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Villela, Darine
42  results:
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1

MTHFR genetic testing: is there a clinical utility?:

Planello, Aline Cristiane ; Villela, Darine ; Loureiro, Thereza
Revista da Associação Médica Brasileira.  70 (2024)  6 - p. , 2024
Link: https://doi.org/10.1590/..
 
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2

Low‐pass whole genome sequencing as a cost‐effective altern..:

Mazzonetto, Patricia C. ; Villela, Darine ; Krepischi, Ana C. V....
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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3

Whole genome sequencing as a first‐tier diagnostic test for..:

Migliavacca, Michele P. ; Sobreira, Joselito ; Bermeo, Diana...
American Journal of Medical Genetics Part A.  194 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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4

Childhood-onset writer's cramp and cerebellar ataxia: A neu..:

Tonholo Silva, Thiago Yoshinaga ; Villela, Darine ; Cavalcanti, Thereza Taylanne Souza Loureiro...
Parkinsonism & Related Disorders.  123 (2024)  - p. 105947 , 2024
Link: https://doi.org/10.1016/..
 
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5

Germline variant analysis from a cohort of patients with se..:

Mendes, Camila ; Loureiro, Thereza ; Villela, Darine...
Molecular Genetics and Metabolism Reports.  40 (2024)  - p. 101100 , 2024
Link: https://doi.org/10.1016/..
 
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6

A Brazilian case of IFAP syndrome with severe congenital ic..:

Migliavacca, Michele Patricia ; Fock, Rodrigo Ambrosio ; Almeida, Nadia...
Revista Paulista de Pediatria.  41 (2023)  - p. , 2023
Link: https://doi.org/10.1590/..
 
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7

A Benchmark of In-House Homologous Recombination Repair Def..:

Guarischi-Sousa, Rodrigo ; Kroll, José Eduardo ; Bonaldi, Adriano...
Diagnostics.  13 (2023)  21 - p. 3293 , 2023
Link: https://doi.org/10.3390/..
 
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8

Low‐pass whole genome sequencing is a reliable and cost‐eff..:

Mazzonetto, Patricia C. ; Villela, Darine ; da Costa, Silvia Souza...
Annals of Human Genetics.  88 (2023)  2 - p. 113-125 , 2023
Link: https://doi.org/10.1111/..
 
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9

BRCA1 and BRCA2 germline mutation analysis from a cohort of..:

Mazzonetto, Patricia ; Milanezi, Fernanda ; D'Andrea, Mariana...
Breast Cancer Research and Treatment.  199 (2023)  1 - p. 127-136 , 2023
Link: https://doi.org/10.1007/..
 
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10

Genetic investigation of syndromic forms of obesity:

Carvalho, Laura Machado Lara ; D'Angelo, Carla Sustek ; Villela, Darine...
International Journal of Obesity.  46 (2022)  9 - p. 1582-1586 , 2022
Link: https://doi.org/10.1038/..
 
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11

Chromosomal microarray analyses from 5778 patients with neu..:

Krepischi, Ana C. V. ; Villela, Darine ; da Costa, Silvia Souza...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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12

Congenital chromoanagenesis in the routine postnatal chromo..:

Villela, Darine ; Mazzonetto, Patricia C. ; Migliavacca, Michele P....
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2335-2344 , 2021
Link: https://doi.org/10.1002/..
 
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13

Detection of mosaicism for segmental and whole chromosome i..:

Villela, Darine ; de Barros, Juliana Sobral ; da Costa, Silvia Souza...
Annals of Human Genetics.  85 (2020)  1 - p. 18-26 , 2020
Link: https://doi.org/10.1111/..
 
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14

Breast Cancer Detection and Treatment Monitoring Using a No..:

Lenaerts, Liesbeth ; Che, Huiwen ; Brison, Nathalie...
Clinical Chemistry.  66 (2020)  11 - p. 1414-1423 , 2020
Link: https://doi.org/10.1093/..
 
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15

Noninvasive prenatal diagnosis by genome-wide haplotyping o..:

Che, Huiwen ; Villela, Darine ; Dimitriadou, Eftychia...
Genetics in Medicine.  22 (2020)  5 - p. 962-973 , 2020
Link: https://doi.org/10.1038/..
 
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