Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.

Autor: Sergio I Nemirovsky, Marta Córdoba, Jonathan J Zaiat, Sabrina P Completa, Patricia A Vega, Dolores González-Morón, Nancy M Medina, Mónica Fabbro, Soledad Romero, Bianca Brun, Santiago Revale, María Florencia Ogara, Adali Pecci, Marcelo Marti, Martin Vazquez, Adrián Turjanski, Marcelo A Kauffman

Publikováno v: PLoS ONE, Vol 10, Iss 2, p e0116358 (2015)

Clinical genomics promise to be especially suitable for the study of etiologically heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three siblings with ASD where we evaluated the usefulness of Whole Genome Sequencing (

Externí odkaz: https://doaj.org/article/2a5d28e82d2f4c298924f9305dbc1fc3

PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina

Autor: Ariana Gonzalez, Franco Del Greco, Laura Vargas-Roig, Bianca Brun, Gonzalo Tabares, Alejandra Mampel, Cecilia Montes, Claudia Martin, Marcela Lopez, Norma Rossi, Luisina Bruno, Carolina Ponce, Patricia Quaglio, Alvaro Yanzi, Santiago Acevedo, Lilia Lugo, Paula Lopez Breccia, Silvia Avila, Silvina Sisterna, María Soledad Del Castillo, Martín Vazquez, Lina M. Nuñez

Publikováno v: Breast Cancer Research and Treatment. 194:403-412

PALB2 variants have been scarcely described in Argentinian and Latin-American reports. In this study, we describe molecular and clinical characteristics of PALB2 mutations found in multi-gene panels (MP) from breast-ovarian cancer (BOC) families in d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44f957ed97e8295ba1413eb3c4df1dae
https://doi.org/10.1007/s10549-022-06620-5

Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients

Autor: Fabian Fay, Melina Klurfan, Cristian Oscar Rohr, Martin P. Vazquez, Fernanda Madeira, Guadalupe Mejico, Maria Florencia Gosso, Bianca Brun

Publikováno v: Human Genome Variation, Vol 5, Iss 1, Pp 1-5 (2018)
Human Genome Variation

Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset. The syndrome is often confused with other Angelman-like syndromes (ALS) during infancy, but i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d72782f4ab7d73814fbeac672e83721
http://link.springer.com/article/10.1038/s41439-018-0021-y

Human Microbiota of the Argentine Population- A Pilot Study

Autor: Mariela Sciara, Martin P. Vazquez, Santiago Revale, Monica Fabbro, Fabian Fay, M Fay, Bianca Brun, Belén Carbonetto, Guadalupe Mejico, Marı́a S Callén Romero, Analia Seravalle

Publikováno v: Frontiers in Microbiology
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Frontiers in Microbiology, Vol 7 (2016)

The human microbiota is the collection of microorganisms living in or on the human body. An imbalance or dysbiosis in these microbial communities can be associated with a wide variety of human diseases (Petersen and Round, 2014; Pham and Lawley, 2014

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::798011a50828bcd4b2ceca13cc01bcb9
https://pubmed.ncbi.nlm.nih.gov/26870014

Transcriptomic Profiling during the Post-Harvest of Heat-Treated Dixiland Prunus persica Fruits: Common and Distinct Response to Heat and Cold

Autor: María V. Lara, Martin Alexander Lauxmann, Claudia A. Bustamante, Claudio Olaf Budde, María F. Drincovich, Bianca Brun, Julia Borsani

Publikováno v: PLoS ONE
PLoS ONE, Vol 7, Iss 12, p e51052 (2012)
PLoS ONE 7 (12) : e51052 (December 2012)
INTA Digital (INTA)
Instituto Nacional de Tecnología Agropecuaria
instacron:INTA

Cold storage is extensively used to slow the rapid deterioration of peach (Prunus persica L. Batsch) fruit after harvest. However, peach fruit subjected to long periods of cold storage develop chilling injury (CI) symptoms. Post-harvest heat treatmen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47f7697a4c51ac7cc8ef0057a97b60f4
http://europepmc.org/articles/PMC3516522