Personal information

Other IDs

ResearcherID: A-8831-2014

Activities

Collapse all

Works (14)

MTHFR genetic testing: is there a clinical utility?

Revista da Associação Médica Brasileira
2024 | Journal article
DOI: 10.1590/1806-9282.20240215
Contributors: Aline Cristiane Planello; Darine Villela; Thereza Loureiro
Source: check_circle
Crossref

Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries

American Journal of Medical Genetics Part A
2024-11 | Journal article
DOI: 10.1002/ajmg.a.63802
Contributors: Patricia C. Mazzonetto; Darine Villela; Ana C. V. Krepischi; Paulo M. Pierry; Adriano Bonaldi; Luiz Gustavo D. Almeida; Marcelo G. Paula; Matheus Carvalho Bürger; Ana Gabriela de Oliveira; Gustavo G. G. Fonseca et al.
Source: check_circle
Crossref

Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting

Annals of Human Genetics
2024-03 | Journal article
DOI: 10.1111/ahg.12532
Contributors: Patricia C. Mazzonetto; Darine Villela; Silvia Souza da Costa; Ana C. V. Krepischi; Fernanda Milanezi; Michele P. Migliavacca; Paulo M. Pierry; Adriano Bonaldi; Luiz Gustavo D. Almeida; Camila Alves De Souza et al.
Source: check_circle
Crossref

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2

Revista Paulista de Pediatria
2023 | Journal article
DOI: 10.1590/1984-0462/2023/41/2022057
Contributors: Michele Patricia Migliavacca; Rodrigo Ambrosio Fock; Nadia Almeida; Thereza Cavalcanti; Darine Villela; Ana Beatriz Alvarez Perez; David Valle; Elizabeth Wohler; Nara Lygia de Macena Sobreira; Salmo Raskin
Source: check_circle
Crossref

HRD-One: CLINICAL VALIDATION AND PERFORMANCE ASSESSMENT. Comparison between Myriad’s myChoice®, SOPHiA GENETICS® SOPHiA Homologous Recombination Solution and AmoyDx® HRD Focus Panel

2023-03-29 | Preprint
DOI: 10.1101/2023.03.28.21264560
Contributors: Rodrigo Guarischi-Sousa; José Eduardo Kroll; Adriano Bonaldi; Paulo Marques Pierry; Luiz Gustavo de Almeida; Camila Alves Souza; Juliana Santos Silva; Darine Villela; Fabiana Marcelino Meliso; Maria Fernanda Grillo Milanezi et al.
Source: check_circle
Crossref

BRCA1 and BRCA2 germline mutation analysis from a cohort of 1,267 high-risk breast cancer patients in Brazil

2022-08-30 | Preprint
DOI: 10.21203/rs.3.rs-1942605/v1
Contributors: Darine Villela; Patricia Mazzonetto; Fernanda Milanezi; Mariana Andrea; Sylvia Martins; Priscilla M. Monfredini; Juliana dos Santos Silva; Eduardo Perrone; Beatriz Schnabel; Viviane Nakano et al.
Source: check_circle
Crossref

Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses

American Journal of Medical Genetics Part A
2021-08 | Journal article
DOI: 10.1002/ajmg.a.62237
Contributors: Darine Villela; Patricia C. Mazzonetto; Michele P. Migliavacca; Eduardo Perrone; Gustavo Guida; Maria Fernanda G. Milanezi; Alexander A. L. Jorge; Lucilene A. Ribeiro‐Bicudo; Fernando Kok; Francine Campagnari et al.
Source: check_circle
Crossref

Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing

Annals of Human Genetics
2021-01 | Journal article
DOI: 10.1111/ahg.12402
Contributors: Darine Villela; Juliana Sobral de Barros; Silvia Souza da Costa; Talita F. M. Aguiar; Francine Campagnari; Angela M. Vianna‐Morgante; Ana C. V. Krepischi; Carla Rosenberg
Source: check_circle
Crossref

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

Genetics in Medicine
2019-12-14 | Journal article
DOI: 10.1038/s41436-019-0564-4
Contributors: Nathalie Brison; Jazz Storms; Darine Villela; Kristl G. Claeys; Luc Dehaspe; Thomy de Ravel; Liesbeth De Waele; Nathalie Goemans; Eric Legius; Hilde Peeters et al.
Source: check_circle
Crossref

Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain

Neural Plasticity
2018-06-28 | Journal article
DOI: 10.1155/2018/2406170
Contributors: Darine Villela; Claudia K. Suemoto; Renata Leite; Carlos Augusto Pasqualucci; Lea T. Grinberg; Peter Pearson; Carla Rosenberg
Source: check_circle
Crossref

Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene

2013 | Journal article
DOI:

10.1590/s1415-47572013000400006

Part of ISSN:

1415-4757
Source: Self-asserted source
Darine Villela via Crossref Metadata Search

Modulation of Pineal Melatonin Synthesis by Glutamate Involves Paracrine Interactions between Pinealocytes and Astrocytes through NF-B Activation

2013 | Journal article
DOI:

10.1155/2013/618432

Part of ISSN:

2314-6133
Source: Self-asserted source
Darine Villela via Crossref Metadata Search

Norepinephrine activates NF-κB transcription factor in cultured rat pineal gland

2013 | Journal article
DOI:

10.1016/j.lfs.2013.11.004

Part of ISSN:

0024-3205
Source: Self-asserted source
Darine Villela via Crossref Metadata Search

Melatonin and pineal gland

New research on neurosecretory systems
2008 | Book chapter
Source: Self-asserted source
Darine Villela
How many people are using ORCID?