Detalhe da pesquisa
1.
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Am J Hum Genet
; 109(8): 1472-1483, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35931051
2.
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Blood
; 141(23): 2853-2866, 2023 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952636
3.
Guidelines for the diagnosis and management of adult aplastic anaemia: A British Society for Haematology Guideline.
Br J Haematol
; 204(3): 784-804, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38247114
4.
Inherited bone marrow failure in the pediatric patient.
Blood
; 140(6): 556-570, 2022 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35605178
5.
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure.
Proc Natl Acad Sci U S A
; 117(29): 17151-17155, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32636268
6.
Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
Br J Haematol
; 199(5): 754-764, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36156210
7.
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Hum Genet
; 140(6): 945-955, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33709208
8.
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.
Proc Natl Acad Sci U S A
; 115(30): 7777-7782, 2018 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29987015
9.
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
Am J Hum Genet
; 99(1): 115-24, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27346687
10.
ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
Am J Hum Genet
; 94(2): 246-56, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24507776
11.
Triallelic and epigenetic-like inheritance in human disorders of telomerase.
Blood
; 126(2): 176-84, 2015 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26024875
12.
Disease evolution and outcomes in familial AML with germline CEBPA mutations.
Blood
; 126(10): 1214-23, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26162409
13.
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Am J Hum Genet
; 92(3): 448-53, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23453664
14.
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
Haematologica
; 101(10): 1180-1189, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27612988
15.
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.
Am J Hum Genet
; 90(5): 888-92, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22541560
16.
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.
Am J Hum Genet
; 90(3): 426-33, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22341970
17.
Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.
Blood
; 132(12): 1349-1353, 2018 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30064976
18.
Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.
Blood
; 121(6): 1028-38, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23190533
19.
A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.
Nat Genet
; 37(9): 958-63, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16116422
20.
British Committee for Standards in Haematology guidelines for aplastic anemia: Single centre retrospective review finds no compelling evidence for the recommended higher platelet count threshold of 20 × 109 /L - RESPONSE to Yan et al.
Br J Haematol
; 182(2): 286-287, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28542907