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

PRODUCCION CIENTÍFICO TECNOLÓGICA

Mostrando ítems 221-240 de 311

Capítulo de Libro Novel and Uncommon Chromosome Aberrations in Chronic Lymphocytic Leukemia: Cytogenetic, FISH and Clinical Evaluation

Título del libro: Chronic Lymphocytic Leukemia Research Focus

Cerretini, Roxana; Chena, Christian; Slavutsky, Irma Rosa - Otros responsables: Nabhan, Chadi - (Nova Science Publishers, 2007)
Artículo Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5′ splice site in the exon 6

Citterio, Cintia Eliana ; Morales, Cecilia Mariel ; Bouhours Nouet, Natacha; Machiavelli, Gloria Angelica ; Bueno, Elena; Gatelais, Frédérique; Coutant, Regis; González Sarmiento, Rogelio; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Elsevier Ireland, 2015-03)
Artículo Novel dominant variant in STUB1 causing ataxia, movement disorders and cognitive impairment: A complex phenotype mimicking SCA17

Rodríguez Quiroga, Sergio Alejandro; Perez Maturo, Josefina ; Zavala, Lucía ; Kauffman, Marcelo Andres (Elsevier, 2022-07)
Artículo Novel Mutation p.A64D in the Serpina 7 Gene as a Cause of Complete Thyroxine-Binding Globulin Deficiency Associated with Increases Affinity in Transthyretin by a Known p.A109T Mutation in the TTR Gene

Sklate, R. T.; Olcese, María Cecilia; Maccallini, G. C.; Sarmiento, R. G.; Targovnik, Hector Manuel ; Rivolta, Carina Marcela (Georg Thieme Verlag Kg, 2014-02)
Artículo Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

Romero, Delfina Mercedes ; Poirier, Karine; Belvindrah, Richard; Moutkine, Imane; Houllier, Anne; LeMoing, Anne Gaëlle; Petit, Florence; Boland, Anne; Collins, Stephan C.; Soiza Reilly, Mariano ; Yalcin, Binnaz; Chelly, Jamel; Deleuze, Jean François; Bahi Buisson, Nadia; Francis, Fiona (Nature, 2022-05)
Artículo Novel sodium/Iodide symporter compound heterozygous pathogenic variants causing dyshormonogenic congenital hypothyroidism

Martín, Mariano ; Bernal Barquero, Carlos Eduardo; Geysels, Romina Celeste; Papendieck, Patricia; Peyret, Victoria ; Masini-Repiso, Ana María; Chiesa, Ana Elena ; Nicola, Juan Pablo (Mary Ann Liebert, 2019-07)
Artículo Novel variant Ph translocation t(9;22;11)(q34;q11.2;p15)inv(9)(p13q34) in chronic myeloid leukemia involving a one-step mechanism

Belli, C.; Alú, M.F.; Alfonso, G.; Bianchini, Michele ; Larripa, I. (Karger, 2011-01)
Artículo Novel variants in outer protein surface of flavin-containing monooxygenase 3 found in an Argentinian case with impaired capacity for trimethylamine N-oxygenation

Dionisio, Leonardo Raul ; Shimizu, Makiko; Stupniki, Sofia ; Oyama, Saki; Aztiria, Eugenio Manuel ; Alda, Maximiliano; Yamazaki, Hiroshi; Spitzmaul, Guillermo Federico (Elsevier, 2020-05-05)
Artículo Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

Giugliani, Roberto; Castillo Taucher, Silvia; Hafez, Sylvia; Oliveira, Joao Bosco; Rico-Restrepo, Mariana; Rozenfeld, Paula Adriana ; Zarante, Ignacio; Gonzaga Jauregui, Claudia (Frontiers Media, 2022-02)
Artículo p.L571P in the linker domain of rat thyroglobulin causes intracellular retention

Citterio, Cintia Eliana ; Siffo, Sofía ; Moya, Christian M.; Gomes Pio, Mauricio ; Molina, Maricel Fernanda ; Scheps, Karen ; Arvan, Peter; Rey, Osvaldo ; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Elsevier Ireland, 2020-04-05)
Artículo p.R209H GH1 variant challenges short stature assessment

Sanguineti, Nora María ; Braslavsky, Debora Giselle ; Scaglia, Paula Alejandra ; Keselman, Ana Claudia; Ballerini, Maria Gabriela; Ropelato, Maria Gabriela ; Suco, Sofía; Vishnopolska, Sebastián Alexis ; Berenstein, Ariel José ; Jasper, Hector Guillermo ; Domene, Horacio Mario ; Rey, Rodolfo Alberto ; Pérez Millán, Maria I.; Camper, Sally; Bergadá, Ignacio (Churchill Livingstone, 2020-02)
Artículo Parkinson’s Disease in a Patient with 22q11.2 Deletion Syndrome: The Relevance of Detecting Mosaicisms by Means of Cell-By-Cell Evaluation Techniques

Perandones, Claudia; Farini, Veronica Lujan ; Pellene, L. A; Sáenz Farret, Michel; Cuevas, S. M; Micheli, Federico; Radrizzani Helguera, Martin (OMICS, 2015-12)
Artículo Pathogenesis of Fabry nephropathy: The pathways leading to fibrosis

Rozenfeld, Paula Adriana ; Bolla, María de los Ángeles; Quieto, Pedro; Pisani, Antonio; Feriozzi, Sandro; Neuman, Pablo; Bondar, Constanza María (Academic Press Inc Elsevier Science, 2020-02)
Evento Pathogenicity prediction for novel genetic variants related to hearing loss in a cohort of patients from Argentina

Buonfiglio, Paula Inés ; Bruque, Carlos David ; Lotersztein, Vanesa; Menazzi, Sebastián; Francipane, Liliana; Paoli, Bibiana Patricia; Elgoyhen, Ana Belen ; Dalamon, Viviana Karina (Nature Publishing Group, 2022)
Artículo Pathology and pathogenic pathways in fabry nephropathy

Feriozzi, Sandro; Rozenfeld, Paula Adriana (Springer, 2021-03)
Artículo Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

Dardis, A.; Michelakakis, H.; Rozenfeld, Paula Adriana ; Fumic, K.; Wagner, J.; Pavan, E.; Fuller, M.; Revel Vilk, S.; Hughes, D.; Cox, T.; Aerts, J. (BioMed Central, 2022-10)
Artículo Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations

Pardo, Viviane; Rubio, Ileana G.S.; Knobel, Meyer; Aguiar-Oliveira, Manoel H.; Santos, Marcos M.; Gomes, Simone A.; Oliveira, Carla R.P.; Targovnik, Hector Manuel ; Medeiros Neto, Geraldo (Mary Ann Liebert, 2008-07)
Artículo PNPLA3 I148M variant is associated with metabolic stress-response phenotype in patients with nonalcoholic fatty liver disease

Sookoian, Silvia Cristina ; Castaño, Gustavo Osvaldo; Pirola, Carlos José (Wiley, 2015-05)
Artículo PNPLA3, the triacylglycerol synthesis/hydrolysis/storage dilemma, and nonalcoholic fatty liver disease

Sookoian, Silvia Cristina ; Pirola, Carlos José (W J G Press, 2012-11)
Artículo Polymorphisms in TNF and IFNG are associated with clinical characteristics of aplastic anemia in Argentinean population

Bestach, Yesica Soledad ; Sieza, Yamila; Attie, Myriam; Riccheri, Cecilia; Verri, Verónica; Bolesina, Moira; Bengió, Raquel; Larripa, Irene Beatriz ; Belli, Carolina Bárbara (Taylor & Francis Ltd, 2015-06-24)

Mostrando ítems 221-240 de 311