Detalhe da pesquisa
1.
Eleven Cases of Hb J-Paris-I [HBA2: c.38C>A (or HBA1)]: A Stable α Chain Variant Elutes in the P3 Window on High-Performance Liquid Chromatography.
Hemoglobin
; 45(5): 322-324, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34784833
2.
Eight Cases of Hb Winnipeg [HBA2: c.226G>T (or HBA1)]: A Detailed Study.
Hemoglobin
; 45(4): 256-258, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34496687
3.
Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a ß-Thalassemia Major Phenotype.
Hemoglobin
; 45(4): 215-219, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34311670
4.
Fifteen Cases of Hb J-Meerut: The Rare Association with Hb E and/or HBA1: c.-24C>G (or HBA2) Variants.
Hemoglobin
; 44(5): 364-367, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32924661
5.
Twelve Cases of Hb Manitoba [α102(G9)SerâArg]: the Fluctuation in the Variant Expression.
Hemoglobin
; 44(6): 442-445, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33249879
6.
A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.
Hemoglobin
; 44(3): 195-200, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32597250
7.
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.
Genet Med
; 20(10): 1196-1205, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388947
8.
Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
PLoS Med
; 14(2): e1002230, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28196074
9.
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
Br J Haematol
; 175(2): 318-330, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27432187
10.
A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders.
Blood
; 134(14): 1190-1193, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31444163
11.
SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.
Blood
; 123(7): 1021-31, 2014 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24335234
12.
Ten Years of Routine α- and ß-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Hemoglobin
; 40(2): 75-84, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26635043
13.
Impact of isolated germline JAK2V617I mutation on human hematopoiesis.
Blood
; 121(20): 4156-65, 2013 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-23535062
14.
Characterization of Hb Lepore variants in the UK population.
Hemoglobin
; 39(1): 58-61, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25490067
15.
Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns.
Blood
; 120(20): 4191-6, 2012 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22915640
16.
A study of δ-globin gene mutations in the UK population: identification of three novel variants and development of a novel DNA test for Hb A'2.
Hemoglobin
; 38(3): 201-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24601842
17.
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.
Nat Med
; 30(1): 279-289, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38200255
18.
Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.
Haematologica
; 97(3): 340-3, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22102705
19.
Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition.
Proc Natl Acad Sci U S A
; 106(51): 21771-6, 2009 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-19959666
20.
Prenatal diagnosis of hemoglobinopathies by pyrosequencing: a more sensitive and rapid approach to fetal genotyping.
Hemoglobin
; 36(2): 144-50, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22239406