Rapid detection of aneuploidies in prenatal diagnostics

Dados básicos

Código:
Estudo Clínico Académico
Protocolo:
Estudo Clínico Académico
EUDRACT:
NCT:
Centro:
Dotação:
Ano de início:
2021
Ano de conclusão:
Estudos observacionais Nacional Não Financiado Outros

Objectivos do projeto

Estudos Observacionais (STROBE statement); Natureza do Promotor: Academia – Tipo não comercial – Iniciativa do Investigador; Tipo de Centro: Unicêntrico – Cuidados Secundários

Documentos

  • Não há documentos

Participantes

Unidades de investigação

Stakeholders - Promotores

FMUP

Outputs do ensaio clínico


Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management

Kasak, L; (...); Laan, M

Article. 10.1093/humrep/deac100. 2022

  • Open Access.

ANALYSIS OF EPIGENETIC REGULATORS IN SPERMATOZOA FROM INFERTILE PATIENTS

Gomes, V; (...); Marques, CJ

Meeting Abstract. 2022


Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility

Cervan Martin, M; (...); Carmona, FD

Article. 10.1111/andr.13221. 2022

  • Open Access.

Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome

Cervan Martin, M; (...); Palomino Morales, RJ

Article. 10.3390/jpm12060932. 2022

  • Open Access.

Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia

Guzm?n Jim?nez, A; (...); Lisbon, CG

Article. 10.3389/fcell.2022.1089782. 2022

  • Open Access.

Chemobrain: mitoxantrone-induced oxidative stress, apoptotic and autophagic neuronal death in adult CD-1 mice

Dias Carvalho, A; (...); Costa, VM

Article. 10.1007/s00204-022-03261-x. 2022


Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia

Afonso, A.; (...); Fontoura, M

Article. 10.20945/2359-3997000000437. 2022

  • Open Access.

Diverse monogenic subforms of human spermatogenic failure

Nagirnaja, L; (...); Conrad, DF

Article. 10.1038/s41467-022-35661-z. 2022

  • Open Access.

Early pathways of toxicity triggered by 3,4-methylene-dioxypyrovalerone unveiled by in vivo toxicometabolomics

Araujo, A. M.; (...); Carvalho, F.

Meeting Abstract. 2021


ESHRE PGT Consortium data collection XXI: PGT analyses in 2018

Spinella, F; (...); Van Montfoort, A

Article. 10.1093/hropen/hoad010. 2023

  • Open Access.

Synthetic Cannabinoids and senescence markersi n vitro: impact on cell proliferation, influence of cannabinoid receptors, and beta-galactosidase activity in SH-SY5Y cells

Roque-Bravo, R.; (...); Dias-da-Silva, D.

Meeting Abstract. 2023


The Complexity of Decisions in Genetics: Annotation of Three Novel Variants in the PKD1 and PKD2 Genes

Barata, R; (...); Oliveira, JP

Article. 10.1159/000534969. 2024


The influence of selected synthetic cannabinoids on in vitro proliferation and viability of neuronal cell models

Bravo, R. Roque; (...); Da Silva, D. Dias

Meeting Abstract. 10.1016/j.toxlet.2022.07.163. 2022


The influence of the anticancer drugs doxorubicin and mitoxantrone on cardiac metabolism and autophagy

Brandao, S. R.; (...); Costa, V. M.

Meeting Abstract. 2021


The synthetic cannabinoid ADB-FUBINACA modulates mitochondrial activity and dynamics during neurodifferentiation of NG108-15 cells

Malheiro, R. F.; (...); Silva, J. P.

Meeting Abstract. 10.1016/j.toxlet.2022.07.600. 2022


The synthetic cannabinoid THJ-2201 increases the differentiation of primary hippocampal neurons and early astrocyte activation but decreases neuronal maturation

Silva, R.; (...); Silva, J. P.

Meeting Abstract. 10.1016/j.toxlet.2022.07.602. 2022


The Synthetic Sannabinoid ADB-FUBINACA decreases global DNA methylation during the neuronal differentiation of NG108-15 cells by increasing TET activity

Pereira-Teixeira, C.; (...); Silva, J. P.

Meeting Abstract. 2023


Varenicline increases histone H3 acetylation, while affecting global DNA methylation on differentiated SH-SY5Y neuroblastoma cells

Marques, S. I.; (...); Silva, J. P.

Meeting Abstract. 2021


Characterization Of The Pathogenic Variants Landscape In 21-Hydroxylase Deficiency

Tese de doutoramento

Colaboradores: Filipa Abreu Gomes de Carvalho


Rapid Detection Of Aneuploidies In Prenatal Diagnostics

Projeto de fim de curso

Colaboradores: Filipa Abreu Gomes de Carvalho


Rapid Detection Of Aneuploidies In Prenatal Diagnostics

Dissertação de Mestrado

Colaboradores: Filipa Abreu Gomes de Carvalho


Partilhar