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Items: 15

1.

PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome.

Spinazzi M, Radaelli E, Horré K, Arranz AM, Gounko NV, Agostinis P, Maia TM, Impens F, Morais VA, Lopez-Lluch G, Serneels L, Navas P, De Strooper B.

Proc Natl Acad Sci U S A. 2019 Jan 2;116(1):277-286. doi: 10.1073/pnas.1811938116. Epub 2018 Dec 21.

2.

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.

Bianchi P, Fermo E, Glader B, Kanno H, Agarwal A, Barcellini W, Eber S, Hoyer JD, Kuter DJ, Maia TM, Mañu-Pereira MDM, Kalfa TA, Pissard S, Segovia JC, van Beers E, Gallagher PG, Rees DC, van Wijk R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases.

Am J Hematol. 2019 Jan;94(1):149-161. doi: 10.1002/ajh.25325. Epub 2018 Nov 28.

PMID:
30358897
3.

Androgen-dependent alternative mRNA isoform expression in prostate cancer cells.

Munkley J, Maia TM, Ibarluzea N, Livermore KE, Vodak D, Ehrmann I, James K, Rajan P, Barbosa-Morais NL, Elliott DJ.

F1000Res. 2018 Aug 3;7:1189. doi: 10.12688/f1000research.15604.1. eCollection 2018.

4.

Band 3 nullVIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.

Kager L, Bruce LJ, Zeitlhofer P, Flatt JF, Maia TM, Ribeiro ML, Fahrner B, Fritsch G, Boztug K, Haas OA.

Pediatr Blood Cancer. 2017 Mar;64(3). doi: 10.1002/pbc.26227. Epub 2016 Oct 8.

PMID:
27718309
5.

Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study.

Manco L, Bento C, Victor BL, Pereira J, Relvas L, Brito RM, Seabra C, Maia TM, Ribeiro ML.

Blood Cells Mol Dis. 2016 Sep;60:18-23. doi: 10.1016/j.bcmd.2016.06.002. Epub 2016 Jun 11.

PMID:
27519939
6.

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Garate Z, Quintana-Bustamante O, Crane AM, Olivier E, Poirot L, Galetto R, Kosinski P, Hill C, Kung C, Agirre X, Orman I, Cerrato L, Alberquilla O, Rodriguez-Fornes F, Fusaki N, Garcia-Sanchez F, Maia TM, Ribeiro ML, Sevilla J, Prosper F, Jin S, Mountford J, Guenechea G, Gouble A, Bueren JA, Davis BR, Segovia JC.

Stem Cell Reports. 2015 Dec 8;5(6):1053-1066. doi: 10.1016/j.stemcr.2015.10.002. Epub 2015 Nov 5.

7.

Evolution of Mating Systems in Basidiomycetes and the Genetic Architecture Underlying Mating-Type Determination in the Yeast Leucosporidium scottii.

Maia TM, Lopes ST, Almeida JM, Rosa LH, Sampaio JP, Gonçalves P, Coelho MA.

Genetics. 2015 Sep;201(1):75-89. doi: 10.1534/genetics.115.177717. Epub 2015 Jul 14.

8.

Sex in the cold: taxonomic reorganization of psychrotolerant yeasts in the order Leucosporidiales.

de García V, Coelho MA, Maia TM, Rosa LH, Vaz AM, Rosa CA, Sampaio JP, Gonçalves P, van Broock M, Libkind D.

FEMS Yeast Res. 2015 Jun;15(4):fov019. doi: 10.1093/femsyr/fov019. Epub 2015 Apr 22.

PMID:
25903381
9.

Genetic basis of congenital erythrocytosis: mutation update and online databases.

Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, Della Ragione F, Almeida H, Rossi C, Girodon F, Aström M, Neumann D, Schnittger S, Landin B, Minkov M, Randi ML, Richard S, Casadevall N, Vainchenker W, Rives S, Hermouet S, Ribeiro ML, McMullin MF, Cario H; ECE-Consortium, Chauveau A, Gimenez-Roqueplo AP, Bressac-de-Paillerets B, Altindirek D, Lorenzo F, Lambert F, Dan H, Gad-Lapiteau S, Catarina Oliveira A, Rossi C, Fraga C, Taradin G, Martin-Nuñez G, Vitória H, Diaz Aguado H, Palmblad J, Vidán J, Relvas L, Ribeiro ML, Luigi Larocca M, Luigia Randi M, Pedro Silveira M, Percy M, Gross M, Marques da Costa R, Beshara S, Ben-Ami T, Ugo V; ECE-Consortium.

Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22.

PMID:
24115288
10.

Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

Bento C, Almeida H, Maia TM, Relvas L, Oliveira AC, Rossi C, Girodon F, Fernandez-Lago C, Aguado-Diaz A, Fraga C, Costa RM, Araújo AL, Silva J, Vitória H, Miguel N, Silveira MP, Martin-Nuñez G, Ribeiro ML.

Eur J Haematol. 2013 Oct;91(4):361-8. doi: 10.1111/ejh.12170. Epub 2013 Aug 20.

PMID:
23859443
11.

β Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent.

Bento C, Maia TM, Milosevic JD, Carreira IM, Kralovics R, Ribeiro ML.

Haematologica. 2013 Jan;98(1):e4-6. doi: 10.3324/haematol.2012.064097. Epub 2012 Aug 8. No abstract available.

12.

XBAT35, a novel Arabidopsis RING E3 ligase exhibiting dual targeting of its splice isoforms, is involved in ethylene-mediated regulation of apical hook curvature.

Carvalho SD, Saraiva R, Maia TM, Abreu IA, Duque P.

Mol Plant. 2012 Nov;5(6):1295-309. doi: 10.1093/mp/sss048. Epub 2012 May 24.

13.

Polyomavirus-infected decoy cells in cytocentrifuged urine cytology specimens from renal transplant recipients.

Maia TM, Silva SF, Silva SL, Holanda MC, Nascimento JM, Ferreira MV.

Acta Cytol. 2011;55(5):445-8. doi: 10.1159/000329625. Epub 2011 Oct 8.

PMID:
21986172
14.

Respiratory viruses in the pediatric intensive care unit: prevalence and clinical aspects.

Straliotto SM, Siqueira MM, Machado V, Maia TM.

Mem Inst Oswaldo Cruz. 2004 Dec;99(8):883-7. Epub 2005 Mar 4.

15.

Interpregnancy interval and low birth weight: findings from a case-control study.

Ferraz EM, Gray RH, Fleming PL, Maia TM.

Am J Epidemiol. 1988 Nov;128(5):1111-6.

PMID:
3189284

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