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Áreas de conocimiento > Ciencias médicas y de la salud > Medicina Básica > Genética Humana

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Artículo 17alpha-hydroxylase deficiency : biochemical and molecular findings in two sisters and their family

Perez, Maria S.; Benencia, Haydee Julieta; Frechtel, Gustavo Daniel; Esteban, Eduardo O.; Gil, Maria Christina; Targovnik, Hector Manuel ; Marquez, Norma B. (Springer, 2012-12)
Artículo A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG

Delgado, M. A.; Martinez Domenech, G.; Sarrión, P.; Urreizti, R.; Zecchini, L.; Robledo, H. H.; Segura, F.; Dodelson de Kremer, Raquel; Balcells, S.; Grinberg, D.; Asteggiano, Carla Gabriela (Nature Publishing Group, 2014-07)
Artículo A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case–control study

Urreizti, Roser; Asteggiano, Carla Gabriela ; Vilaseca, Maria Antonia; Corbella, Emili; Pintó, Xavier; Grinberg, Daniel; Balcells, Susana (Pergamon-Elsevier Science Ltd, 2007-08)
Artículo A combination of five short tandem repeats of chromosome 15 significantly improves the identification of Prader-Willi syndrome etiology in the Argentinean population

Araoz, Hilda Veronica ; Torrado, M.; Barreiro, C.; Chertkoff, Lilien Patricia (Fundacao de Pesquisas Científicas de Riberao Preto, 2006-06)
Artículo A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas

Rodriguez Quiroga, Sergio; Zavala, Lucía ; Perez Maturo, Josefina ; González Morón, Dolores ; Garretto, Nelida Susana; Kauffman, Marcelo Andres (Wiley-Blackwell, 2020-03)
Artículo A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target?

Mayorga, Lía ; Gamboni, Beatriz; Mampel, Alejandra; Roque Moreno, Maria (Academic Press Inc Elsevier Science, 2018-03)
Artículo A genome-wide association study identifies novel susceptibility loci in chronic Chagas cardiomyopathy

Casares Marfil, Desiré; Strauss, Mariana ; Boch Nicolau,Pou; Lo Presti, Maria Silvina ; Molina, Israel; Chevillard, Christophe; Cunha Neto, Edecio; Sabino, Ester; Ribeiro, Antonio Luiz Pinho; González, Clara Isabel; Martín, Javier; Acosta Herrera, Marialbert (University of Chicago Press, 2021-08-15)
Artículo A genome‐wide association study identifies novel gene associations with facial skin wrinkling and mole count in Latin Americans

Chen, Y.; André, M.; Adhikari, K.; Blin, M.; Bonfante, B.; Mendoza Revilla, J.; Fuentes Guajardo, M.; Palmal, S.; Chacón Duque, J.C.; Hurtado, M.; Villegas, V.; Granja, V.; Jaramillo, C.; Arias, W.; Lozano, R. B.; Everardo Martínez, P.; Gómez Valdés, J.; Villamil Ramírez, H.; Cerqueira, C. C. S.; Hünemeier, T.; Ramallo, Virginia ; Gonzalez-Jose, Rolando ; Schüler Faccini, Lavinia; Bortolini, Maria Catira; Acuña Alonzo, V; Canizales Quinteros, S.; Gallo, C.; Poletti, G.; Bedoya, G.; Rothhammer, F.; Balding, D.; Tobin, D. J.; Wang, S.; Faux, P.; Ruiz Linares, A. (Wiley Blackwell Publishing, Inc, 2021-07)
Artículo A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function

Salpietro, Vincenzo; Efthymiou, Stephanie; Manole, Andreea; Maurya, Bhawana; Wiethoff, Sarah; Ashokkumar, Balasubramaniem; Cutrupi, Maria Concetta; Dipasquale, Valeria; Manti, Sara; Botia, Juan A.; Ryten, Mina; Vandrovcova, Jana; Bello, Oscar Daniel ; Bettencourt, Conceicao; Mankad, Kshitij; Mukherjee, Ashim; Mutsuddi, Mousumi; Houlden, Henry (Wiley-liss, div John Wiley & Sons Inc., 2018-02)
Artículo A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13

Leslie, Elizabeth J.; Carlson, Jenna C.; Shaffer, John R.; Feingold, Eleanor; Wehby, George; Laurie, Cecelia A.; Jain, Deepti; Laurie, Cathy C.; Doheny, Kimberly F.; McHenry, Toby; Resick, Judith; Sanchez, Carla; Jacobs, Jennifer; Emanuele, Beth; Vieira, Alexandre R.; Neiswanger, Katherine; Lidral, Andrew C.; Valencia- Ramirez, Luz Consuelo; Lopez-Palacio, Ana Maria; Valencia, Dora Rivera; Arcos-Burgos, Mauricio; Czeizel, Andrew E.; Field, L. Leigh; Padilla, Carmencita D.; Maria, Eva; Cutiongco de la Paz, C.; Deleyiannis, Frederic; Christensen, Kaare; Munger, Ronald G.; Lie, Rolv T.; Wilcox, Allen; Romitti, Paul A.; Castilla, Eduardo Enrique ; Mereb, Juan C.; Poletta, Fernando Adrián ; Orioli, Ieda Maria; Martinez de Carvalho, Flavia; Hecht, Jacqueline T.; Blanton, Susan H.; Buxó, Carmen J.; Butali, Azeez; Mossey, Peter A.; Adeyemo, Wasiu L.; James, Olutayo; Braimah, Ramat O.; Aregbesola, Babatunde S.; Eshete, Mekonen A.; Abate, Fikre; Koruyucu, Mine; Seymen, Figen; Ma, Lian; de Salamanca, Javier Enríquez; Weinberg, Seth M.; Moreno, Lina; Murray, Jeffrey C.; Marazita, Mary L. (Oxford University Press, 2016-07)
Artículo A mutation inactivating the distal SF1 binding site on the human anti-Müllerian hormone promoter causes persistent Müllerian duct syndrome

Schteingart, Helena Fedora ; Picard, Jean Yves; Valeri, Clara ; Marshall, Ian; Treton, Dominique; di Clemente, Nathalie; Rey, Rodolfo Alberto ; Josso, Nathalie (Oxford University Press, 2019-06)
Artículo A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects

Acosta Uribe, Juliana; Aguillón, David; Cochran, J. Nicholas; Giraldo, Margarita; Madrigal, Lucía; Killingsworth, Bradley W.; Singhal, Rijul; Labib, Sarah; Alzate, Diana; Velilla, Lina; Moreno, Sonia; García, Gloria P.; Saldarriaga, Amanda; Piedrahita, Francisco; Hincapié, Liliana; López, Hugo E.; Perumal, Nithesh; Morelo, Leonilde; Vallejo, Dionis; Solano, Juan Marcos; Reiman, Eric M.; Surace, Ezequiel Ignacio ; Itzcovich, Tatiana; Allegri, Ricardo Francisco ; Sánchez Valle, Raquel; Villegas Lanau, Andrés; White, Charles L.; Matallana, Diana; Myers, Richard M.; Browning, Sharon R.; Lopera, Francisco; Kosik, Kenneth S. (BioMed Central, 2022-03)
Artículo A New Case of Congenital Goiter with Hypothyroidism Caused by a Homozygous p.R277X Mutation in the Exon 7 of the Thyroglobulin Gene: A Mutational Hot Spot Could Explain the Recurrence of This Mutation

Rivolta, Carina Marcela ; Moya, Christian M.; Gutnisky, Viviana J.; Varela, Viviana ; Miralles García, José M.; Gonzalez Sarmiento, Rogelio; Targovnik, Hector Manuel (Endocrine Society, 2005-06)
Artículo A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism

Citterio, Cintia Eliana ; Coutant, Regis; Rouleau, Stephanie; Miralles García, José M.; González Sarmiento, Rogelio; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Wiley Blackwell Publishing, Inc, 2011-04)
Artículo A new dual translocation of chromosome 14 in a pediatric Burkitt lymphoma/leukemia patient: t(8;14) and t(14;15)

Quatrin, Mariana; Pasti, Claudia; Romano, Silvina; Iarossi, Belén; Giménez, Vanesa; Schuttenberg, Virginia; Costa, Alejandra; Slavutsky, Irma Rosa (Elsevier, 2021-11)
Artículo A newborn with partial pure trisomy of chromosome 7q inherited from paternal balanced translocation with congenital anomalies. a mini review

Siewert, Susana Elfrida; Della Vedova, Maria Cecilia ; Guillamondegui, M. J.; Drut, M.; Brezigar A.; Cardetti, M.; Marsá, S.M. (Somil Shah, 2018-04)
Artículo A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

Favaro, Francine P.; Alvizi, Lucas; Zechi Ceide, Roseli M.; Bertola, Debora; Felix, Temis M.; de Souza, Josiane; Raskin, Salmo; Twigg, Stephen R. F.; Weiner, Andrea Maria Julia ; Armas, Pablo ; Margarit, Ezequiel ; Calcaterra, Nora Beatriz ; Andersen, Gregers R.; McGowan, Simon J.; Wilkie, Andrew O. M.; Richieri Costa, Antonio; de Almeida, Maria L. G.; Passos Bueno, Maria Rita (Cell Press, 2014-01)
Artículo A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

van der Lee, Sven J.; Conway, Olivia J.; Jansen, Iris; Carrasquillo, Minerva M.; Kleineidam, Luca; van den Akker, Erik; Hernández, Isabel; van Eijk, Kristel R.; Stringa, Najada; Chen, Jason A.; Zettergren, Anna; Andlauer, Till F. M.; Diez Fairen, Monica; Simon Sanchez, Javier; Lleó, Alberto; Zetterberg, Henrik; Nygaard, Marianne; Blauwendraat, Cornelis; Savage, Jeanne E.; Mengel From, Jonas; Moreno Grau, Sonia; Wagner, Michael; Fortea, Juan; Keogh, Michael J.; Blennow, Kaj; Skoog, Ingmar; Friese, Manuel A.; Pletnikova, Olga; Zulaica, Miren; Dalmasso, Maria Carolina (Springer, 2019-05-26)
Artículo A novel 1297–1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor β gene causes resistance to thyroid hormone

Rivolta, Carina Marcela ; Mallea Gil, M. Susana; Ballarino, Carolina; Ridruejo, M. Carolina; Miguel, Carlos M.; Gimenez, Silvia B.; Bernacchi, Silvia S.; Targovnik, Hector Manuel (Springer, 2012-12-01)
Artículo A Novel Missense Mutation in the SH2 Domain of the STAT5B Gene Results in a Transcriptionally Inactive STAT5b Associated with Severe IGF-I Deficiency, Immune Dysfunction, and Lack of Pulmonary Disease

Scaglia, Paula Alejandra ; Martinez, Alicia Susana ; Feigerlová, Eva; Bezrodnik, Liliana ; Gaillard, María Isabel; Di Giovanni, Daniela; Ballerini, Maria Gabriela; Jasper, Hector Guillermo ; Heinrich, Juan Jorge; Fang, Peng; Domene, Horacio Mario ; Rosenfeld, Ron G.; Hwa, Vivian (Endocrine Society, 2012-07)

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