Pinto J - Search Results

1

Impact of copy number variants in epilepsy plus neurodevelopment disorders.

João S, Quental R, Pinto J, Almeida C, Santos H, Dória S. João S, et al. Among authors: pinto j. Seizure. 2024 Apr;117:6-12. doi: 10.1016/j.seizure.2024.01.009. Epub 2024 Jan 19. Seizure. 2024. PMID: 38277927 Free article.

2

Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study.

Sousa B, Grangeia A, Pinto J, Santos H, Dória S. Sousa B, et al. Among authors: pinto j. Porto Biomed J. 2023 Feb 7;8(1):e198. doi: 10.1097/j.pbj.0000000000000198. eCollection 2023 Jan-Feb. Porto Biomed J. 2023. PMID: 37213247 Free PMC article.

3

Identification of Copy Number Variation by Array-CGH in Portuguese Children and Adolescents Diagnosed with Autism Spectrum Disorders.

Monteiro S, Pinto J, Mira Coelho A, Leão M, Dória S. Monteiro S, et al. Among authors: pinto j. Neuropediatrics. 2019 Dec;50(6):367-377. doi: 10.1055/s-0039-1694797. Epub 2019 Aug 9. Neuropediatrics. 2019. PMID: 31398764

4

Clinical Findings on Chromosome 1 Copy Number Variations.

Leitão F, Grangeia A, Pinto J, Passas A, Dória S. Leitão F, et al. Among authors: pinto j. Neuropediatrics. 2022 Aug;53(4):265-273. doi: 10.1055/s-0042-1754162. Epub 2022 Jul 14. Neuropediatrics. 2022. PMID: 35835157 Free article.

5

Prenatal diagnosis: the clinical usefulness of array comparative genomic hybridization.

Freitas M, Pinto J, Ramalho C, Dória S. Freitas M, et al. Among authors: pinto j. Porto Biomed J. 2018 Jul 3;3(2):e13. doi: 10.1016/j.pbj.0000000000000013. eCollection 2018 Oct. Porto Biomed J. 2018. PMID: 31595243 Free PMC article.

6

12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?

Dória S, Alves D, Pinho MJ, Pinto J, Leão M. Dória S, et al. Among authors: pinto j. BMC Med Genomics. 2020 Jan 3;13(1):2. doi: 10.1186/s12920-019-0653-x. BMC Med Genomics. 2020. PMID: 31900140 Free PMC article.

7

Normal sperm in a 2;2 homologous male translocation carrier.

Almeida C, Dória S, Moreira M, Pinto J, Barros A. Almeida C, et al. Among authors: pinto j. J Assist Reprod Genet. 2012 Jul;29(7):665-8. doi: 10.1007/s10815-012-9770-6. Epub 2012 Apr 27. J Assist Reprod Genet. 2012. PMID: 22538551 Free PMC article.

8

Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature.

Vasconcelos AP, Nogueira A, Matos P, Pinto J, Pinho MJ, Fernandes S, Dória S, Pinto Moura C. Vasconcelos AP, et al. Among authors: pinto j, pinto moura c. Eur J Med Genet. 2023 Oct;66(10):104827. doi: 10.1016/j.ejmg.2023.104827. Epub 2023 Aug 30. Eur J Med Genet. 2023. PMID: 37657632

9

Oral cancer incidence rate is associated with access to dental care: City and statewide analyses.

Scussiatto HO, Kim S, Kolak MA, Nocon CC, Pinto JM, Bhayani MK. Scussiatto HO, et al. Among authors: pinto jm. Head Neck. 2024 May 16. doi: 10.1002/hed.27801. Online ahead of print. Head Neck. 2024. PMID: 38752373

10

Praseodymium and warming interactions in mussels: Comparison between observed and predicted results.

Leite C, Russo T, Cuccaro A, Pinto J, Polese G, Soares AMVM, Pretti C, Pereira E, Freitas R. Leite C, et al. Among authors: pinto j. Sci Total Environ. 2024 Apr 29:172893. doi: 10.1016/j.scitotenv.2024.172893. Online ahead of print. Sci Total Environ. 2024. PMID: 38692321 Free article.

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