Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.

Autor: Martin Stofanko, Higgor Gonçalves-Dornelas, Pricila Silva Cunha, Heloísa B Pena, Angela M Vianna-Morgante, Sérgio Danilo Junho Pena

Publikováno v: PLoS ONE, Vol 8, Iss 4, p e61328 (2013)

Because of economic limitations, the cost-effective diagnosis of patients affected with rare microdeletion or microduplication syndromes is a challenge in developing countries. Here we report a sensitive, rapid, and affordable detection method that w

Externí odkaz: https://doaj.org/article/68f0dc05964b4d539bd250ea64712ae0

Bancos de Perfis Genéticos Criminais no Brasil: Histórico e Evolução

Autor: Sordaini Maria Caligiorn, Adriana de Lourdes da Silva, Higgor Gonçalves Dornelas, Pablo Marinho

Publikováno v: Brazilian Journal of Forensic Sciences, Medical Law and Bioethics, Vol 9, Iss 4 (2020)

A impunidade tem despontado como um dos principais motivos do aumento da criminalidade no Brasil, principalmente devido à dificuldade dos processos investigativos em apontar a autoria de delitos. A indisponibilidade e a falta de transparência de da

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b1717ba04710e48040d53196fe8216a
https://doi.org/10.17063/bjfs9(4)y2020499-520

Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR

Autor: Lisa G. Shaffer, Heloísa B. Pena, Martin Stofanko, Higgor Gonçalves-Dornelas, Pricila da Silva Cunha, Sérgio Danilo Junho Pena, Célia Priszkulnik Koiffmann, Carla S. D'Angelo, Jill A. Rosenfeld

Publikováno v: Disease Markers
Disease Markers, Vol 2014 (2014)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Monosomy 1p36 is considered the most common subtelomeric deletion syndrome in humans and it accounts for 0.5–0.7% of all the cases of idiopathic intellectual disability. The molecular diagnosis is often made by microarray-based comparative genomic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::443a20ea7ba730c7e47cf96c3c850a76
https://doi.org/10.1155/2014/836082

The Loxtox protein family in Loxosceles intermedia (Mello-Leitão) venom

Autor: F. G. Silvestre, Silvio Sanches Veiga, F. V. Laborne, J. de Moura, Maria Chatzaki, Katia C. Barbaro, Claude Granier, Carlos Chávez-Olórtegui, C. S. de Castro, Higgor Gonçalves-Dornelas, Evanguedes Kalapothakis

Publikováno v: Toxicon. 50:938-946

We isolated cDNA sequences coding for dermonecrotic/sphingomyelinases factor proteins from the brown spider Loxosceles intermedia, here named Loxtox proteins. The amino acid sequences based on cloned cDNA of several Loxtox proteins revealed at least

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8243e3750967e77f5fd1344b1b7e61aa
https://doi.org/10.1016/j.toxicon.2007.07.001

Identification of Polynesian mtDNA haplogroups in remains of Botocudo Amerindians from Brazil

Autor: Hilton P. Silva, Claudia Rodrigues-Carvalho, Toomas Kivisild, Vanessa F. Gonçalves, Paula F. Campos, Morten Arendt Rasmussen, Andersen Liryo, Eske Willerslev, Higgor Gonçalves-Dornelas, Anna-Sapfo Malaspinas, Sérgio Danilo Junho Pena, Jesper Stenderup

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America

There is a consensus that modern humans arrived in the Americas 15,000–20,000 y ago during the Late Pleistocene, most probably from northeast Asia through Beringia. However, there is still debate about the time of entry and number of migratory wave

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e60bc260803bf4f93f1a87124b80da4b
https://pubmed.ncbi.nlm.nih.gov/23576724