Genetic hearing loss: GJB2 gene and a targeted-gene panel analysis

Dados básicos

Código:
Estudo Clínico Académico
Protocolo:
Estudo Clínico Académico
EUDRACT:
NCT:
Centro:
Dotação:
Ano de início:
2020
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


A multicentric analysis of prognostic factors in malignant pleural mesothelioma.

Baptista, M; (...); Valente, M

Article. 2022


A NOVEL HOMOZYGOUS DELETION IN CCDC32 GENE CAUSING CARDIOFACIO- NEURODEVELOPMENTAL SYNDROME

Quental, R, Grangeia, A, Moura, CP

Meeting Abstract. 2023


A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported

da Rocha, DF; (...); Moura, C.

Article. 10.1097/mcd.0000000000000501. 2024


AP1B1-RELATED AUTOSSOMAL RECESSIVE KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME (KIDAR)

Vasconcelos, AP; (...); Moura, CP

Meeting Abstract. 2022


Clown Nose: A Rare Hypopharyngeal Cancer Metastasis

Alexandre, PL; (...); Moura, C.

Article. 10.1177/01455613211069349. 2022

  • Open Access.

Comparison Between the Veillon and the Symons-Fanning CT Classification Systems for Otosclerosis

Pinto, JV; (...); Marques, P

Article. 10.1097/mao.0000000000004311. 2024


Comparison of Clinical and Pathological Staging in Patients with Head and Neck Cancer After Elective Neck Dissection

Pinto, JV; (...); Moura, CP

Meeting Abstract. 2021


Comparison of Clinical and Pathological Staging in Patients with Head and Neck Cancer After Neck Dissection

Pinto, JV; (...); Moura, C.

Article. 10.1055/s-0042-1758208. 2023

  • Open Access.

Exploring the Interaction of Indole-3-Acetonitrile with Neuroblastoma Cells: Understanding the Connection with the Serotonin and Dopamine Pathways.

Moura, C, Correia, AS, Vale, N

Article. 2023


Facial nerve dysfunction following parotidectomy: role of intraoperative facial nerve monitoring

Ruas, JJ; (...); Moura, C.

Article. 10.1007/s00405-022-07720-0. 2022


Facial nerve dysfunction following parotidectomy: role of intraoperative facial nerve monitoring.

Ruas, JJ; (...); moura, cp

Article. 2023


GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population

Reis, CS; (...); Moura, C.

Article. 10.20344/amp.13781. 2021

  • Open Access.

GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population.

Reis, CS; (...); moura, cp

Article. 2021


Is Computed Tomography Necessary Before Septoplasty? Correlation With Physical Examination and Patient Complaints

de Sousa, MM; (...); Moura, C.

Article. 10.7759/cureus.38558. 2023

  • Open Access.

Nodal Yield in Level II-IV Neck Dissections in Head and Neck Squamous Cell Carcinoma

Pinto, JV; (...); Moura, C.

Article. 10.7759/cureus.63310. 2024

  • Open Access.

Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital

Moreira, T; (...); Moura, C.

Article. 10.1111/cga.12538. 2023


P-167 Comparison of Clinical and Pathological Staging in Patients with Head and Neck Cancer After Elective Neck Dissection

Pinto, JV; (...); Moura, C.

Article. 10.1016/s1368-8375(21)00453-x. 2021


Pediatric pneumolabyrinth: managing otologic trauma

Andrade, A; (...); Spratley, J

Article. 10.1007/s00405-024-09196-6. 2025


Prevalence of acute otitis media in children younger than four years

Marques, T; (...); Migueis, A

Meeting Abstract. 10.1093/eurpub/ckab120.054. 2021

  • Open Access.

Prognostic Role of the Initial Grade of Dysplasia on Premalignant Vocal Fold Lesions

Moura, C., Pinto, J.

Article. 10.1016/j.jvoice.2022.07.015. 2022


Republication de : Sternohyoid or sternocleidomastoid muscle flap for tracheoesophageal puncture closure in irradiated patients: A CARE case series

Alexandre, PL; (...); Moura, C.

Article. 10.1016/j.aforl.2024.05.001. 2024


Rigid Esophagoscopy for Foreign Body Extraction: Results and Complications in the Endoscopic Era

Alexandre, PL; (...); Moura, C.

Article. 10.7759/cureus.53040. 2024

  • Open Access.

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

Vasconcelos, AP; (...); Moura, C.

Review. 10.1016/j.ejmg.2023.104827. 2023


Sternohyoid or sternocleidomastoid muscle flap for tracheoesophageal puncture closure in irradiated patients: A CARE case series

Alexandre, PL; (...); Moura, C.

Article. 10.1016/j.anorl.2023.09.006. 2023


Subannular Tubes in Children With Cleft Palate

Martins, SP; (...); Moura, C.

Article. 10.1177/1055665621990178. 2021


The Role of Dopamine in Repurposing Drugs for Oncology.

Moura, C, Vale, N

Review. 2023


Transnasal endoscopic excision of a dermoid cyst of the nasal septum in an infant: A case report

S?nia P Martins; (...); Jorge SpratleyAB -

Article. 10.38207/JMCRCS/2022/JAN03020514. 2022


Understanding Zenker's Diverticulum Treatment: Transoral CO2 Laser Microsurgery

Sousa, PS; (...); Moura, C.

Article. 10.7759/cureus.53329. 2024

  • Open Access.

What is the impact of COVID-19 on the diagnosis and treatment of patients with cancer?

Sousa, MM; (...); Moura, CP

Meeting Abstract. 2021


Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study

Reis, CS; (...); Moura, C.

Article. 10.1159/000523840. 2022

  • Open Access.

Genetic Hearing Loss: Gjb2 Gene And A Targeted-Gene Panel Analysis

Projeto de fim de curso

Colaboradores: Carla Isabel Ferreira Pinto Moura


Genetic Hearing Loss: Gjb2 Gene And A Targeted-Gene Panel Analysis

Dissertação de Mestrado

Colaboradores: Carla Isabel Ferreira Pinto Moura


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