GOMES PIO, MAURICIO; ADROVER, EZEQUIELA; MIRAS, MIRTA B.; SOBRERO, GABRIELA; MOLINA, MARICEL F.; SCHEPS, KAREN G.; RIVOLTA, CARINA M.; TARGOVNIK, HÉCTOR M.

The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Año: 2023 vol. 572

SCHEPS, KAREN G.; SALIM, JUAN PABLO; VARELA, VIVIANA; BASACK, NORA; GARCÍA, ELIANA; CRISP, RENÉE; CHIAPPE, GUSTAVO; DE PAULA, SILVIA; WATMAN, NORA; ZERDIEW, ANA; TARGOVNIK, HÉCTOR M.

Genetic bases and modifiers of β-thalassemia in Argentina

Human Gene; Año: 2022 vol. 33

MOLINA, MARICEL F.; PIO, MAURICIO GOMES; SCHEPS, KAREN G.; ADROVER, EZEQUIELA; ABELLEYRO, MIGUEL M.; TARGOVNIK, HÉCTOR M.; RIVOLTA, CARINA M.

Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Año: 2022

PIO, MAURICIO GOMES; SIFFO, SOFIA; SCHEPS, KAREN G.; MOLINA, MARICEL F.; ADROVER, EZEQUIELA; ABELLEYRO, MIGUEL M.; RIVOLTA, CARINA M.; TARGOVNIK, HÉCTOR M.

Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Año: 2021 vol. 534

CITTERIO, CINTIA E.; SIFFO, SOFIA; MOYA, CHRISTIAN M.; PIO, MAURICIO GOMES; MOLINA, MARICEL F.; SCHEPS, KAREN G.; REY, OSVALDO A.; ARVAN, PETER; RIVOLTA, CARINA M.; TARGOVNIK, HÉCTOR M.

p.L571P in the linker domain of rat thyroglobulin causes intracellular retention

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Año: 2020 vol. 505

SCHEPS, KAREN G.; HASENAHUER, MARCIA A.; PARISI, GUSTAVO; TARGOVNIK, HÉCTOR M.; FORNASARI, MARÍA S.

Curating the gnomAD database: Report of novel variants in the globin‐coding genes and bioinformatics analysis

HUMAN MUTATION; Año: 2019

CARINA M. RIVOLTA; KAREN G. SCHEPS; HÉCTOR M. TARGOVNIK

Defects in protein folding in congenital hypothyroidism

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 2019

KAREN G. SCHEPS; CAROLINA MEYER; YESICA BESTACH; ALICIA ENRICO; RAQUEL BENGIÓ; MARIANA RODRÍGUEZ-ZUBIETA; MARÍA MARTA RIVAS; CARLOS DE BRASI; IRENE LARRIPA

Identification of driver and sub-clonal mutations in ASXL1 and IDH1/IDH2 genes in an Argentine series of patients with myelofibrosis

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY; Lugar: Londres; Año: 2018

SCHEPS, KAREN GABRIELA; HASENAHUER, MARCIA ANAHÍ; PARISI, GUSTAVO; TARGOVNIK, HÉCTOR M.; GARCÍA, ELIANA; VEBER, ERNESTO SAMUEL; CRISP, RENÉE; ELENA, GRACIELA; VARELA, VIVIANA; FORNASARI, MARÍA SILVINA

Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain

EUROPEAN JOURNAL OF HAEMATOLOGY; Año: 2018

KAREN G. SCHEPS; VIVIANA VARELA; HÉCTOR M. TARGOVNIK

The Chaperones Involved in Hemoglobin Synthesis Take the Spotlight: Analysis of AHSP in the Argentinean Population and Review of the Literature.

HEMOGLOBIN; Lugar: Londres; Año: 2018 vol. 42 p. 310 - 314

KAREN G. SCHEPS; PROF. DR. VARELA, VIVIANA

Bases moleculares de hemoglobinopatías en Argentina

ACTA BIOQUíMICA CLíNICA LATINOAMERICANA; Lugar: La Plata; Año: 2017 vol. 51 p. 333 - 342

KAREN G. SCHEPS; LILIANA FRANCIPANE; JULIÁN NEVADO; FELISA NORA BASACK; MYRIAM ATTIE; MARÍA FERNANDA BERGONZI; GLORIA E. CERRONE; PABLO LAPUNZINA; VIVIANA VARELA

Multiple Copy Number Variants in a pediatric patient with Hb H disease and intellectual disability

American Journal of Medical Genetics Part A; Año: 2016

KAREN G. SCHEPS; FRANCIPANE LILIANA; JULIÁN NEVADO; NORA BASACK; MYRIAM ATTIE; MARÍA FERNANDA BERGONZI; GLORIA E. CERRONE; PABLO LAPUNZINA; VIVIANA VARELA

Multiple Copy Number Variants in a pediatric patient with Hb H disease and intellectual disability, Journal Cover

American Journal of Medical Genetics Part A; Año: 2016 vol. 170 p. 1 - 1

KAREN G. SCHEPS; VIVIANA VARELA

REGULACIÓN DE LA EXPRESIÓN DE LOS GENES DE LA FAMILIA DE β-GLOBINA HUMANA, ÚTIL EN LA BÚSQUEDA DE NUEVOS BLANCOS TERAPÉUTICOS PARA TRATAMIENTO DE HEMOGLOBINOPATÍAS

MEDICINA (BUENOS AIRES); Lugar: Buenos Aires; Año: 2016 vol. 76 p. 383 - 389

KAREN GABRIELA SCHEPS; MARCIA ANAHÍ HASENAHUER; GUSTAVO PARISI; MARÍA SILVINA FORNASARI; SANDRA PATRICIA PENNESI; BEATRIZ ERRAMOUSPE; FELISA NORA BASACK; ERNESTO SAMUEL VEBER; LUIS AVERSA; GRACIELA ELENA ; VIVIANA VARELA

Hb Wilde and Hb Patagonia: two novel elongated beta-globin variants causing dominant beta-thalassaemia

EUROPEAN JOURNAL OF HAEMATOLOGY; Año: 2015 vol. 94 p. 498 - 503

KAREN GABRIELA SCHEPS; LILIANA FRANCIPANE; ABIGAIL NASH; GLORIA EDITH CERRONE; SILVIA BEATRIZ COPELLI; VIVIANA VARELA

Bases Moleculares de Alfa-Talasemia en Argentina

MEDICINA (BUENOS AIRES); Lugar: Buenos Aires; Año: 2015 vol. 75 p. 81 - 86

KAREN G. SCHEPS; SILVIA M. DE PAULA; ALICIA R. BITSMAN; DANIEL H. FREIGEIRO; F. NORA BASACK; SANDRA P. PENNESI; VIVIANA VARELA

Co-Inheritance of a Novel Mutation in the HBA1 Gene:c.187delG (p.W62fsX66) (Alpha 1 62(-G)) with the α212 Patchwork allele and Hb S

HEMOGLOBIN; Lugar: Londres; Año: 2013 vol. 37 p. 492 - 500

KAREN G. SCHEPS; AMANDA BINAGHI; VIVIANA VARELA

IDENTIFICATION OF A NEW HBA1 GENE MUTATION (HBA1:c.301-2A>T) IN CIS WITH Hb RICCARTON (HBA1:c.154G>A) [α51(CE9)Gly→Ser]

HEMOGLOBIN; Año: 2012 vol. 36 p. 504 - 507

LILIANA C. ROSSETTI, KAREN G. SCHEPS, AMANDA BINAGHI, MARÍA S. ABREU, MARIANA MANSILLA, VIVIANA VARELA.

DIAGNÓSTICO MOLECULAR DE MUTACIONES BETA TALASÉMICAS, GENOTIPOS COMPLEJOS.

Hematología Argentina; Lugar: CABA; Año: 2010 vol. 14