Výsledky vyhledávání - "MARTA ARRIAZA"

Akademický článek

A Single-Point Insulin Sensitivity Estimator (SPISE) of 5.4 is a good predictor of both metabolic syndrome and insulin resistance in adolescents with obesity

Autor: Paulina Correa-Burrows, Mariela Matamoros, Valeria de Toro, Diego Zepeda, Marta Arriaza, Raquel Burrows

Publikováno v: Frontiers in Endocrinology, Vol 14 (2023)

BackgroundThe Single-Point Insulin Sensitivity Estimator (SPISE) is a biomarker of insulin sensitivity estimated using BMI and triglycerides and high-density lipoprotein cholesterol. We assessed the accuracy of SPISE to screen obesity-related cardiom

Externí odkaz: https://doaj.org/article/62777b8b25a84e77ae9bd507c878a4e6

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Akademický článek

VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study

Autor: JUAN FRANCISCO CALDERÓN, ALONSO R PUGA, M. LUISA GUZMÁN, CARMEN PAZ ASTETE, MARTA ARRIAZA, MARIANA ARACENA, TERESA ARAVENA, PATRICIA SANZ, GABRIELA M REPETTO

Publikováno v: Biological Research, Vol 42, Iss 4, Pp 461-468 (2009)

Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous. Congenital heart disease is present in 50-80% of patients and is a signif

Externí odkaz: https://doaj.org/article/1434e2b2f32b43bb996772f9d9dc75ef

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Lessons from a 30 year follow‐up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them

Autor: Benjamin Chanes, Yves Lacassie, Marta Arriaza

Publikováno v: American Journal of Medical Genetics Part A. 185:1242-1246

At the 43rd annual meeting of the ASHG in 1993, the senior author reported monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaic syndrome in one of them. Her major manifestations included: intrauterine growth restriction (IU

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a94c2eab9c69cf44bd981f7ab7d15006
https://doi.org/10.1002/ajmg.a.62074

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SÍNDROME DE SENGERS: COMUNICACIÓN DE DOS CASOS EN CHILE

Autor: Nathan Pulido, Julio Rivera, Gustavo Ríos, Miguel Saavedra, Marta Arriaza

Publikováno v: Revista chilena de cardiología v.32 n.3 2013
SciELO Chile
CONICYT Chile
instacron:CONICYT

Resumen: El Sindrome de Sengers es una en-fermedad mitocondrial autosomica recesiva, produ-cida por mutacion del gen de la Acil-Glicerol Kinasa (AGK), recientemente descubierto. Se caracteriza por cataratas congenitas bilaterales, miocardiopatia hipe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::605b135983d145459a811169cd973893
https://doi.org/10.4067/s0718-85602013000300009

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A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects

Autor: Helena, Poggi, Alejandra, Vera, Carolina, Avalos, Marcela, Lagos, Cecilia, Mellado, Mariana, Aracena, Teresa, Aravena, Hernan, Garcia, Claudia, Godoy, Andreina, Cattani, Loreto, Reyes, Patricia, Lacourt, Hana, Rumie, Veronica, Mericq, Marta, Arriaza, Alejandro, Martinez-Aguayo

Publikováno v: Hormone research in paediatrics. 84(4)

Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic short stature.To describe the molecular and clinical findings observed in 23 of 45 non-consangu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::592f42c9258b530c18895fb318ca8ec4
https://pubmed.ncbi.nlm.nih.gov/26337568

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VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study

Autor: Patricia Sanz, Juan F. Calderón, Gabriela M. Repetto, Marta Arriaza, Alonso Puga, M. Luisa Guzman, Carmen Astete, Mariana Aracena, Teresa Aravena

Publikováno v: Biological Research v.42 n.4 2009
SciELO Chile
CONICYT Chile
instacron:CONICYT
Biological Research, Vol 42, Iss 4, Pp 461-468 (2009)
Biological Research, Volume: 42, Issue: 4, Pages: 461-468, Published: 2009
BIOLOGICAL RESEARCH
Artículos CONICYT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c16cd30e68ab3eeb754bc462464c1d7
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400007

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Angioedema y urticaria inducidos por ejercicio

Autor: Marta Arriaza Z., Gustavo Cortés G., María E. Consigliere C., Nathan Pulido S.

Publikováno v: Revista chilena de pediatría, Volume: 69, Issue: 3, Pages: 104-106, Published: MAY 1998
Revista chilena de pediatría v.69 n.3 1998
SciELO Chile
CONICYT Chile
instacron:CONICYT

Dos niñas (13 y 14 años respectivamente) consultaron por síncope asociado a esfuerzos, una de ellas sufría urticaria provocada por el ejercicio y el agua fría y la otra angioedema relacionado con el ejercicio. En ambas el examen físico, electro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ba94702cb5ca27240806f9c683d9150
https://doi.org/10.4067/s0370-41061998000300004

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Akademický článek

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