Publications by authors named "Jose Barbot"

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A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature.
Annalisa Frattini, Giovanni Micheloni, Antonio Musio, Marika Bini Antunes, José Barbot

Am J Med Genet A· February 2025

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Spectrum of mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, Joseph C Roney, Jenny Serra-Vinardell, Jose Barbot

J Med Genet· February 2024

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Marked acanthocytosis in the setting of Klippel-Trenaunay syndrome: A case report.
Hugo Cruz, Ana Maria Ferreira, Emília Costa, José Barbot, Maria Inês Freitas

Int J Lab Hematol· February 2019

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Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis.
Rosa Sousa, Cristina Gonçalves, Isabel Couto Guerra, Emília Costa, Ana Fernandes, José Barbot

Orphanet J Rare Dis· July 2016

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Epigenetic Alterations in Fanconi Anaemia: Role in Pathophysiology and Therapeutic Potential.
Hélio Belo, Gabriela Silva, Bruno A Cardoso, Beatriz Porto, Jordi Minguillon, José Barbot

PLoS One· June 2016

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From blood film to the diagnosis of rare hereditary disorders.
Cláudia Teixeira, José Barbot, Maria Inês Freitas

Br J Haematol· February 2015

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Different haematological picture of congenital sideroblastic anaemia in a hemizygote and a heterozygote.
Eliana Aguiar, Maria Inês Freitas, José Barbot

Br J Haematol· August 2014

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Refractory iron-deficiency anemia and autoimmune atrophic gastritis in pediatric age group: analysis of 8 clinical cases.
Natalina Miguel, Emília Costa, Marta Santalha, Rosa Lima, José Ramon Vizcaino, José Barbot

J Pediatr Hematol Oncol· March 2014

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Fosfomycin increases chromosome instability in lymphocytes from Fanconi Anemia patients.
Rosa Sousa, Filipa Ponte, Sara Teixeira, Lara Andrade, Cristina Gonçalves, José Barbot

Mutat Res· June 2013

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Iron deficiency anemia due to lymphocytic gastritis with Helicobacter pylori infection in childhood: case report.
Marta F F Santalha, Emília Costa, Natalina Miguel, Ramón Vizcaíno, José Barbot

J Pediatr Hematol Oncol· May 2013

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Hb Iberia [α104(G11)Cys → Arg,TGC>CGC (α2) (HBA2:c.313T>C)], a new α-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases.
Celeste Bento, Ana Catarina Oliveira, Joana Neves, Mariline Gameiro, Elizabete Cunha, José Barbot

Hemoglobin· April 2013

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Infantile pyknocytosis: an under-recognized form of neonatal hemolytic anemia?
Maria Coutinho, Emília Costa, Tânia Monteiro, Gisela Silva, Helena Costa, José Barbot

Lab Hematol· December 2012

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Erythrophagocytosis by neutrophils in paroxysmal cold haemoglobinuria.
Filipe Santos, Emília Costa, Ricardo M Pinto, José Barbot, Inês Freitas

Eur J Haematol· October 2012

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Two novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (irida) and partial expression in the heterozygous form.
Rosa M Pellegrino, Maria Coutinho, Domenico D'Ascola, Ana M Lopes, Antonietta Palmieri, José Barbot

Br J Haematol· September 2012

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Improvement of genetic stability in lymphocytes from Fanconi anemia patients through the combined effect of α-lipoic acid and N-acetylcysteine.
Filipa Ponte, Rosa Sousa, Ana Paula Fernandes, Cristina Gonçalves, José Barbot

Orphanet J Rare Dis· May 2012

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Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism?
Gisela Silva, Alexandre Braga, Banquart Leitão, Abel Mesquita, Aurélio Reis, José Barbot

Am J Med Genet A· March 2012

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[Fanconi anemia: cytogenetic diagnosis of 40 cases].
Beatriz Porto, Rosa Sousa, Filipa Ponte, Ana Torgal, Fernando Campilho, José Barbot

Acta Med Port· February 2012

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Erythropoiesis versus inflammation in Hereditary Spherocytosis clinical outcome.
Susana Rocha, Elísio Costa, Petronila Rocha-Pereira, Fátima Ferreira, Esmeralda Cleto, José Barbot

Clin Biochem· September 2011

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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Maria Castella, Roser Pujol, Elsa Callén, Juan P Trujillo, José A Casado, José Barbot

Blood· April 2011

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Complementary markers for the clinical severity classification of hereditary spherocytosis in unsplenectomized patients.
Susana Rocha, Elísio Costa, Petronila Rocha-Pereira, Fátima Ferreira, Esmeralda Cleto, José Barbot

Blood Cells Mol Dis· February 2011

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Erythrocyte membrane protein destabilization versus clinical outcome in 160 Portuguese Hereditary Spherocytosis patients.
Susana Rocha, Elísio Costa, Petronila Rocha-Pereira, Fátima Ferreira, Esmeralda Cleto, José Barbot

Br J Haematol· June 2010

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Hereditary spherocytosis and the (TA)nTAA polymorphism of UGT1A1 gene promoter region--a comparison of the bilirubin plasmatic levels in the different clinical forms.
Susana Rocha, Elísio Costa, Fátima Ferreira, Esmeralda Cleto, José Barbot

Blood Cells Mol Dis· April 2010

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FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function.
Aude Magerus-Chatinet, Marie-Claude Stolzenberg, Maria S Loffredo, Bénédicte Neven, Catherine Schaffner, José Barbot

Blood· March 2009

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Audiologic abnormalities of Fanconi anaemia.
Maria José Vale, Maria José Dinis, Marika Bini-Antunes, Beatriz Porto, José Barbot

Acta Otolaryngol· September 2008

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Presence of cytosolic peroxiredoxin 2 in the erythrocyte membrane of patients with hereditary spherocytosis.
Susana Rocha, Rui M P Vitorino, Francisco M Lemos-Amado, Elisabeth Bayer Castro, Petronila Rocha-Pereira, José Barbot

Blood Cells Mol Dis· August 2008

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