Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Angelica Moresco"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101239- (2024)
Externí odkaz:
https://doaj.org/article/78022aed64e148c8b4a0aae26c34e1d4
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
https://doi.org/10.1002/pbc.29710
Autor:
Michelle E. Abadingo, Marta Ascurra, Michelle Bishop, Kathleen Calzone, Eva Maria C. Cutiongco-de la Paz, Vajira H.W. Dissanayake, Ghada El-Kamah, Karen Fieggen, Clara L. Gaff, Desalyn L. Johnson, Bruce R. Korf, Dhavendra Kumar, Beatriz de la Fuente, Elly Lynch, Ebner Bon G. Maceda, Saqib Mahmood, Melissa Martyn, A. Middleton, Ximena Montenegro-Garreaud, Angelica Moresco, Helen Mountain, Amy Nisselle, Nicholas Pachter, Carmencita D. Padilla, Ratna Dua Puri, Victor Raggio, Simon Ramsden, J. Roberts, Augusto Rojas-Martinez, Anneke Seller, Alison Taylor-Beadling, Nilam Thakur, Emma Tonkin, Rosa Pardo Vargas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c040306723a03b81c7d83c153c01087e
https://doi.org/10.1016/b978-0-323-98383-9.09991-4
https://doi.org/10.1016/b978-0-323-98383-9.09991-4
Autor:
Desalyn L. Johnson, Bruce R. Korf, Marta Ascurra, Ghada El-Kamah, Karen Fieggen, Beatriz de la Fuente, Saqib Mahmood, Augusto Rojas-Martinez, Ximena Montenegro-Garreaud, Angelica Moresco, Helen Mountain, Nicholas Pachter, Ratna Dua Puri, Victor Raggio, Nilam Thakur, Rosa Pardo Vargas
Medical genetics has historically focused on the management of rare disorders, mostly due to variants in single genes or chromosomes. Advances in genomics, however, are leading to the capability of including genomic approaches more broadly into the p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae966df642ec5f27d9148093d5743fc8
https://doi.org/10.1016/b978-0-323-98383-9.00008-4
https://doi.org/10.1016/b978-0-323-98383-9.00008-4
Autor:
Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for a structural protein that p
Externí odkaz:
https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency is an autosomal recessive disorder. The 21-hydroxylase enzyme P450c21 is encoded by the CYP21A2 gene located on chromosome 6p21.33 within the HLA major histocompatibility com
Externí odkaz:
https://doaj.org/article/ff007f6fa8e74578a6ed33d23e2ade32
Publikováno v:
Revista de la Facultad de Ciencias Médicas de Córdoba, Vol 70, Iss 2 (2013)
Introducción: existe poca información sobre la relación entre tamaño al nacer y altura geográfica ajustada para factores maternos y obstétricos potencialmente confusores. Objetivo: analizar la variación, en función de la altitud geográfica,
Externí odkaz:
https://doaj.org/article/88d75cb0de84473e8e7622829b324572