Detalhe da pesquisa
1.
Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/ß0-Thalassemia.
Hemoglobin
; 48(2): 116-117, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38360540
2.
Newborn Screening for ß-Thalassemia Identifies a Complex Genotype Involving a Novel ß-Globin Gene Mutation (HBB:c.336dup).
Hemoglobin
; 48(2): 113-115, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38565194
3.
ß0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].
Hemoglobin
; 48(1): 69-70, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38425097
4.
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Hum Mutat
; 43(8): 1089-1096, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34510646
5.
Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [ß85(F1)PheâLeu (TTT>TTG); HBB: c.258T>G].
Hemoglobin
; 44(1): 10-12, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-32151172
6.
Hepatoblastoma in a Child With Early-onset Cirrhosis.
J Pediatr Hematol Oncol
; 41(1): e30-e33, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29420370
7.
A Novel Human ß-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 ß-Thalassemia Trait.
Hemoglobin
; 43(2): 129-131, 2019 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-31246535
8.
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Genet Med
; 20(3): 294-302, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28726806
9.
Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.
Eur J Haematol
; 98(3): 228-234, 2017 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-27753142
10.
Characterization of Two Novel Deletions Involving the 5' Region of the ß-Globin Gene.
Hemoglobin
; 41(4-6): 239-242, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29182041
11.
α0-Thalassemia Due to a 90.7 kb Deletion (- -NFLD).
Hemoglobin
; 41(3): 218-219, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-28838269
12.
Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A).
Hemoglobin
; 40(5): 369-370, 2016 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-27821014
13.
Microcytosis in patients with haemoglobin C trait: is α-thalassaemia trait to blame?
Br J Haematol
; 191(5): e129-e131, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32945526
14.
α(+)-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup].
Hemoglobin
; 39(3): 209-10, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25897479
15.
Sudanese (뫧)0-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion.
Hemoglobin
; 39(5): 368-70, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26154945
16.
Non-thalassemic phenotype associated with the -83 (G > A) mutation of the ß-globin gene promoter (HBB: c.-133G > A).
Hemoglobin
; 38(6): 447-8, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25405919
17.
Mild ß(+)-thalassemia associated with two linked sequence variants: IVS-II-839 (T>C) and IVS-II-844 (C>A).
Hemoglobin
; 37(4): 378-86, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23651435
18.
Normal Hb A2 ß-thalassemia trait: frameshift mutation (HBB: c.187_251dup) in cis with the Hb A2' δ-globin gene missense mutation (HBD: c.49G>C).
Hemoglobin
; 37(2): 201-4, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23398055
19.
Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene.
Blood
; 115(6): 1264-6, 2010 Feb 11.
Artigo
Inglês
| MEDLINE | ID: mdl-20007542
20.
α(+)-Thalassemia trait caused by a frameshift mutation in exon 2 of the α2-globin gene [HBA2 c.244delT].
Hemoglobin
; 36(2): 205-7, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22375514