Copy number variations on chromosome 2: impact on human phenotype

Dados básicos

Código:
Estudo Clínico Académico
Protocolo:
Estudo Clínico Académico
EUDRACT:
NCT:
Centro:
Dotação:
Ano de início:
2022
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 non-linear Beckwith-Wiedemann syndrome diagnosis

Oliveira, R; (...); Grangeia, A

Meeting Abstract. 2023


ARE X-CHROMOSOME INACTIVATION PATTERN AND TELOMERE LENGTH UNDERLYING RECURRENT PREGNANCY LOSS?

Vaz, D; (...); Dória, S

Meeting Abstract. 2023


Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage

David, D; (...); Morton, CC

Article. 10.1016/j.gene.2023.147737. 2023

  • Open Access.

COPY NUMBER VARIATIONS ON CHROMOSOME X AND IMPACT IN NEURODEVELOPMENT DISORDERS

Martins, T; (...); Dória, S

Meeting Abstract. 2023


Klinefelter syndrome: The characterization of the clinical and sociological features of 51 patients

Mendonça, F; (...); Carvalho, D

Article. 10.1016/j.androl.2023.100349. 2023


Klinefelter syndrome: The characterization of the clinical and sociological features of 51 patients.

Mendonca, F; (...); Carvalho, D

Article. 2023


NEW VARIANTS CAUSING OKUR-CHUNG SYNDROME AND MACROCEPHALY

Vasconcelos, AP; (...); Oliveira, R

Meeting Abstract. 2023


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


Syncytiotrophoblast Markers Are Downregulated in Placentas from Idiopathic Stillbirths

Vasconcelos, S; (...); Dória, S

Article. 10.3390/ijms25105180. 2024

  • Open Access.

X-chromosome inactivation pattern and telomere length in recurrent pregnancy loss

Vaz, Diane; (...); Doria, Sofia

Article. 10.1016/j.repbio.2024.100933. 2024

  • Open Access.

Copy Number Variants On Chromosome X  And Impact In Neurodevelopment Disorders

Projeto de fim de curso

Colaboradores: Sofia Dória Príncipe dos Santos Cerveira


Copy Number Variations On Chromosome 2: Impact On Human Phenotype

Projeto de fim de curso

Colaboradores: Sofia Dória Príncipe dos Santos Cerveira


Copy Number Variations On Chromosome 2: Impact On Human Phenotype

Dissertação de Mestrado

Colaboradores: Sofia Dória Príncipe dos Santos Cerveira


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