A familial case of diffuse periventricular nodular heterotopia identified prenatally: Filamin A defect as the probable cause.

Autor: Neves MT; Department of Medical Genetics, Hospital de Santa Maria, Unidade Local de Saúde Santa Maria, Av. Professor Egas Moniz, Lisboa 1649-035, Portugal., Borges AL; Department of Obstetrics and Gynecology, Hospital de São Francisco Xavier, Unidade Local de Saúde de Lisboa Ocidental, Estrada Forte do Alto Duque, Lisboa 1449-005, Portugal., Martins G; Department of Neurological Imaging, Hospital de Santa Maria, Unidade Local de Saúde Santa Maria, Av. Professor Egas Moniz, Lisboa 1649-035, Portugal., Sá G; Department of Neurological Imaging, Hospital de Santa Maria, Unidade Local de Saúde Santa Maria, Av. Professor Egas Moniz, Lisboa 1649-035, Portugal., Loureiro T; Ultrasound and Prenatal Diagnosis Unit, Department of Obstetrics and Gynecology, Hospital de Santa Maria, Unidade Local de Saúde Santa Maria, Av. Professor Egas Moniz, Lisboa 1649-035, Portugal., Moldovan O; Department of Medical Genetics, Hospital de Santa Maria, Unidade Local de Saúde Santa Maria, Av. Professor Egas Moniz, Lisboa 1649-035, Portugal.

Publikováno v: Radiology case reports [Radiol Case Rep] 2024 Aug 31; Vol. 19 (11), pp. 5393-5398. Date of Electronic Publication: 2024 Aug 31 (Print Publication: 2024).

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.

Autor: Awamleh Z; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Choufani S; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Cytrynbaum C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Scherer S; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; Institute of Medical Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada., Fernandes S; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal.; Familial Risk Clinic, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal., Rosas C; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal., Louro P; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal., Dias P; Serviço de Genética Médica, Departamento de Pediatria, Centro Hospitalar Lisboa Norte, Hospital de Santa Maria, EPE, Lisbon, Portugal., Neves MT; Serviço de Genética Médica, Departamento de Pediatria, Centro Hospitalar Lisboa Norte, Hospital de Santa Maria, EPE, Lisbon, Portugal., Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal., Weksberg R; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; Institute of Medical Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A8, Canada.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2023 Apr 20; Vol. 32 (9), pp. 1429-1438.

Fecal Microbiota Transplant in Immunotherapy-Resistant Melanoma: What Can We Expect in the Near Future?

Autor: Ferreira A; Medical Oncology, Hospital de São Francisco Xavier, Lisbon, PRT., Neves MT; Medical Oncology, Hospital de São Francisco Xavier, Lisbon, PRT., Baleiras A; Medical Oncology, Hospital de São Francisco Xavier, Lisbon, PRT., Malheiro M; Medical Oncology, Hospital CUF (Companhia União Fabril) Tejo, Lisbon, PRT.; Medical Oncology, Hospital de São Francisco Xavier, Lisbon, PRT., Martins A; Medical Oncology, Hospital de São Francisco Xavier, Lisbon, PRT.

Publikováno v: Cureus [Cureus] 2022 Dec 16; Vol. 14 (12), pp. e32586. Date of Electronic Publication: 2022 Dec 16 (Print Publication: 2022).

Association of Weight Change, Inflammation Markers and Disease Staging with Survival of Patients Undergoing Chemotherapy for Pancreatic Adenocarcinoma.

Autor: Vasconcelos de Matos L; Department of Medical Oncology Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal., Coelho A; Department of Medical Oncology Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal., Cunha R; Medical Oncology Department, Hospital do Espírito Santo, Évora, Portugal., Fernandes L; Department of Medical Oncology Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal., Fontes E Sousa M; Medical Oncology Department, Hospital CUF Tejo, Lisboa, Portugal., Neves MT; Department of Medical Oncology Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal., Cardoso D; Department of Medical Oncology Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal., Malheiro M; Department of Medical Oncology Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal.; Medical Oncology Department, Hospital CUF Tejo, Lisboa, Portugal., Graça J; Department of Medical Oncology Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal., Santos Silva E; Dietetic and Nutrition Department, Instituto Português de Oncologia de Lisboa, Portugal., Plácido A; Department of Medical Oncology Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal., Martins A; Department of Medical Oncology Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal.

Publikováno v: Nutrition and cancer [Nutr Cancer] 2022; Vol. 74 (2), pp. 546-554. Date of Electronic Publication: 2021 Mar 22.

COVID-19 and aging: Identifying measures of severity.

Autor: Neves MT; Department of Medical Oncology Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal., de Matos LV; Department of Medical Oncology Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal., Vasques AC; Department of Medical Oncology Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal., Sousa IE; Department of Internal Medicine, Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal., Ferreira I; Department of Internal Medicine, Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal., Peres S; Department of Infectious Diseases, Hospital Egas Moniz, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal., Jesus S; Department of Internal Medicine, Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal., Fonseca C; Department of Internal Medicine, Hospital São Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal., Mansinho K; Department of Infectious Diseases, Hospital Egas Moniz, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal.

Publikováno v: SAGE open medicine [SAGE Open Med] 2021 Jun 24; Vol. 9, pp. 20503121211027462. Date of Electronic Publication: 2021 Jun 24 (Print Publication: 2021).