A Case of Cushing's Disease and a RET Pathogenic Variant: Exploring Possible Rare Associations.

Autor: Vaz de Assunção G; Endocrinology, Diabetes, and Metabolism, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, PRT., Capela AM; Medical Genetics, Genetics and Pathology, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, PRT., Fonseca L; Endocrinology, Diabetes, and Metabolism, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, PRT., Falcão Reis C; Medical Genetics, Genetics and Pathology, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, PRT.; Medical Genetics, Life and Health Sciences Research Institute (ICVS) 3B's Research Group, PT Government Associate Laboratory, Braga, PRT.; Medical Genetics, Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sciences Institute, Porto University, Porto, PRT.; Medical Genetics, Life and Health Sciences Research Institute (ICVS) University of Minho, Campus de Gualtar, Braga, PRT., Amaral C; Endocrinology, Diabetes, and Metabolism, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, PRT.

Publikováno v: Cureus [Cureus] 2024 Oct 08; Vol. 16 (10), pp. e71058. Date of Electronic Publication: 2024 Oct 08 (Print Publication: 2024).

Acute Lymphoblastic Leukemia in a Pediatric Patient With Turnpenny-Fry Syndrome.

Autor: Patrício Rodrigues I; Pediatrics, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, PRT., Teixeira B; Pediatrics, Centro Materno-Infantil do Norte, Centro Hospitalar e Universitário de Santo António, Porto, PRT., Capela AM; Medical Genetics, Centro de Genética Médica Jacinto Magalhães, Centro Hospitalar Universitário de Santo António, Porto, PRT., Almeida M; Pediatric Oncology, Instituto Português de Oncologia do Porto Francisco Gentil, Porto, PRT., Falcão Reis C; Medical Genetics, Centro de Genética Médica Jacinto Magalhães, Centro Hospitalar Universitário de Santo António, Porto, PRT.; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sciences Institute, Porto University, Porto, PRT.; Life and Health Sciences Research Institute (ICVS), University of Minho, Campus de Gualtar, Braga, PRT.; ICVS/3B's, PT Government Associated Laboratory, Braga/Guimarães, PRT.

Publikováno v: Cureus [Cureus] 2024 Jan 28; Vol. 16 (1), pp. e53099. Date of Electronic Publication: 2024 Jan 28 (Print Publication: 2024).

Expression of NORAD correlates with breast cancer aggressiveness and protects breast cancer cells from chemotherapy.

Autor: Alves-Vale C; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal.; Hospital CUF Descobertas, CUF Oncologia, 1998-018 Lisbon, Portugal., Capela AM; Department of Medical Sciences and Institute of Biomedicine - iBiMED, University of Aveiro, 3810-193 Aveiro, Portugal., Tavares-Marcos C; Department of Medical Sciences and Institute of Biomedicine - iBiMED, University of Aveiro, 3810-193 Aveiro, Portugal., Domingues-Silva B; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal., Pereira B; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.; IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal., Santos F; Department of Medical Sciences and Institute of Biomedicine - iBiMED, University of Aveiro, 3810-193 Aveiro, Portugal., Gomes CP; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal., Espadas G; Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Universitat Pompeu Fabra, Barcelona, Spain., Vitorino R; Department of Medical Sciences and Institute of Biomedicine - iBiMED, University of Aveiro, 3810-193 Aveiro, Portugal., Sabidó E; Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Universitat Pompeu Fabra, Barcelona, Spain., Borralho P; Hospital CUF Descobertas, CUF Oncologia, 1998-018 Lisbon, Portugal.; Faculdade de Medicina, Universidade de Lisboa, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal., Nóbrega-Pereira S; Department of Medical Sciences and Institute of Biomedicine - iBiMED, University of Aveiro, 3810-193 Aveiro, Portugal., Bernardes de Jesus B; Department of Medical Sciences and Institute of Biomedicine - iBiMED, University of Aveiro, 3810-193 Aveiro, Portugal.

Publikováno v: Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2023 Aug 18; Vol. 33, pp. 910-924. Date of Electronic Publication: 2023 Aug 18 (Print Publication: 2023).