Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Luciana Rodrigues Jacy da Silva"'
Autor:
Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, Noelia Sanchez-Bolivar, Olga Zurita, Ascension Gimenez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Corton, Raquel Perez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Avila-Fernandez, Isabel Lorda, Maria J Trujillo-Tiebas, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Carmen Ayuso
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0151943 (2016)
Choroideremia (CHM) is a rare X-linked disease leading to progressive retinal degeneration resulting in blindness. The disorder is caused by mutations in the CHM gene encoding REP-1 protein, an essential component of the Rab geranylgeranyltransferase
Externí odkaz:
https://doaj.org/article/ae448938b8a44fa087fe836d56714519
Autor:
Patricia Ramos, María José Sánchez-Soler, Alison Stewart, Nicolas Chassaing, Jonathan Bruty, Patrick Calvas, Domingo Aguilera-Garcia, Helen Stewart, Dominic J. McMullan, Dorine Bax, Yvonne Wallis, Alan Fryer, Anand Saggar, Carmen Ayuso, Cristina Villaverde, Fabiola Ceroni, Marta Corton, Luciana Rodrigues Jacy da Silva, Lisa Cooper-Charles, Michael J. Griffiths, Victoria McKay, Jonathan Hoffman, Maria Tarilonte, David J. Bunyan, María Juliana Ballesta-Martínez, Nicola K. Ragge, Richard J. Holt, Katherine Lachlan, Fiona Blanco-Kelly, Joelle Roume, Pascal Dureau
Publikováno v:
Human Genetics
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩
International audience; GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::122f27747b3dc12ebac73973e54e0086
https://ut3-toulouseinp.hal.science/hal-03542896
https://ut3-toulouseinp.hal.science/hal-03542896
Autor:
Fiona Blanco-Kelly, Cristina Villaverde, Yichuan Liu, Olga Zurita, Maria Isabel Lopez-Molina, Luciana Rodrigues-Jacy da Silva, Rocío Sánchez-Alcudia, Blanca Garcia-Sandoval, Almudena Avila-Fernandez, Iker Sánchez-Navarro, Carmen Ayuso, Raquel Perez-Carro, Hakon Hakonarson, Marta Corton, Rosa Riveiro-Alvarez, Isabel Lorda, Diana Valverde, Noelia Sanchez-Bolivar, Saoud Tahsin-Swafiri, Lifeng Tian, Pablo Minguez
Publikováno v:
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
instname
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Inherited syndromic retinopathies are a highly heterogeneous group of diseases that involve retinal anomalies and systemic manifestations. They include retinal ciliopathies, other well-defined clinical syndromes presenting with retinal alterations an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87a4ed274ed8b186167d1bce70c7146c
http://hdl.handle.net/10486/683251
http://hdl.handle.net/10486/683251
Autor:
Luciana Rodrigues-Jacy da Silva, Iker Sánchez-Navarro, Marta Corton, Fiona Blanco-Kelly, Miguel Angel Lopez-Martinez, Carmen Ayuso, Rosa Riveiro-Alvarez
Publikováno v:
BMC Medical Genetics
Background CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy. We
Autor:
María José Trujillo-Tiebas, Blanca Garcia-Sandoval, Luciana Rodrigues-Jacy da Silva, Cristina Villaverde, Simona Torriano, Carlo Rivolta, Almudena Avila-Fernandez, Maria Isabel Lopez-Molina, Olga Zurita, Marta Corton, Noelia Sanchez-Bolivar, Raquel Perez-Carro, Isabel Lorda, Rocío Sánchez-Alcudia, Ascension Gimenez, Miguel Angel Lopez-Martinez, Maria Garcia-Hoyos, Fiona Blanco-Kelly, Carmen Ayuso, Vasiliki Kalatzis, Rosa Riveiro-Alvarez
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0151943 (2016)
PLoS ONE
Plos One, vol. 11, no. 4, pp. e0151943
PLoS ONE
Plos One, vol. 11, no. 4, pp. e0151943
Choroideremia (CHM) is a rare X-linked disease leading to progressive retinal degeneration resulting in blindness. The disorder is caused by mutations in the CHM gene encoding REP-1 protein, an essential component of the Rab geranylgeranyltransferase
Autor:
Silvia S. Costa, Carla Rosenberg, Cleide Largman Borovik, Ana Beatriz Alvarez Perez, Luciana Rodrigues Jacy da Silva, Ana Cristina Victorino Krepischi-Santos
Publikováno v:
Genetics and Molecular Biology v.31 n.2 2008
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 31, Iss 2, Pp 416-422 (2008)
Genetics and Molecular Biology, Volume: 31, Issue: 2, Pages: 416-422, Published: 2008
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 31, Iss 2, Pp 416-422 (2008)
Genetics and Molecular Biology, Volume: 31, Issue: 2, Pages: 416-422, Published: 2008
In about 50% of first trimester spontaneous abortion the cause remains undetermined after standard cytogenetic investigation. We evaluated the usefulness of array-CGH in diagnosing chromosome abnormalities in products of conception from first trimest
Autor:
Raquel Perez-Carro, Laura Campello, Miguel Angel Lopez-Martinez, Joaquín Dopazo, Marta Corton, Nicolás Cuenca, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Rosa Riveiro-Alvarez, Francisco García-García, Laura Fernández-Sánchez, Alejandro Garanto, Noelia Reyes, Esther Martín-Garrido, Rob W.J. Collin, Lonneke Duijkers, Rocío Sánchez-Alcudia, Luciana Rodrigues-Jacy da Silva, Almudena Avila-Fernandez, Carmen Ayuso
Publikováno v:
HUMAN MOLECULAR GENETICS
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
Human Molecular Genetics, 24, 14, pp. 4037-4048
Human Molecular Genetics, 24, 4037-4048
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
Human Molecular Genetics, 24, 14, pp. 4037-4048
Human Molecular Genetics, 24, 4037-4048
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Retinitis pigmentosa (RP) is a group of progressive inherited retinal dystrophies that cause visual impairment as a result of photoreceptor cell death. RP is heterogeneous, both clinically and genetically making difficult to establish precise genotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::937e32f506fc8832d0a9bb61a0a59fdc
https://doi.org/10.1093/hmg/ddv140
https://doi.org/10.1093/hmg/ddv140
Autor:
Mileny E. S. Colovati, Ana Beatriz Alvarez Perez, Salmo Raskin, Bruno Coprerski, Edmar Zanoteli, M. C. M. Oliveira, Carlos Eugênio Fernandez de Andrade, Luciana Rodrigues Jacy da Silva, Maria Isabel Melaragno
Publikováno v:
Neuromuscular Disorders. 23:388-390
We report a 3-year-old female with type I spinal muscular atrophy (SMA) born to a young and non-consanguineous couple. The child presented at two months of life with intense muscle weakness affecting predominantly proximal portions of the limbs, espe
Autor:
Mileny E. S. Colovati, Ana Beatriz Alvarez Perez, Luciana Rodrigues Jacy da Silva, Tatiane I. Mancini, Claudia Berlim de Mello, Sylvia Satomi Takeno, Roberta Santos Guilherme, Maria Isabel Melaragno, A.R.N. Dutra
Publikováno v:
Molecular Cytogenetics, Vol 5, Iss 1, p 5 (2012)
Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
Molecular Cytogenetics
Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
Molecular Cytogenetics
Background The majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, wer
Autor:
Nydia Strachman Bacal, Euripides Ferreira, Joyce Anderson Duffles Andrade, Silvia H. Cardoso, Cleide Largman Borovik, Nelson Hamerschlak, Michele Rorato Sagrillo, Luciana Rodrigues Jacy da Silva, João Carlos de Campos Guerra, Claudia H. N. Graça
Publikováno v:
Revista Brasileira de Hematologia e Hemoterapia v.27 n.2 2005
Revista brasileira de hematologia e hemoterapia
Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron:ABHHTC
Revista brasileira de hematologia e hemoterapia
Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron:ABHHTC
Acute promyelocytic leukemia (APL) accounts for 10 to 15% of acute myeloid leukemias (AML). This type of leukemia (AML-M3 according to the FAB classification) is associated, in about 90% of the cases, with a t(15;17)(q22;q21) translocation, resulting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e92e3fa1e476678713e15ae0c5ce6f5
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842005000200008
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842005000200008