Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Lilian Furforo"'
Autor:
Marisol Delea, Soledad Massara, Carlos David Bruque, Lucía Daniela Espeche, Melisa Ivana Taboas, Pablo Barbero, María Paz Bidondo, Rosa Liascovich, Boris Groisman, Viviana Cosentino, Celeste Martinoli, Lilian Furforo, Mónica Ritler, Emilio Kolomenski, Jaen Oliveri, Paloma Brun, Sandra Rozental, Liliana Beatriz Dain
Publikováno v:
Revista Argentina de Salud Pública, Vol 13, Pp 1-8 (2021)
INTRODUCCIÓN: Las cardiopatías congénitas (CC) son causadas por el desarrollo anómalo del corazón durante el período embriofetal. Abarcan un amplio espectro de anomalías estructurales de las cavidades cardíacas o de los grandes vasos, con una
Externí odkaz:
https://doaj.org/article/ba1122a840d348e9829ccd12849bc8ff
Autor:
Lucía D. Espeche, Sandra Rozental, Jaen Oliveri, Paloma Brun, Lilian Furforo, Lucía S. Massara, Marisol Delea, Carlos David Bruque, Liliana Dain
Publikováno v:
Cytogenetic and Genome Research. 159:137-142
Chromosomal trisomies are the most frequent major chromosomal anomalies in humans and can be present in a mosaic or a non-mosaic constitution. We report the first case of a newborn girl presenting with multiple congenital anomalies and a double mosai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce842a49cc3448f3c56496ad5e095dd7
https://doi.org/10.1159/000504238
https://doi.org/10.1159/000504238
Autor:
Marisol Delea, Soledad Massara, Carlos David Bruque, Lucía Daniela Espeche, Melisa Ivana Taboas, Pablo Barbero, María Paz Bidondo, Rosa Liascovich, Boris Groisman, Viviana Cosentino, Celeste Martinoli, Lilian Furforo, Mónica Ritler, Emilio Kolomenski, Jaen Oliveri, Paloma Brun, Sandra Rozental, Liliana Beatriz Dain
Publikováno v:
Revista Argentina de Salud Pública, Volume: 13, Pages: 81-90, Published: FEB 2021
Revista Argentina de Salud Pública, Vol 13, Pp 1-8 (2021)
Revista Argentina de Salud Pública, Vol 13, Pp 1-8 (2021)
RESUMEN INTRODUCCIÓN: Las cardiopatías congénitas (CC) son causadas por el desarrollo anómalo del corazón durante el período embriofetal. Abarcan un amplio espectro de anomalías estructurales de las cavidades cardíacas o de los grandes vasos,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::38567fd689c5f70a7f71fe8a73110bf8
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1853-810X2021000100081&lng=en&tlng=en
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1853-810X2021000100081&lng=en&tlng=en
Autor:
Jaen Oliveri, Sandra Rozental, Viviana Cosentino, Claudina Picon, Norma Tolaba, Lilian Furforo, Celeste Martinoli, Boris Groisman, Lucía D. Espeche, Lucía S. Massara, Pablo Barbero, Viviana Gutnisky, Marisol Delea, Carlos David Bruque, Paloma Brun, Myriam Perez, Monica Rittler, María Eugenia Ponce Zaldua, Rosa Liascovich, Noemí Buzzalino, María Paz Bidondo, Silvia Ávila, Liliana Dain
Publikováno v:
Genes
Genes, Vol 9, Iss 9, p 454 (2018)
Volume 9
Issue 9
Genes, Vol 9, Iss 9, p 454 (2018)
Volume 9
Issue 9
Congenital conotruncal heart defects (CCHD) are a subset of serious congenital heart defects (CHD) of the cardiac outflow tracts or great arteries. Its frequency is estimated in 1/1000 live births, accounting for approximately 10&ndash
30% of al
30% of al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f79b0ab755137902f740942c5c0e4f8b
http://europepmc.org/articles/PMC6162499
http://europepmc.org/articles/PMC6162499
Autor:
Sandra Colli, Eduardo Rojo Pisarello, Irma Slavutsky, Marcela Maidana, Javier Bordone, Carlos Martín, Lilian Furforo
Publikováno v:
Cancer genetics. 209(4)
Translocation t(4;11)(q21;p15) is a rare recurrent change associated to T-cell acute leukemia. In most cases, this alteration appears as the only abnormality or as part of a simple karyotype. In this report, we present the first case of T acute lymph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8701a14d9dd49d984b4043f47b5f1be
https://pubmed.ncbi.nlm.nih.gov/26883452
https://pubmed.ncbi.nlm.nih.gov/26883452
Publikováno v:
American Journal of Medical Genetics. 64:551-555
We report on a girl with developmental delay, macrocephaly, facial asymmetry, small downturned palpebral fissures, high and narrow palate, micrognathia, short neck, a heart defect, and unilateral renal agenesis. Cytogenetic analysis showed a proximal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55d1e8df084c733bfc457724b6eacd77
https://doi.org/10.1002/(sici)1096-8628(19960906)64:4<551::aid-ajmg5>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960906)64:4<551::aid-ajmg5>3.0.co