Detalhe da pesquisa
1.
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
Nature
; 612(7940): 495-502, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450981
2.
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.
Am J Hum Genet
; 110(7): 1123-1137, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37327787
3.
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.
Neurobiol Dis
; : 106537, 2024 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772452
4.
Studies of a mosaic patient with DBA and chimeric mice reveal erythroid cell-extrinsic contributions to erythropoiesis.
Blood
; 139(23): 3439-3449, 2022 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35349664
5.
Association of clinical severity with FANCB variant type in Fanconi anemia.
Blood
; 135(18): 1588-1602, 2020 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32106311
6.
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.
Hum Mutat
; 41(1): 122-128, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31513304
7.
iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations.
Proc Natl Acad Sci U S A
; 114(8): 1964-1969, 2017 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28167771
8.
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Hum Mutat
; 39(2): 237-254, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29098742
9.
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
J Med Genet
; 54(6): 417-425, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28280134
10.
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.
Cancer
; 123(20): 3943-3954, 2017 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28678401
11.
Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.
J Clin Immunol
; 37(5): 445-451, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28503715
12.
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.
Hum Mutat
; 37(5): 465-8, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26841305
13.
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
Blood
; 121(22): e138-48, 2013 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-23613520
14.
One in four individuals of African-American ancestry harbors a 5.5kb deletion at chromosome 11q13.1.
Genomics
; 103(4): 276-87, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24412158
15.
Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.
Hum Mutat
; 35(11): 1342-53, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25168418
16.
FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia.
Blood Adv
; 8(4): 899-908, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38191666
17.
Differential Regulation of Retinoic Acid Metabolism in Fanconi Anemia.
bioRxiv
; 2023 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066159
18.
The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.
Mol Genet Genomic Med
; 9(7): e1693, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960719
19.
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.
Cold Spring Harb Mol Case Stud
; 7(4)2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34162668
20.
Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.
Mol Genet Genomic Med
; 6(1): 77-91, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193904