Publications by authors named "Maria Obregon"

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CAECENET: An automatic system processing photometer and ceilometer data from different networks to provide columnar and vertically-resolved aerosol properties.
Celia Herrero Del Barrio, Roberto Román, Ramiro González, Alberto Cazorla, Marcos Herreras-Giralda

PLoS One· December 2024

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Descriptive analysis of occupational accidents in Spain and their relationship with heatwaves.
Ana Santurtún, Sara Lopes Moraes, Pablo Fdez-Arroyabe, María Obregón, Ricardo Almendra

Prev Med· October 2023

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Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient.
Mariana Del Pino, Victoria Huckstadt, Francisca Diaz-Gonzalez, Maria Gabriela Obregon, Karen E Heath

Am J Med Genet A· August 2023

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DGAT1 mutation in two sisters with failure to thrive: a case report.
M Agustina Valentini, Valeria A Fedrizzi, Andrea G Krochik, Silvina Abbate, Mariela Ferrari

Arch Argent Pediatr· February 2023

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Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.
Silvia Caino, Marisa Angelica Cubilla, Romina Alba, María Gabriela Obregón, Virginia Fano

Genes (Basel)· November 2022

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Challenges in genetic diagnosis, co-occurrence of 22q11.2 deletion syndrome and Noonan syndrome.
Josefina Chinton, Victoria Huckstadt, Maria Eugenia Foncuberta, Maria Mercedes Perez, Mara Cecilia Bonetto, María Gabriela Obregon

Am J Med Genet A· August 2022

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Osteochondromatosis: clinical variability and factors related to quality of life in children and adults.
Silvia Caino, Romina Alba, Silvina Bevilacqua, Mariana Roizen, María G Obregón

Arch Argent Pediatr· June 2022

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Metformin reduces macrophage HIF1α-dependent proinflammatory signaling to restore brown adipocyte function in vitro.
Nuria Pescador, Vera Francisco, Patricia Vázquez, Eva María Esquinas, Cristina González-Páramos

Redox Biol· December 2021

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Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.
Roxana Marino, Natalia Perez Garrido, Pablo Ramirez, Guillermo Notaristéfano, Angélica Moresco

J Clin Endocrinol Metab· June 2021

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Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients.
Mariana Amina Loos, Gimena Gomez, Lía Mayorga, Roberto Horacio Caraballo, Hernán Diego Eiroa, María Gabriela Obregon

Mol Genet Metab Rep· June 2021

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TGF-β1 mediates cell proliferation and development of hepatocarcinogenesis by downregulating deiodinase 1 expression.
Ezequiel Ridruejo, Giselle Romero Caimi, Noelia Miret, María Jesús Obregón, Andrea Randi

Medicina (B Aires)· June 2021

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Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.
Victoria Huckstadt, Josefina Chinton, Abel Gomez, María Gabriela Obregon, Luis Pablo Gravina

Am J Med Genet A· April 2021

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Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Marcela D Mena, Angélica A Moresco, Sofía H Vidal, Diana Aguilar-Cortes, María G Obregon

Front Genet· March 2021

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Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome.
Boris Rebolledo-Jaramillo, Maria Gabriela Obregon, Victoria Huckstadt, Abel Gomez, Gabriela M Repetto

Genes (Basel)· January 2021

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Rubinstein-Taybi syndrome in diverse populations.
Cedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, Yonit A Addissie, Bryan Malonga, María Gabriela Obregon

Am J Med Genet A· December 2020

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Moderate SIRT1 overexpression protects against brown adipose tissue inflammation.
Carmen Escalona-Garrido, Patricia Vázquez, Paula Mera, Sebastián Zagmutt, Ester García-Casarrubios, Maria Jesus Obregon

Mol Metab· December 2020

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Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
Fanny Kortüm, Marcello Niceta, Monia Magliozzi, Katja Dumic Kubat, Stephen P Robertson, Maria Gabriela Obregon

Eur J Med Genet· September 2020

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NOD1 deficiency promotes an imbalance of thyroid hormones and microbiota homeostasis in mice fed high fat diet.
Silvia González-Ramos, Marta Paz-García, Victoria Fernández-García, Kevin J Portune, Emilio F Acosta-Medina, Maria Jesus Obregon

Sci Rep· July 2020

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Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation.
Rosario Ramos Mejía, Miriam Aza-Carmona, Mariana Del Pino, Karen E Heath, Virginia Fano, Maria Gabriela Obregon

J Pediatr Genet· March 2020

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Providing more evidence on LZTR1 variants in Noonan syndrome patients.
Josefina Chinton, Victoria Huckstadt, Mafalda Mucciolo, Francesca Lepri, Antonio Novelli, María Gabriela Obregon

Am J Med Genet A· February 2020

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Turner syndrome in diverse populations.
Paul Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, Kelly L Jones, Sarah K Savage, María Gabriela Obregon

Am J Med Genet A· February 2020

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SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation.
Mariana Del Pino, Miriam Aza-Carmona, David Medino-Martín, Abel Gomez, Karen E Heath, María Gabriela Obregon

J Pediatr Genet· September 2019

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Long-term caloric restriction ameliorates deleterious effects of aging on white and brown adipose tissue plasticity.
Patricia Corrales, Yurena Vivas, Adriana Izquierdo-Lahuerta, Daniel Horrillo, Patricia Seoane-Collazo, Maria Jesus Obregon

Aging Cell· June 2019

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Potential Molecular Targets of Statins in the Prevention of Hepatocarcinogenesis.
Ezequiel Ridruejo, Giselle Romero-Caími, María J Obregón, Diana Kleiman de Pisarev, Laura Alvarez

Ann Hepatol· May 2019

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Pleiotrophin deletion alters glucose homeostasis, energy metabolism and brown fat thermogenic function in mice.
Julio Sevillano, María Gracia Sánchez-Alonso, Begoña Zapatería, María Calderón, Martín Alcalá

Diabetologia· January 2019

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