Jose Barbot
Overview
Explore the profile of Jose Barbot including associated specialties, affiliations and a list of published articles.
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34
Citations
237
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Recent Articles
1.
Frattini A, Micheloni G, Musio A, Antunes M, Barbot J, Costa E, et al.
Am J Med Genet A
. 2024 Oct;
197(2):e63901.
PMID: 39392177
Mosaic variegated aneuploidy (MVA) is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies, and most patients...
2.
Morimoto M, Nicoli E, Kuptanon C, Roney J, Serra-Vinardell J, Sharma P, et al.
J Med Genet
. 2023 Oct;
61(3):212-223.
PMID: 37788905
Introduction: Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterised by partial oculocutaneous albinism, a bleeding diathesis, immunological dysfunction and neurological impairment. Bi-allelic loss-of-function variants in cause CHS. encodes...
3.
Cruz H, Ferreira A, Costa E, Barbot J, Freitas M
Int J Lab Hematol
. 2018 Aug;
41(1):e10-e12.
PMID: 30113765
No abstract available.
4.
Sousa R, Goncalves C, Guerra I, Costa E, Fernandes A, Sucesso M, et al.
Orphanet J Rare Dis
. 2016 Jul;
11(1):102.
PMID: 27456001
Background: Red cell distribution width (RDW), a classical parameter used in the differential diagnosis of anemia, has recently been recognized as a marker of chronic inflammation and high levels of...
5.
Belo H, Silva G, Cardoso B, Porto B, Minguillon J, Barbot J, et al.
PLoS One
. 2015 Oct;
10(10):e0139740.
PMID: 26466379
Fanconi anaemia (FA) is an inherited disorder characterized by chromosomal instability. The phenotype is variable, which raises the possibility that it may be affected by other factors, such as epigenetic...
6.
Teixeira C, Barbot J, Freitas M
Br J Haematol
. 2014 Oct;
168(3):315.
PMID: 25322810
No abstract available.
7.
Aguiar E, Freitas M, Barbot J
Br J Haematol
. 2014 May;
166(4):469.
PMID: 24862439
No abstract available.
8.
Miguel N, Costa E, Santalha Jr M, Lima R, Vizcaino J, Pereira F, et al.
J Pediatr Hematol Oncol
. 2013 Dec;
36(2):134-9.
PMID: 24327126
Introduction: Refractory iron-deficiency anemia with no obvious etiology in pediatric age can be a puzzling problem. Screening of iron malabsorption conditions, including autoimmune atrophic gastritis (AAG), is emerging as a...
9.
Sousa R, Ponte F, Teixeira S, Andrade L, Goncalves C, Barbot J, et al.
Mutat Res
. 2013 Apr;
754(1-2):58-62.
PMID: 23624100
Fanconi Anemia (FA) is a chromosome instability (CI) syndrome, clinically characterized by progressive bone marrow failure and increased cancer predisposition. Lymphocytes from FA patients have hypersensitivity to alkylating agents, particularly...
10.
Santalha Jr M, Costa E, Miguel N, Vizcaino R, Barbot J, Pereira F
J Pediatr Hematol Oncol
. 2013 Mar;
35(4):321-2.
PMID: 23528908
Lymphocytic gastritis (LG) is a chronic inflammatory process of poorly understood pathogenesis. We report the case of a 12-year-old premenstrual girl with refractory iron deficiency anemia in which the oral...