João Lavinha - Dissemin

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Papers authored by João Lavinha

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1997 T. Casals, P. Pacheco, C. Barreto, J. Giménez, Md D. Ramos, S. Pereira, Ja A. Pinheiro, N. Cobos, A. Curvelo, C. Vázquez, H. Rocha, Jl L. Séculi, E. Pérez, J. Dapena, E. Carrilho and 5 other authors

Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients

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1996 Ângela Duarte, Margarida Amaral, Celeste Barreto, Paula Pacheco, João Lavinha

ORCID

Complex cystic fibrosis allele R334W‐R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient

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P. Faustino, J. Lavinha

ORCID

, M. G. Marini, P. Moi

β-Thalassemia mutation at -90c → T impairs the interaction of the proximal CACCC box with both erythroid and nonerythroid factors [6]

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M. J. Peres, M. H. Carreiro, M. C. Machado, T. Seixas, I. Picanço, L. Batalha, J. Lavinha

ORCID

, M. C. Martins

Neonatal screening of hemoglobinopathics in a population resident in Portugal | Rastreio neonatal de hemoglobinopatias numa população residente em Portugal

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P. Pacheco, P. Loureiro, P. Faustino, J. Lavinha

ORCID

Haplotypic heterogeneity of β-thalassaemia IVS I-1 (G→A) mutation in Southern Portugal [1]

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1995 P. Pacheco, M. J. Peres, P. Faustino, C. Pischedda, J. Goncalves, J. Gonclalves, M. Carvajales-Ramos, T. Seixas, M. C. Martins, P. Moi, J. Lavinha

ORCID

β-Thalassaemia unlinked to the β-globin gene interacts with sickle-cell trait in a Portuguese family

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Salomé de Almeida, Edgar de Almeida, Dorien Peters, José Reimão Pinto, Isabel Távora, João Lavinha

ORCID

, Martjn Breuning, Mateus Martins Prata

Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

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Dezs� David

ORCID

, Alice Tavares, Joao Lavinha

ORCID

Characterization of a splicing mutation in the factor VIII gene at the RNA level

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S. Lamy, L. Braga, P. Pacheco, J. Lavinha

ORCID

, G. G. da Costa, N. C. Ferreira

The prevention of hereditary erythrocytic diseases | Profilaxia das doenças hereditárias do eritrócito.

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M. J. Peres, L. Romão, H. Carreiro, I. Picanço, L. Batalha, H. A. Magalhães, M. C. Martins, J. Lavinha

ORCID

Molecular Basis of A-Thalassa in Portugal

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1994 Joāo Goņalves, Paula Faustino, Joāo Lavinha

ORCID

, Lino Rosado, Maria Joio Peres, Maria Do Carmo Martins

An African origin for an “American black” β°-thalassemia mutation?

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Isabel Gonçalves

ORCID

, João Gonçalves, Bruno Périchon, Leonor Osório-Almeida, Rajagopal Krishnamoorthy, João Lavinha

ORCID

A novel mosaic Bantu/Benin/Bantu βs haplotype found in several African populations

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D. David

ORCID

, I. Moreira, Lalloz Mr, M. R. A. Lalloz, Rosa Ha, H. A. V. Rosa, G. de Deus, R. Schwaab, S. Morais, M. J. Diniz, Diniz Mj, M. Campos, D. Johnson, J. Lavinha

ORCID

, E. G. D. Tuddenham

Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism:

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J. Goncalves, J. Lavinha

ORCID

The Y-associated XY275G (low) allele is common among the Portuguese [3]

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1993 S. A. Cox, S. de Almeida, H. Rosa, Gilles Vergnaud

ORCID

, T. Kruse, J. Lavinha

ORCID

The EUROGEM map of human chromosome 16.

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Dezso David

ORCID

, Humberto A. V. Rosa, Susan Pemberton, Maria J. Diniz, Manuel Campos, João Lavinha

ORCID

Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

1992 J. Lavinha

ORCID

, Sampaio, E. da Mata

Diagnosis of Lepore hemoglobinopathy with DNA analysis | Diagnóstico da hemoglobinopatia de Lepore por análise do DNA.

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D. David

ORCID

, C. Mergulhão, I. Capucho, J. Lavinha

ORCID

DNA polymorphisms associated with the factor VIII:C gene in the Portuguese population.

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P. Faustino, L. Osorio-Almeida, J. Barbot, D. Espirito-Santo, J. Goncalves, L. Romao, M. C. Martins, M. M. Marques, J. Lavinha

ORCID

Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β-thalassaemia in the Portuguese population

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J. Lavinha

ORCID

, M. Baiget

β-tathalassemia in spain and portugal: Epidemiology and molecular pathology

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