Zobrazeno 1 - 10 of 87 pro vyhledávání: '"Irene Szijan"'
1
Akademický článek
Prognostic value of mutations in isocitrate dehydrogenase 1 (IDH1) and reverse telomerase transcriptase (TERT) in Argentine patients` gliomas
Autor: Pedro Tomás Funes, Daniela Moggia, Diana Lidia Parma, Marcela Ferrer, Florencia Giliberto, Irene Szijan
Publikováno v: ARS Medica, Vol 46, Iss 1 (2021)
Background and aim: Gliomas are the most common primary brain tumors, and they are classified according to their histopathological and genetic features. Tumorigenesis depends on alterations in different genes. The aim of this study was to identify mu
Externí odkaz: https://doaj.org/article/42acf2c33eb14e7cbf817c588c0d4679
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2
Akademický článek
RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.
Autor: Diana Parma, Marcela Ferrer, Leonela Luce, Florencia Giliberto, Irene Szijan
Publikováno v: PLoS ONE, Vol 12, Iss 12, p e0189736 (2017)
Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ relatives. Retinoblastoma
Externí odkaz: https://doaj.org/article/c1f65deb301f4c55be4ae6c33a0e5cb6
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3
Subsequent malignant neoplasms in the pediatric age in retinoblastoma survivors in Argentina
Autor: Gabriela Villanueva, Claudia Sampor, Florencia Moreno, Daniel Alderete, Angelica Moresco, Natalia Pinto, Irene Szijan, Paula Schaiquevich, María Sara Felice, Adriana Rose, Pedro Zubizarreta, Mariana Sgroi, Adriana Fandiño, Guillermo Chantada
Publikováno v: Pediatric Blood & Cancer. 69
Retinoblastoma survivors in low- and middle-income countries are exposed to high-intensity treatments that potentially place them at higher risk of early subsequent malignant neoplasms (SMNs).We followed 714 (403 [56.4%] nonhereditary and 311 [43.5%]
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::493fb7c4c062be2bfc2311baceb2179b
https://doi.org/10.1002/pbc.29710
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4
Recurrent somatic chromosomal abnormalities in relapsed extraocular retinoblastoma
Autor: Rosario Aschero, Lauriane Lemelle, Daiana Ganiewich, Santiago Zugbi, Claudia Sampor, Genoveva Correa Llano, Gabriela Lamas, Soledad Gomez-Gonzalez, Guillermo Chantada, Osvaldo L. Podhajcer, Fabiana Lubieniecki, F. Radvanyi, Paula Schaiquevich, Cinzia Lavarino, Ursula Winter, David H. Abramson, Marcela D. Mena, Jasmine H. Francis, Daniela Ottaviani, Andrea S. Llera, Jaume Mora, Irene Szijan, François Doz
Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Cancers
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Volume 13
Issue 4
Cancers, Vol 13, Iss 673, p 673 (2021)
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Most reports about copy number alterations (CNA) in retinoblastoma relate to patients with intraocular disease and features of children with extraocular relapse remain unknown, so we aimed to describe the CNA in this population. We evaluated 23 patie
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e5414eae3dc889efda24ea6e358b2c6
https://www.mdpi.com/2072-6694/13/4/673
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5
Analysis of complex structural variants in the DMD gene in one family
Autor: Chiara Mazzanti, Liliana Francipane, Carlos Daniel de Brasi, Leonela Natalia Luce, Florencia Giliberto, Sebastián Menazzi, Pablo Lapunzina, Irene Szijan, Micaela Carcione, Liliana Carmen Rossetti, Julián Nevado, M. M. Abelleyro, Pamela Radic
Publikováno v: Neuromuscular disorders : NMD. 31(3)
This work describes a family with Duchenne muscular dystrophy (DMD) with a rare case of a symptomatic pregnant woman. The main aim was to perform prenatal molecular diagnosis to provide genetic counseling. The secondary aim was to suggest the molecul
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f72edb5b82728a83bb2bea130fd931f
https://pubmed.ncbi.nlm.nih.gov/33451931
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7
Minimal disseminated disease evaluation and outcome in trilateral retinoblastoma
Autor: Ana Vanesa Torbidoni, Guillermo L. Chantada, Viviana E. Laurent, Saipriya Iyer, Rosario Aschero, Irene Szijan, Claudia Sampor, Daniel Fernando Alonso, Daniel Alderete, Jorge Rossi
Publikováno v: British Journal of Ophthalmology. 102:1597-1601
Trilateral retinoblastoma (TRb) presents a management challenge, since intracranial tumours are seldom times resectable and quickly disseminate. However, there are no risk factors to predict the final outcome in each patient. Objective To evaluate mi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86459bde3699b58bc2a3595de216f6b5
https://doi.org/10.1136/bjophthalmol-2018-312263
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8
Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort
Autor: Marcela Maria Ferrer, Florencia Giliberto, Irene Szijan, María Micaela Carcione, Chiara Mazzanti, Leonela Natalia Luce
Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical diagnosis, identify candidates f
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee85e19ce00931deca2b1cea1ec920fb
https://www.sciencedirect.com/science/article/pii/S0960896618301202
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9
RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling
Autor: Irene Szijan, Diana Lidia Parma, Marcela Maria Ferrer, Leonela Natalia Luce, Florencia Giliberto
Publikováno v: PLoS ONE
PLoS ONE, Vol 12, Iss 12, p e0189736 (2017)
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ relatives. Retinoblastoma
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a9a07aa8c677f479a0f2655164cedd4
https://pubmed.ncbi.nlm.nih.gov/29261756
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10
Prenatal diagnosis of duchenne/becker muscular dystrophy by short tandem repeat segregation analysis in argentine families
Autor: Irene Szijan, Marcela Maria Ferrer, Veronica Ferreiro, Florencia Giliberto, Liliana Francipane, Francisco Massot
Publikováno v: Muscle & Nerve. 43:510-517
Introduction: Duchenne/Becker muscular dystrophies (DMD/BMD) are X-linked recessive diseases caused by mutations in the dystrophin gene. Methods: We used multiplex polymerase chain reaction (PCR) and short tandem repeat (STR) segregation analysis for
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::07f2a07d7a6dc0110f0590397730e148
https://doi.org/10.1002/mus.21904
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