Výsledky vyhledávání - "Alexandra Estevinho"

Akademický článek

Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency

Autor: Ana Raquel Neves, Ana Sofia Pais, Susana Isabel Ferreira, Vera Ramos, Maria João Carvalho, Alexandra Estevinho, Eunice Matoso, Fernanda Geraldes, Isabel Marques Carreira, Fernanda Águas

Publikováno v: Acta Médica Portuguesa, Vol 34, Iss 9 (2021)

Introduction: Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic

Externí odkaz: https://doaj.org/article/535b1a1488a34035a7e03fd686771bf9

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Prevalência de Anomalias Citogenéticas e da Pré-Mutação do Gene FMR1 numa População Portuguesa com Insuficiência Ovárica Prematura

Autor: Ana Raquel Neves, Susana Isabel Ferreira, Fernanda Águas, Maria João Carvalho, Fernanda Geraldes, Alexandra Estevinho, Eunice Matoso, Vera Ramos, Ana Sofia Pais, Isabel M. Carreira

Publikováno v: Acta Médica Portuguesa; v. 34, n. 9 (2021): Setembro; 580-585
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Acta Médica Portuguesa, Vol 34, Iss 9, Pp 580-585 (2021)

Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic cases and up

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c18b98404bd0863511cb0e22b359a79
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490

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Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene

Autor: Isabel M. Carreira, Joana B. Melo, Jorge M. Saraiva, Lina Ramos, Alexandra Estevinho

Publikováno v: Molecular Cytogenetics

Background Wide genome screening through array comparative genomic hybridization made possible the recognition of the novel 19q13.11 deletion syndrome. There are very few cases reported with this deletion, but clinically this condition seems to be re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c04ed0d877c618c9bc47a6e36d0a1c32
http://europepmc.org/articles/PMC4399573

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Title Page / Table of Contents / Preface

Autor: Benvindo Justiça, E. Segalés, Gloria Saccani, Evy Bashardi, Andrew N. Nicolaides, Armando Tripodi, T. Fenyvesi, G. Origliani, J. Vermylen, R. Rossi, A. Nemmar, Alexander Koshkaryev, Silvia Navarro, S. Béguin, Francesco Violi, Tiziana Garofano, Antonella Tufano, Uri Seligsohn, Fabrizio Fabris, H.C. Hemker, G. Vilahur, Franco Semprini, R. Abbate, S. Fedi, Saul Yedgar, Sara Morais, C. Fatini, Licia Iacoviello, Irène Juhan-Vague, F. Gensini, Helga Grafenhofer, P. Giesen, S. Coccheri, B. Nemery, P. Carrasco, T. Grimaldi, Jacqueline Conard, G. Fantini, Ida Martinelli, Chiara Melloni, F.R. Rosendaal, Francesco Fallani, Gordon D.O. Lowe, E. Sticchi, Mónica Pereira, Joseph Loscalzo, J.I. Abad, V. Regnault, Juan Carlos Souto, T. Lecompte, Gregory Barshtein, Giovanni Romeo, V.V. Kakkar, Ingrid Pabinger, Ebrahim Shah, Giovanni Di Minno, A. De Fabritiis, F. Sofi, Pilar Medina, Alexandra Estevinho, Matteo Nicola Dario Di Minno, Justo Aznar, E. Conti, Grigoris T. Gerotziafas, George Geroulakos, E. de Smed, Maria Assunta Silvestri, Giuseppe G. Nenci, Fabio M. Pulcinelli, Luisa Lenti, Ismail Elalamy, B. Cosmi, Pierre Morange, Amparo Estellés, Angelo Branzi, Marie-Christine Alessi, Andrew H. Baker, Roberto Catasca, Raymond Verhaeghe, Samuele Nanni, V. Llorente, Francisco España, Andrea Ghiselli, F. Coppi, Domenico Prisco, Manuel Campos, M.F. Hoylaerts, P. Poredoš, Meyer Michel Samama, Stavros K. Kakkos, Giovanni Melandri, José Miguel P. Ferreira de Oliveira, Maura Griffin, David A. Lane, R. AlDieri, Augusto Di Castelnuovo, Serenella Rotondo, L. Badimon, J.J. Badimon, Giovanna Marchetti, Antonella Marcoccia, M.G. Modena, Henrik Sillesen, Joseph Emmerich, Daniela Turchetti, Luigina R. Mollica, Giovanni de Gaetano, Rossella Marcucci, Maria Benedetta Donati, José Manuel Cabeda, Pasquale Pignatelli, Giuseppe Germanò, Pierluigi Tricoci, J. Harenberg, Marie Hélène Horellou, Gianni Belcaro, Antonio Girolami, Bruno Girolami, R. Wagenvoord, Francesco Bernardi, M. Verstraete, P.M. Mannucci, Jean-Noël Fiessinger, I. Jörg, Irene Pereira

Publikováno v: Pathophysiology of Haemostasis and Thrombosis. 33:I-VII

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c261486ca3fa33da12ed9ec5e846f52f
https://doi.org/10.1159/000073275

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Advances in the genotyping of thrombosis genetic risk factors: clinical and laboratory implications

Autor: Sara Morais, Alexandra Estevinho, José Miguel P. Ferreira de Oliveira, Irene Pereira, Benvindo Justiça, Manuel Campos, Mónica Pereira, José Manuel Cabeda

Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

Since FV-Leiden polymorphism was first described in 1994, a growing number of polymorphic loci have been identified in association with increased genetic risk for thrombophilia. Often however, these risk factors have been studied in isolation of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c5504eab6ad4a615f869d74c036ed43
https://doi.org/10.1159/000073572

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Programação de operações em armazéns automáticos

Autor: Rodrigues, Paula Alexandra Estevinho

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
CIÊNCIAVITAE

Dissertação de Mestrado em Engenharia Industrial
Esta tese tem por objectivo estudar o planeamento do carregamento de camiões num grande armazém automático do tipo AS/RS (Automatic Storage/Retrieval System), que é controlado por um sistema

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ea21805854ac934e3619645f74e67f26

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Clinicobiological, immunophenotypic, and molecular characteristics of monoclonal CD56‐/+dim chronic natural killer cell large granular lymphocytosis

Autor: Alexandra Estevinho, Ana Helena Santos, Alberto Orfao, Maria dos Anjos Teixeira, Marcos González, Luciana Pinho, Paloma Bárcena, Sónia Fonseca, Ana Balanzategui, Maria del Carmen Alguero, José Manuel Cabeda, Benvindo Justiça, Maria Luís Queirós, Jesús F. San Miguel, Margarida Lima, Julia Almeida, Maria Luís Amorim, Andrés Celestino García Montero

Publikováno v: CIÊNCIAVITAE
Scopus-Elsevier
Europe PubMed Central
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

Am J Pathol. 2004 Oct;165(4):1117-27. Clinicobiological, immunophenotypic, and molecular characteristics of monoclonal CD56-/+dim chronic natural killer cell large granular lymphocytosis. Lima M, Almeida J, Montero AG, Teixeira Mdos A, Queirós ML, S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8da836402a338077ddde7d5bc247b63
https://hdl.handle.net/10400.16/567

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Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal

Autor: Alexandra Estevinho, José Manuel Cabeda, Benvindo Justiça, Carla Simoes, Maria Luís Amorim, Luciana Pinho, Cristina Correia

Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

We characterized the genetic nature of beta-thalassaemia in northern Portugal. Of the 164 patients studied three were beta-thalassaemia major cases (one IVS-1-6/beta degrees 39 and two homozygous IVS-1-110). The analysis of the frequency of each muta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a92a4033cfbcaf572ab3e77fa35fc39e
https://pubmed.ncbi.nlm.nih.gov/10671033

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Contents Vol. 32, 2002

Autor: Giovanna Marchetti, Antonella Marcoccia, Domenico Prisco, Giovanni Melandri, J.J. Badimon, Mónica Pereira, Justo Aznar, Angelo Branzi, Roberto Catasca, Francesco Violi, Licia Iacoviello, P.M. Mannucci, Andrew N. Nicolaides, Jean-Noël Fiessinger, Francisco España, Gregory Barshtein, Fabrizio Fabris, Luisa Lenti, Maria Assunta Silvestri, Matteo Nicola Dario Di Minno, S. Coccheri, Samuele Nanni, F. Coppi, F.R. Rosendaal, T. Fenyvesi, Alexander Koshkaryev, M.F. Hoylaerts, Luigina R. Mollica, Andrea Ghiselli, Alexandra Estevinho, A. De Fabritiis, Silvia Navarro, P. Poredoš, Irène Juhan-Vague, H.C. Hemker, Pierluigi Tricoci, José Manuel Cabeda, R. Abbate, G. Vilahur, Antonella Tufano, P. Carrasco, S. Fedi, J. Harenberg, Tiziana Garofano, Fabio M. Pulcinelli, M.G. Modena, Saul Yedgar, Juan Carlos Souto, Henrik Sillesen, B. Cosmi, Meyer Michel Samama, Raymond Verhaeghe, Ingrid Pabinger, P. Giesen, Ebrahim Shah, Pasquale Pignatelli, Giuseppe Germanò, David A. Lane, Jacqueline Conard, Augusto Di Castelnuovo, T. Grimaldi, Pierre Morange, Marie-Christine Alessi, José Miguel P. Ferreira de Oliveira, Daniela Turchetti, Gloria Saccani, V. Regnault, Joseph Emmerich, Giovanni de Gaetano, Rossella Marcucci, Maria Benedetta Donati, Manuel Campos, J. Vermylen, Marie Hélène Horellou, Ida Martinelli, Serenella Rotondo, R. AlDieri, E. Sticchi, Giuseppe G. Nenci, F. Sofi, Sara Morais, Helga Grafenhofer, F. Gensini, C. Fatini, Chiara Melloni, Franco Semprini, R. Wagenvoord, Francesco Bernardi, M. Verstraete, I. Jörg, Grigoris T. Gerotziafas, Gianni Belcaro, Antonio Girolami, Bruno Girolami, Gordon D.O. Lowe, Joseph Loscalzo, Giovanni Romeo, V.V. Kakkar, Giovanni Di Minno, Irene Pereira, Benvindo Justiça, Ismail Elalamy, T. Lecompte, G. Fantini, Francesco Fallani, Pilar Medina, V. Llorente, L. Badimon, E. Conti, Armando Tripodi, G. Origliani, R. Rossi, Stavros K. Kakkos, Maura Griffin, George Geroulakos, E. de Smed, A. Nemmar, Amparo Estellés, Andrew H. Baker, Uri Seligsohn, B. Nemery, S. Béguin, J.I. Abad, E. Segalés, Evy Bashardi

Publikováno v: Pathophysiology of Haemostasis and Thrombosis. 32:415-416

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::100b764e0eb46a5344a51ff7f1ed0f82
https://doi.org/10.1159/000073615

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