Portal de investigação
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:
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
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
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
X-chromosome inactivation pattern and telomere length in recurrent pregnancy loss
Vaz, Diane; (...); Doria, Sofia
Article. 10.1016/j.repbio.2024.100933. 2024
