Search Results - "Eng, Barry"

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).

Authors: Waye, John S. Eng, Barry Hellens, Laurie et al.

Source: Hemoglobin. Apr2013, Vol. 37 Issue 2, p201-204. 4p.

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

Authors: Waye, John S. Eng, Barry Dutly, Fabrizio et al.

Source: Hemoglobin. Nov2009, Vol. 33 Issue 6, p519-522. 4p. 1 Illustration.

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

Authors: Eng, Barry Patterson, Margie Walker, Lynda et al.

Source: Hemoglobin. May2006, Vol. 30 Issue 2, p149-153. 5p.

NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)].

Authors: Waye, John S. Eng, Barry Patterson, Margie et al.

Source: Hemoglobin. Feb2001, Vol. 25 Issue 1, p103-105. 3p.

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

Authors: Waye, John S. Eng, Barry Got, Tiffany et al.

Source: Hemoglobin. Oct2015, Vol. 39 Issue 5, p368-370. 3p.

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

Authors: Eng, Barry Walker, Lynda Nakamura, Lisa M. et al.

Source: Hemoglobin. May2007, Vol. 31 Issue 2, p129-134. 6p.

IDENTIFICATION OF TWO NEW α-THALASSEMIA MUTATIONS IN EXON 2 OF THE α1-GLOBIN GENE.

Authors: Waye, John S. Eng, Barry Patterson, Margaret et al.

Source: Hemoglobin. Nov2001, Vol. 25 Issue 4, p391-396. 6p. 1 Chart.

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

Authors: Eng, Barry Walker, Lynda Waye, John S.

Source: Hemoglobin. Feb2009, Vol. 33 Issue 1, p72-74. 3p. 1 Graph.

Characterization of a Rare Single α-Globin Gene Deletion in a Chinese Woman with Hb H Disease.

Authors: Eng, Barry Walsh, Robert Walker, Lynda et al.

Source: Hemoglobin. Nov2005, Vol. 29 Issue 4, p297-299. 3p. 1 Diagram.

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

Authors: Waye, John S. Eng, Barry Hanna, Meredith et al.

Source: Hemoglobin. May2017, Vol. 41 Issue 3, p218-219. 2p.

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

Authors: Walker, Lynda Eng, Barry McFarlane, Andrew et al.

Source: Hemoglobin. Feb2007, Vol. 31 Issue 1, p101-103. 3p.

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

Authors: Waye, John S. Eng, Barry Hellens, Laurie et al.

Source: Hemoglobin. Aug2013, Vol. 37 Issue 4, p378-386. 9p.

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

Authors: Waye, John S. Hanna, Meredith Hohenadel, Betty-Ann et al.

Source: Hemoglobin. Mar2024, Vol. 48 Issue 2, p113-115. 3p.

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

Authors: Voruganti, Indu Eng, Barry Waye, John S.

Source: Hemoglobin. Nov2009, Vol. 33 Issue 6, p422-427. 6p. 1 Diagram, 2 Charts.

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

Authors: Waye, John S. Eng, Barry Hanna, Meredith et al.

Source: Hemoglobin. Jun2015, Vol. 39 Issue 3, p209-210. 2p.

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

Authors: Waye, John S. Eng, Barry Hanna, Meredith et al.

Source: Hemoglobin. Sep2016, Vol. 40 Issue 5, p369-370. 2p.

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

Authors: Waye, John S. Hanna, Meredith Nakamura, Lisa et al.

Source: Hemoglobin. Mar2024, Vol. 48 Issue 2, p116-117. 2p.

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

Authors: Waye, John S. Hanna, Meredith Hohenadel, Betty-Ann et al.

Source: Hemoglobin. Jan2024, Vol. 48 Issue 1, p69-70. 2p.

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

Authors: Eng, Barry Waye, John S.

Source: Hemoglobin. Aug2008, Vol. 32 Issue 3, p315-317. 3p. 1 Graph.

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

Authors: Waye, John S. Walker, Lynda Eng, Barry

Source: Hemoglobin. Apr2012, Vol. 36 Issue 2, p205-207. 3p. 1 Graph.