Detalhe da pesquisa
1.
Differential diagnosis of bone marrow failure syndromes guided by machine learning.
Blood
; 141(17): 2100-2113, 2023 04 27.
Artigo
Inglês
| MEDLINE | ID: mdl-36542832
2.
Re-equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunction.
EMBO J
; 39(21): e103420, 2020 11 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32935380
3.
Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.
Hepatology
; 78(6): 1777-1787, 2023 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37184208
4.
Disease progression and clinical outcomes in telomere biology disorders.
Blood
; 139(12): 1807-1819, 2022 03 24.
Artigo
Inglês
| MEDLINE | ID: mdl-34852175
5.
The distribution and accumulation of the shortest telomeres in telomere biology disorders.
Br J Haematol
; 203(5): 820-828, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37354000
6.
Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.
Haematologica
; 108(1): 69-82, 2023 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35417938
7.
Fanconi anaemia: A syndrome with distinct subgroups.
Br J Haematol
; 197(4): 467-474, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35191533
8.
Risk of cancer in heterozygous relatives of patients with Fanconi anemia.
Genet Med
; 24(1): 245-250, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34906449
9.
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Pediatr Res
; 92(6): 1671-1680, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35322185
10.
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Genes Dev
; 28(19): 2090-102, 2014 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25233904
11.
Gynaecological and reproductive health of women with telomere biology disorders.
Br J Haematol
; 193(6): 1238-1246, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34019708
12.
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
J Pediatr
; 230: 55-61.e4, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32971146
13.
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
Haematologica
; 106(5): 1303-1310, 2021 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32241839
14.
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.
Hum Mutat
; 41(11): 1918-1930, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32790018
15.
Understanding the evolving phenotype of vascular complications in telomere biology disorders.
Angiogenesis
; 22(1): 95-102, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30168024
16.
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.
Genes Dev
; 25(1): 11-6, 2011 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-21205863
17.
Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.
Haematologica
; 103(1): 30-39, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29051281
18.
Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.
Am J Med Genet A
; 176(6): 1432-1437, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29696773
19.
Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.
Pediatr Blood Cancer
; 65(1)2018 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-28801981
20.
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
J Med Genet
; 54(6): 417-425, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28280134