Works by Spangenberg, Lucía

Results: 18

Filogeografía de mitogenomas indígenas de Uruguay.

Published in:

Revista Argentina de Antropología Biológica, 2022, v. 24, n. 1, p. 1, doi. 10.24215/18536387e042P

By:

Figueiro, Gonzalo;
Mut, Patricia;
Ale, Lucas;
FloresGutiérrez, Sara;
Greif, Gonzalo;
Hidalgo, Pedro C.;
Luna, Silvana Lorena;
Ackermann, Elizabeth;
Negro, Raúl Germán;
Spangenberg, Lucía;
Naya, Hugo;
Sans, Mónica

Publication type:

Article

Testing the existence of an unadmixed ancestor from a specific population t generations ago.

Published in:

PLoS ONE, 2022, v. 17, n. 8, p. 1, doi. 10.1371/journal.pone.0271097

By:

Illanes, Gabriel;
Fariello, María Inés;
Spangenberg, Lucía;
Mordecki, Ernesto;
Naya, Hugo

Publication type:

Article

CBG Montevideo: A Clinically Novel SERPINA6 Mutation Leading to Haploinsufficiency of Corticosteroid-binding Globulin.

Published in:

Journal of the Endocrine Society, 2021, v. 5, n. 9, p. 1, doi. 10.1210/jendso/bvab115

By:

Meyer, Emily Jane;
Spangenberg, Lucía;
Ramírez, Maria José;
Sousa, Sunita Maria Christina De;
Raggio, Victor;
Torpy, David James

Publication type:

Article

Unveiling Polysomal Long Non-Coding RNA Expression on the First Day of Adipogenesis and Osteogenesis in Human Adipose-Derived Stem Cells.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 4, p. 2013, doi. 10.3390/ijms25042013

By:

Bonilauri, Bernardo;
Ribeiro, Annanda Lyra;
Spangenberg, Lucía;
Dallagiovanna, Bruno

Publication type:

Article

Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006237

By:

Spangenberg, María Noel;
Grille, Sofia;
Simoes, Camila;
Dell'Oca, Nicolás;
Boada, Matilde;
Guillermo, Cecilia;
Raggio, Victor;
Spangenberg, Lucía

Publication type:

Article

Indigenous Ancestry and Admixture in the Uruguayan Population.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.733195

By:

Spangenberg, Lucía;
Fariello, María Inés;
Arce, Darío;
Illanes, Gabriel;
Greif, Gonzalo;
Shin, Jong-Yeon;
Yoo, Seong-Keun;
Seo, Jeong-Sun;
Robello, Carlos;
Kim, Changhoon;
Novembre, John;
Sans, Mónica;
Naya, Hugo

Publication type:

Article

G3-OS, un software para estimación de objetivos de selección en ganado de carne.

Published in:

Latin American Archives of Animal Production / Archivos Latinoamericanos de Producción Animal / Arquivos Latino-Americanos de Produção Animal, 2015, v. 23, n. 5, p. 102

By:

Urioste, Jorge I.;
Pravia, María Isabel;
Alvez, Gustavo;
Naya, Hugo;
Spangenberg, Lucía;
Ravagnolo, Olga;
de Lima, Juan Manuel Soares;
Lema, Mario

Publication type:

Article

Evaluation of different approaches for missing data imputation on features associated to genomic data.

Published in:

BioData Mining, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13040-021-00274-7

By:

Petrazzini, Ben Omega;
Naya, Hugo;
Lopez-Bello, Fernando;
Vazquez, Gustavo;
Spangenberg, Lucía

Publication type:

Article

Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia.

Published in:

Diagnostics (2075-4418), 2024, v. 14, n. 3, p. 313, doi. 10.3390/diagnostics14030313

By:

Raggio, Víctor;
Rodríguez, Soledad;
Feder, Sandra;
Gueçaimburú, Rosario;
Spangenberg, Lucía

Publication type:

Article

Role of Alternative Polyadenylation during Adipogenic Differentiation: An <i>In Silico</i> Approach.

Published in:

PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0075578

By:

Spangenberg, Lucía;
Correa, Alejandro;
Dallagiovanna, Bruno;
Naya, Hugo

Publication type:

Article

Reduced Set of Virulence Genes Allows High Accuracy Prediction of Bacterial Pathogenicity in Humans.

Published in:

PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042144

By:

Iraola, Gregorio;
Vazquez, Gustavo;
Spangenberg, Lucía;
Naya, Hugo;
Aziz, Ramy K.

Publication type:

Article

Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.

Published in:

2022

By:

Simoes, Camila;
Graña, Martín;
Rodriguez, Soledad;
Baltar Yanes, Federico;
Tapié, Alejandra;
Dell'Oca, Nicolás;
Naya, Hugo;
Raggio, Víctor;
Spangenberg, Lucía

Publication type:

journal article

Alternative polyadenylation and dynamic 3' UTR length is associated with polysome recruitment throughout the cardiomyogenic differentiation of hESCs.

Published in:

Frontiers in Molecular Biosciences, 2024, p. 1, doi. 10.3389/fmolb.2024.1336336

By:

Hansel-Frose, Aruana F. F.;
Allmer, Jens;
Friedrichs, Marcel;
Geremias dos Santos, Hellen;
Dallagiovanna, Bruno;
Spangenberg, Lucía

Publication type:

Article

HOW DOES EVOLUTIONARY VARIATION IN BASAL METABOLIC RATES ARISE? A STATISTICAL ASSESSMENT AND A MECHANISTIC MODEL.

Published in:

Evolution, 2013, v. 67, n. 5, p. 1463, doi. 10.1111/evo.12042

By:

Naya, Daniel E.;
Spangenberg, Lucía;
Naya, Hugo;
Bozinovic, Francisco

Publication type:

Article

Real-Time Genomic Surveillance for SARS-CoV-2 Variants of Concern, Uruguay.

Published in:

2021

By:

Rego, Natalia;
Costábile, Alicia;
Paz, Mercedes;
Salazar, Cecilia;
Perbolianachis, Paula;
Spangenberg, Lucía;
Ferrés, Ignacio;
Arce, Rodrigo;
Fajardo, Alvaro;
Arleo, Mailen;
Possi, Tania;
Reyes, Natalia;
Bentancor, Ma Noel;
Lizasoain, Andrés;
Benítez, María José;
Bortagaray, Viviana;
Moller, Ana;
Bello, Gonzalo;
Arantes, Ighor;
Brandes, Mariana

Publication type:

journal article

Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report.

Published in:

Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1379254

By:

Baltar, Federico;
Simoes, Camila;
Garagorry, Francisco;
Graña, Martín;
Rodríguez, Soledad;
Haydée Aunchayna, María;
Tapié, Alejandra;
Cerisola, Alfredo;
González, Gabriel;
Naya, Hugo;
Spangenberg, Lucía;
Raggio, Víctor

Publication type:

Article

Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1622

By:

Spangenberg, Lucía;
Guecaimburú, Rosario;
Tapié, Alejandra;
Vivas, Susana;
Rodríguez, Soledad;
Graña, Martín;
Naya, Hugo;
Raggio, Víctor

Publication type:

Article

Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation.

Published in:

Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1248964

By:

Noel Spangenberg, María;
Grille, Sofía;
Simoes, Camila;
Brandes, Mariana;
Garcia-Luna, Joaquín;
Inés Catalán, Ana;
Ranero, Sabrina;
Boada, Matilde;
Brugnini, Andreína;
Trias, Natalia;
Lens, Daniela;
Raggio, Víctor;
Spangenberg, Lucía

Publication type:

Article