

Hemoglobin, 2024, v. 48, n. 2, p. 116, doi. 10.1080/03630269.2024.2314075

By:

Waye, John S.;
Hanna, Meredith;
Nakamura, Lisa;
Walker, Lynda;
Eng, Barry;
Nfonsam, Landry E.

Publication type:

Article

β0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].

Published in:

Hemoglobin, 2024, v. 48, n. 1, p. 69, doi. 10.1080/03630269.2024.2322518

By:

Waye, John S.;
Hanna, Meredith;
Hohenadel, Betty-Ann;
Nakamura, Lisa;
Walker, Lynda;
Eng, Barry;
Nfonsam, Landry E.

Publication type:

Article

Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G].

Published in:

Hemoglobin, 2020, v. 44, n. 1, p. 10, doi. 10.1080/03630269.2020.1720711

By:

Nabhani, Ibrahim Al;
Aneke, John C.;
Verhovsek, Madeleine;
Eng, Barry;
Kuo, Kevin H.M.;
Rudinskas, Leona C.;
Waye, John S.

Publication type:

Article

A Novel Human β-Globin Gene Variant [Hb London-Ontario, HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait.

Published in:

Hemoglobin, 2019, v. 43, n. 2, p. 129, doi. 10.1080/03630269.2019.1619575

By:

Bienz, Marc N.;
Hsia, Cyrus;
Waye, John S.;
Bode, Margo;
Solh, Ziad

Publication type:

Article

Characterization of Two Novel Deletions Involving the 5′ Region of the β-Globin Gene.

Published in:

Hemoglobin, 2017, v. 41, n. 4-6, p. 239, doi. 10.1080/03630269.2017.1397015

By:

Waye, John S.;
Hanna, Meredith;
Hohenadel, Betty-Ann;
Nakamura, Lisa;
Walker, Lynda;
Eng, Barry

Publication type:

Article

α -Thalassemia Due to a 90.7 kb Deletion (– – ).

Published in:

Hemoglobin, 2017, v. 41, n. 3, p. 218, doi. 10.1080/03630269.2017.1369987

By:

Waye, John S.;
Eng, Barry;
Hanna, Meredith;
Hohenadel, Betty-Ann;
Nakamura, Lisa;
Walker, Lynda

Publication type:

Article

Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (A T G>A A G or HBA1 :c.2T>A).

Published in:

Hemoglobin, 2016, v. 40, n. 5, p. 369, doi. 10.1080/03630269.2016.1236028

By:

Waye, John S.;
Eng, Barry;
Hanna, Meredith;
Hohenadel, Betty-Ann;
Nakamura, Lisa;
Walker, Lynda

Publication type:

Article

Sudanese ( δ β ) -Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion.

Published in:

2015

By:

Waye, John S.;
Eng, Barry;
Got, Tiffany;
Hanna, Meredith;
Hohenadel, Betty-Ann;
Nakamura, Lisa M.;
Walker, Lynda

Publication type:

Case Study

α+-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup].

Published in:

Hemoglobin, 2015, v. 39, n. 3, p. 209, doi. 10.3109/03630269.2015.1030410

By:

Waye, John S.;
Eng, Barry;
Hanna, Meredith;
Hohenadel, Betty-Ann;
Nakamura, Lisa M.;
Walker, Lynda

Publication type:

Article

Non-Thalassemic Phenotype Associated With the -83 (G > A) Mutation of the β-Globin Gene Promoter ( HBB: c.-133G > A).

Published in:

Hemoglobin, 2014, v. 38, n. 6, p. 447, doi. 10.3109/03630269.2014.976417

By:

Waye, John S.;
Eng, Barry;
Hanna, Meredith;
Hohenadel, Betty-Ann;
Nakamura, Lisa N.;
Walker, Lynda

Publication type:

Article

Mild β+-Thalassemia Associated With Two Linked Sequence Variants: IVS-II-839 (T>C) and IVS-II-844 (C>A).

Published in:

Hemoglobin, 2013, v. 37, n. 4, p. 378, doi. 10.3109/03630269.2013.788511

By:

Waye, John S.;
Eng, Barry;
Hellens, Laurie;
Hohenadel, Betty-Ann;
Nakamura, Lisa M.;
Walker, Lynda

Publication type:

Article

Normal Hb A2 β-Thalassemia Trait: Frameshift Mutation ( HBB: c.187_251dup) in Cis with the Hb A2' δ-Globin Gene Missense Mutation ( HBD: c.49G>C).

Published in:

Hemoglobin, 2013, v. 37, n. 2, p. 201, doi. 10.3109/03630269.2012.763171

By:

Waye, John S.;
Eng, Barry;
Hellens, Laurie;
Hohenadel, Betty-Ann;
Nakamura, Lisa M.;
Walker, Lynda

Publication type:

Article

α++-Thalassemia Trait Caused by a Frameshift Mutation in Exon 2 of the α2-Globin Gene [HBA2 c.244delT].

Published in:

Hemoglobin, 2012, v. 36, n. 2, p. 205, doi. 10.3109/03630269.2012.656172

By:

Waye, John S.;
Walker, Lynda;
Eng, Barry

Publication type:

Article

β+-Thalassemia Trait Due to a Novel Mutation in the β-Globin Gene Promoter: −26 (A>C) [HBB c.−76A>C].

Published in:

Hemoglobin, 2011, v. 35, n. 1, p. 84, doi. 10.3109/03630269.2010.529744

By:

Waye, John S.;
Nakamura-Garrett, Lisa M.;
Eng, Barry;
Kanavakis, Emmanuel;
Traeger-Synodinos, Joanne

Publication type:

Article

Codon 24 (TA T>TA G) and Codon 32 (A TG>A GG) (Hb Rotterdam): Two Novel α2 Gene Mutations Associated with Mild α-Thalassemia Found in the Same Family After Newborn Screening.

Published in:

Hemoglobin, 2010, v. 34, n. 4, p. 354, doi. 10.3109/03630269.2010.486341

By:

Giordano, Piero C.;
Cnossen, Marjon H.;
Joosten, Annemarie M.S.;
Jansen, Cees A.M.;
Hakvoort, Tineke E.;
Bakker-Verweij, Margreet;
Arkesteijn, Sandra G.J.;
van Delft, Peter;
Waye, John S.;
Bouva, Marelle J.;
Harteveld, Cornelis L.

Publication type:

Article

Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles.

Published in:

Hemoglobin, 2010, v. 34, n. 4, p. 374, doi. 10.3109/03630269.2010.500966

By:

Frischknecht, Hannes;
Troxler, Heinz;
Dutly, Fabrizio;
Walker, Lynda;
Hohenadel, Betty-Ann;
Eng, Barry;
Waye, John S.

Publication type:

Article

α-Thalassemia Caused by Two Novel Splice Mutations of the α2-Globin Gene: IVS-I-1 (G>A and G>T).

Published in:

Hemoglobin, 2009, v. 33, n. 6, p. 519, doi. 10.3109/03630260903333377

By:

Waye, John S.;
Eng, Barry;
Dutly, Fabrizio;
Frischknecht, Hannes

Publication type:

Article

Molecular Characterization of a Novel 55.1 kb Gγ(Aγδβ)0-thalassemia Deletion in Two Canadian Families.

Published in:

Hemoglobin, 2009, v. 33, n. 6, p. 422, doi. 10.3109/03630260903333088

By:

Voruganti, Indu;
Eng, Barry;
Waye, John S.

Publication type:

Article

Three New β-Thalassemia Mutations with Varying Degrees of Severity.

Published in:

Hemoglobin, 2009, v. 33, n. 3/4, p. 220, doi. 10.1080/03630260903089060

By:

Frischknecht, Hannes;
Dutly, Fabrizio;
Walker, Lynda;
Nakamura-Garrett, Lisa M.;
Eng, Barry;
Waye, John S.

Publication type:

Article

α+-Thalassemia Trait Caused by a Nonsense Mutation in the α2-Globin Gene: Codon 54 (CAG>TAG).

Published in:

Hemoglobin, 2009, v. 33, n. 1, p. 72, doi. 10.1080/03630260802625980

By:

Eng, Barry;
Walker, Lynda;
Waye, John S.

Publication type:

Article

Hb North York [β117(G19)His→Asp]: A New β Chain Hemoglobin Variant.

Published in:

Hemoglobin, 2009, v. 33, n. 1, p. 51, doi. 10.1080/03630260802625659

By:

Waye, John S.;
Walker, Lynda;
Nakamura, Lisa M.;
Eng, Barry;
McFarlane, Andrew

Publication type:

Article

THE Hb S/β+-Thalassemia Phenotype Demonstrates that the IVS-I (-2) (A>C) Mutation is a Mild β-Thalassemia Allele.

Published in:

Hemoglobin, 2008, v. 32, n. 3, p. 303, doi. 10.1080/03630260802004459

By:

Schmugge, Markus;
Waye, John S.;
Basran, Raveen K.;
Zurbriggen, Karin;
Frischknecht, Hannes

Publication type:

Article

Frameshift Mutation in the α2-Globin Gene Causing α+-Thalassemia: Codon 49 (-GC).

Published in:

Hemoglobin, 2008, v. 32, n. 3, p. 315, doi. 10.1080/03630260701798359

By:

Eng, Barry;
Waye, John S.

Publication type:

Article

Three New β-Globin Gene Promoter Mutations Identified Through Newborn Screening.

Published in:

Hemoglobin, 2007, v. 31, n. 2, p. 129, doi. 10.1080/03630260701284624

By:

Eng, Barry;
Walker, Lynda;
Nakamura, Lisa M.;
Hoppe, Carolyn;
Azimi, Mahin;
Lee, Helen;
Waye, John S.

Publication type:

Article

High Oxygen Affinity Hemoglobin Variant in a Canadian Family: Hb Bunbury [β94(FG1)As(p)→Asn, GA(C)→AAC].

Published in:

Hemoglobin, 2007, v. 31, n. 1, p. 101, doi. 10.1080/03630260601059241

By:

Walker, Lynda;
Eng, Barry;
McFarlane, Andrew;
Waye, John S.

Publication type:

Article

THREE NEW α-THALASSEMIA POINT MUTATIONS ASCERTAINED THROUGH NEWBORN SCREENING.

Published in:

Hemoglobin, 2006, v. 30, n. 2, p. 149, doi. 10.1080/03630260600642021

By:

Eng, Barry;
Patterson, Margie;
Walker, Lynda;
Hoppe, Carolyn;
Azimi, Mahin;
Lee, Helen;
Giordano, Piero C.;
Waye, John S.

Publication type:

Article