Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Angélica Moresco"'
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
Autor:
Roxana Marino, Guillermo Notaristefano, Natalia Perez Garrido, Viviana Balbi, Alicia Belgorosky, Angélica Moresco, Maria Gabriela Obregon, Ianina Soria, Pablo Ramírez, Elisa Vaiani, Maria Sol Touzon, Gabriela Finkielstain
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 106:e2789-e2802
Context The syndrome CAH-X is due to a contiguous gene deletion of CYP21A2 and TNXB resulting in TNXA/TNXB chimeras. Objective To analyze TNXB gene status and to clinically evaluate the Ehlers–Danlos syndrome phenotype in a large cohort of Argentin
Publikováno v:
Frontiers in endocrinology. 13
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
Autor:
Juan M. Sendoya, Adriana Fandiño, Andrea S. Llera, Sofía H Vidal, Maria Gabriela Obregon, Marcela D. Mena, Osvaldo L. Podhajcer, Diana Aguilar-Cortes, Angélica Moresco
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Frontiers in Genetics
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Frontiers in Genetics
Purpose: To describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients. Methods: This retrospective study included 132 subjects comprising 95 probands clinically diagnosed with STGD and relatives from
Autor:
Carlos Ferreira, Karina C. Silveira, Virginia Fano, Rosario Ramos Mejía, Cristián García, Cecilia Mellado, Cynthia Silveira, Denise P. Cavalcanti, Maria Dora Jazmin Lacarrubba-Flores, Mariana del Pino, Angélica Moresco, Silvia Caino, Guillermo Lay-Son
Publikováno v:
Am J Med Genet C Semin Med Genet
Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and/or cartilage, usually affecting multiple bones and having a progressive character. In this article, we review the state of clinical and research SD resources
Autor:
Leah Dowsett, Omar A. Abdul-Rahman, Kelly L. Jones, Nicole Fleischer, Leon Mutesa, Babajide Owosela, María Gabriela Obregon, Victoria Huckstadt, Ebenezer Badoe, Bryan Malonga, Ekanem N. Ekure, Neerja Gupta, Ho Ming Luk, Gerarda Cappuccio, Engy A. Ashaat, Alicia Diaz-Kuan, Mona O. El Ruby, Jasmine L.F. Fung, Paul Kruszka, Stephanie Lotz-Esquivel, Nirmala D. Sirisena, Monica Penon Portmann, Carolyn Sian Kitchin, Cedrik Tekendo-Ngongang, Ifeanyi Kanayo Ifeorah, Meow-Keong Thong, Annette Uwineza, Sansan Lee, Yonit A. Addissie, Brian H.Y. Chung, Ivan F M Lo, Dalia Farouk Hussen, Angélica Moresco, Vajira H. W. Dissanayake, Maximilian Muenke, Nicola Brunetti-Pierri, Eloise J. Prijoles, Ramses Badilla-Porras, Roger E. Stevenson, Leticia Cassimiro Batista, Manuel Saborio-Rocafort, Danilo Moretti-Ferreira, Arianne Llamos Paneque
Publikováno v:
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Made available in DSpace on 2021-06-25T10:11:48Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-12-01 National Human Genome Research Institute Rubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function var
Autor:
Joanna Y.L. Tung, Katta M. Girisha, Paul Kruszka, Nicole Fleischer, Engy A. Ashaat, E.V. Badoe, Dalia Farouk Hussen, Neer Shoba Chitrakar, Angélica Moresco, Neveen A. Ashaat, Olufemi Fasanmade, Siddaramappa J. Patil, Mona O. El Ruby, André Mégarbané, Johnathan Watts, Karen Fieggen, Gary T. K. Mok, Dhanya Yesodharan, Milagros M. Dueñas-Roque, Ezana Lulseged, Cedrik Tekendo-Ngongang, Sarah Savage, Saumya Shekhar Jamuar, Vajira H. W. Dissanayake, Nirmala D. Sirisena, Sultana M.H. Faradz, Antonio Richieri-Costa, Kelly L. Jones, Jasmine Chew Yin Goh, Brenda C. Iriele, María Beatriz de Herreros, Brian H.Y. Chung, Godfrey Mutashambara Rwegerera, María Gabriela Obregon, Yonit A. Addissie, Nydia Rena Benita Sihombing, Teresa Aravena, Shubha R. Phadke, Victoria Huckstadt, C. Sampath Paththinige, Meow-Keong Thong, Neerja Gupta, Agustini Utari, Sheela Nampoothiri, Elizabeth Eberechi Oyenusi, Ekanem N. Ekure, Maximilian Muenke, Rupesh Mishra, Oluwarotimi Bolaji Olopade, Annette Uwineza, Vorasuk Shotelersuk, Ambroise Wonkam
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Am J Med Genet A
Universidade de São Paulo (USP)
instacron:USP
Am J Med Genet A
Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. TS presents with short stature, infertility secondary to ovarian dysgenesis, cardiac and renal anomalies, cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf516dfd88789c7ce7186e90a9e30000
Autor:
Giuseppe Zampino, Anwar Baban, Fanny Kortüm, Antonio Novelli, Kerstin Kutsche, Marcello Niceta, Roberta Onesimo, Chiara Leoni, Katja Dumić Kubat, Maria Cristina Digilio, Monia Magliozzi, Maria Gabriela Obregon, Marco Tartaglia, Maria Lisa Dentici, Stephen P. Robertson, Angélica Moresco
Cantú syndrome (CS) is a rare developmental disorder characterized by a coarse facial appearance, macrocephaly, hypertrichosis, skeletal and cardiovascular anomalies and caused by heterozygous gain-of-function variants in ABCC9 and KCNJ8, encoding s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::392783b53c15a635029e109c55b5ac55
http://hdl.handle.net/10807/166647
http://hdl.handle.net/10807/166647