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Tytuł :
Basal cell carcinomas of the scalp after radiotherapy for tinea capitis in childhood: a genetic and epigenetic study with comparison with basal cell carcinomas evolving in chronically sun-exposed areas.
Autorzy :
Cardoso JC; Dermatology Department, Coimbra Hospital and University Centre, Coimbra, Portugal.
Ribeiro IP; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; iCBR-CIMAGO - Center of Investigation on Environment, Genetics and Oncobiology - Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Caramelo F; Laboratory of Biostatistics and Medical Informatics, IBILI - Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Tellechea O; Dermatology Department, Coimbra Hospital and University Centre, Coimbra, Portugal.
de Melo JB; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; iCBR-CIMAGO - Center of Investigation on Environment, Genetics and Oncobiology - Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; CNC, IBILI, Group of Aging and Brain Diseases: Advanced Diagnosis and Biomarkers, Coimbra, Portugal.
Carreira IM; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; iCBR-CIMAGO - Center of Investigation on Environment, Genetics and Oncobiology - Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; CNC, IBILI, Group of Aging and Brain Diseases: Advanced Diagnosis and Biomarkers, Coimbra, Portugal.
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Źródło :
Experimental dermatology [Exp Dermatol] 2020 Nov 17. Date of Electronic Publication: 2020 Nov 17.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Tremor is a major feature of 9p13 deletion syndrome.
Autorzy :
Ferreira SI; Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Cinnirella G; Medical Genetics Residency Program, Tor Vergata University of Rome and University of L'Aquila, L'Aquila, Italy.
Ramos L; Medical Genetics Unit, Pediatric Hospital, Coimbra Hospital and University Centre, Coimbra, Portugal.
Suppa A; Department of Human Neurosciences, Sapienza University, Rome, Italy.; Neuromed IRCCS, Pozzilli, Isernia, Italy.
Pires LM; Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Nardone AM; Laboratory of Medical Genetics, Policlinico Tor Vergata, Rome, Italy.
Camerota L; Medical Genetics Residency Program, Tor Vergata University of Rome and University of L'Aquila, L'Aquila, Italy.
Lanciotti S; Medical Genetics Residency Program, Tor Vergata University of Rome and University of L'Aquila, L'Aquila, Italy.
Galasso C; Department of Systems Medicine, Division of Child Neurology and Psychiatry, Tor Vergata University of Rome, Rome, Italy.
De Maio F; Department of Orthopaedic Surgery, Tor Vergata University of Rome, Rome, Italy.
de Melo JB; Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Coimbra Institute for Clinical and Biomedical Research (iCBR), Area of Environment, Genetics and Oncobiology (CIMAGO), Faculty of Medicine, University of Coimbra, Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal.; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.
Carreira IM; Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Coimbra Institute for Clinical and Biomedical Research (iCBR), Area of Environment, Genetics and Oncobiology (CIMAGO), Faculty of Medicine, University of Coimbra, Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal.; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.
Brancati F; Medical Genetics Laboratory, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Nov; Vol. 182 (11), pp. 2694-2698. Date of Electronic Publication: 2020 Sep 08.
Typ publikacji :
Case Reports; Research Support, Non-U.S. Gov't
Raport
Tytuł :
Phenotypic and genetic variations between Asian and Caucasian polypoidal choroidal vasculopathy.
Autorzy :
Jordan-Yu JM; Singapore Eye Research Institute, Singapore.; Singapore National Eye Centre, Singapore.
Teo K; Singapore Eye Research Institute, Singapore.; Singapore National Eye Centre, Singapore.
Fan Q; Centre for Quantitative Medicine, Duke-NUS Medical School, Singapore.
Gana JC; Singapore National Eye Centre, Singapore.
Leopando AK; Singapore National Eye Centre, Singapore.
Nunes S; Association for Innovation and Biomedical Research on Light and Image (AILIBI), Coimbra, Portugal.; Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Farinha C; Association for Innovation and Biomedical Research on Light and Image (AILIBI), Coimbra, Portugal.; Ophthalmology Department, Centro Hospitalar E Universitario De Coimbra (CHUC), Coimbra, Portugal.
Barreto P; Association for Innovation and Biomedical Research on Light and Image (AILIBI), Coimbra, Portugal.; Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Melo JB; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Carreira I; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Murta JN; Association for Innovation and Biomedical Research on Light and Image (AILIBI), Coimbra, Portugal.; Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Silva R; Association for Innovation and Biomedical Research on Light and Image (AILIBI), Coimbra, Portugal .; Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; ATLANTIC study group, EVICR.net, Portugal.
Cheung CMG; Singapore Eye Research Institute, Singapore .; Singapore National Eye Centre, Singapore.
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Źródło :
The British journal of ophthalmology [Br J Ophthalmol] 2020 Oct 09. Date of Electronic Publication: 2020 Oct 09.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome.
Autorzy :
Wafa A; Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, Damascus, Syria.
Jarjour RA; Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, Damascus, Syria.
Alolabi D; Department of Hematology, Damascus Children University Hospital, Ministry of High Education, Damascus, Syria.
Liehr T; Jena University Hospital, Institute of Human Genetics, Jena, Germany.
Hamdan O; Department of Hematology, Damascus Children University Hospital, Ministry of High Education, Damascus, Syria.
Melo JB; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; CIMAGO-Center of Investigation on Environment Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Carreira IM; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; CIMAGO-Center of Investigation on Environment Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Othman MAK; Jena University Hospital, Institute of Human Genetics, Jena, Germany.
Al-Achkar W; Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, Damascus, Syria.
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Źródło :
Molecular cytogenetics [Mol Cytogenet] 2020 Sep 11; Vol. 13, pp. 44. Date of Electronic Publication: 2020 Sep 11 (Print Publication: 2020).
Typ publikacji :
Case Reports
Raport
Tytuł :
Probability distribution of copy number alterations along the genome: an algorithm to distinguish different tumour profiles.
Autorzy :
Esteves L; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, 3000-354, Coimbra, Portugal.
Caramelo F; Laboratory of Biostatistics and Medical Informatics, IBILI-Faculty of Medicine, University of Coimbra, 3000-354, Coimbra, Portugal.
Ribeiro IP; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, 3000-354, Coimbra, Portugal.; iCBR-CIMAGO-Center of Investigation on Environment, Genetics and Oncobiology-Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Carreira IM; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, 3000-354, Coimbra, Portugal.; iCBR-CIMAGO-Center of Investigation on Environment, Genetics and Oncobiology-Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
de Melo JB; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, 3000-354, Coimbra, Portugal. .; iCBR-CIMAGO-Center of Investigation on Environment, Genetics and Oncobiology-Faculty of Medicine, University of Coimbra, Coimbra, Portugal. .
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Źródło :
Scientific reports [Sci Rep] 2020 Sep 10; Vol. 10 (1), pp. 14868. Date of Electronic Publication: 2020 Sep 10.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium.
Autorzy :
de Breuk A; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Acar IE; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Kersten E; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Schijvenaars MMVAP; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.
Colijn JM; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Haer-Wigman L; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Bakker B; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
de Jong S; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Meester-Smoor MA; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Verzijden T; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Missotten TOAR; The Rotterdam Eye Hospital, Rotterdam, The Netherlands.
Monés J; Barcelona Macula Foundation, Barcelona, Spain; Institut de la Màcula, Barcelona, Spain.
Biarnés M; Barcelona Macula Foundation, Barcelona, Spain; Institut de la Màcula, Barcelona, Spain.
Pauleikhoff D; Department of Ophthalmology, St. Franziskus Hospital, Münster, Germany.
Hense HW; Institute of Epidemiology and Social Medicine, Westfälische Wilhelms University, Münster, Germany.
Silva R; Department of Ophthalmology, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal; Coimbra Institute for Clinical and Biomedical Research, Faculty of Medicine, University of Coimbra (iCBR-FMUC), Coimbra, Portugal; Association for Innovation and Biomedical Research on Light and Image (AIBILI), Coimbra, Portugal.
Nunes S; Association for Innovation and Biomedical Research on Light and Image (AIBILI), Coimbra, Portugal.
Melo JB; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal; iCBR-CIMAGO, Center of Investigation on Environment, Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Fauser S; Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany.
Hoyng CB; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Ueffing M; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.
Coenen MJH; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.
Klaver CCW; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands; Institute of Molecular and Clinical Ophthalmology, Basel, Switzerland.
den Hollander AI; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: .
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Corporate Authors :
EYE-RISK Consortium
Źródło :
Ophthalmology [Ophthalmology] 2020 Jul 25. Date of Electronic Publication: 2020 Jul 25.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case.
Autorzy :
Wafa A; Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, Damascus, Syria.
Jarjour RA; Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, Damascus, Syria.
Aljapawe A; Department of Molecular Biology and Biotechnology, Mammalians Biology Division, Atomic Energy Commission, Damascus, Syria.
ALmedania S; Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, Damascus, Syria.
Liehr T; Jena University Hospital, Institute of Human Genetics, Jena, Germany.
Melo JB; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; CIMAGO-Center of Investigation On Environment Genetics and Oncobiology-Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Carreira IM; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; CIMAGO-Center of Investigation On Environment Genetics and Oncobiology-Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Othman MAK; Jena University Hospital, Institute of Human Genetics, Jena, Germany.
Al-Achkar W; Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, Damascus, Syria.
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Źródło :
Molecular cytogenetics [Mol Cytogenet] 2020 Jul 10; Vol. 13, pp. 29. Date of Electronic Publication: 2020 Jul 10 (Print Publication: 2020).
Typ publikacji :
Case Reports
Raport
Tytuł :
Proteomics-based Predictive Model for the Early Detection of Metastasis and Recurrence in Head and Neck Cancer.
Autorzy :
Ribeiro IP; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; iCBR-CIMAGO - Center of Investigation on Environment, Genetics and Oncobiology - Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Esteves L; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Anjo SI; CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
Marques F; iCBR-CIMAGO - Center of Investigation on Environment, Genetics and Oncobiology - Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Stomatology Unit, Coimbra Hospital and University Centre, CHUC, EPE, Coimbra, Portugal.; Department of Dentistry, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Barroso L; Maxillofacial Surgery Department, Coimbra Hospital and University Centre, CHUC, EPE, Coimbra, Portugal.
Manadas B; CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
Carreira IM; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; iCBR-CIMAGO - Center of Investigation on Environment, Genetics and Oncobiology - Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; CNC.IBILI, Group of Aging and Brain Diseases: Advanced Diagnosis and Biomarkers, Coimbra, Portugal.
Melo JB; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal .; iCBR-CIMAGO - Center of Investigation on Environment, Genetics and Oncobiology - Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; CNC.IBILI, Group of Aging and Brain Diseases: Advanced Diagnosis and Biomarkers, Coimbra, Portugal.
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Źródło :
Cancer genomics & proteomics [Cancer Genomics Proteomics] 2020 May-Jun; Vol. 17 (3), pp. 259-269.
Typ publikacji :
Journal Article
MeSH Terms :
Proteome/*metabolism
Squamous Cell Carcinoma of Head and Neck/*metabolism
Biomarkers, Tumor/metabolism ; Early Detection of Cancer/methods ; Female ; HMGB3 Protein/metabolism ; Head and Neck Neoplasms/diagnosis ; Head and Neck Neoplasms/metabolism ; Head and Neck Neoplasms/pathology ; Humans ; Male ; Mass Spectrometry/methods ; Neoplasm Metastasis ; Prognosis ; Quality of Life ; Squamous Cell Carcinoma of Head and Neck/diagnosis ; Squamous Cell Carcinoma of Head and Neck/pathology ; Survival Rate
Czasopismo naukowe
Tytuł :
Upper aerodigestive tract carcinoma: Development of a (epi)genomic predictive model for recurrence and metastasis.
Autorzy :
Ribeiro IP; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 3000-354 Coimbra, Portugal.; iCBR-CIMAGO-Coimbra Institute for Clinical and Biomedical Research/Center of Investigation on Environment Genetics and Oncobiology-Faculty of Medicine, University of Coimbra, 3001-301 Coimbra, Portugal.
Caramelo F; iCBR-CIMAGO-Coimbra Institute for Clinical and Biomedical Research/Center of Investigation on Environment Genetics and Oncobiology-Faculty of Medicine, University of Coimbra, 3001-301 Coimbra, Portugal.; Laboratory of Biostatistics and Medical Informatics, IBILI-Institute for Biomedical Imaging and Life Sciences, Faculty of Medicine, University of Coimbra, 3000-354 Coimbra, Portugal.
Ribeiro M; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 3000-354 Coimbra, Portugal.
Machado A; Department of Otorhinolaryngology-Head and Neck Surgery, Coimbra Hospital and University Centre, CHUC-Coimbra Hospital and University Centre, EPE, 3000-075 Coimbra, Portugal.
Miguéis J; Department of Otorhinolaryngology-Head and Neck Surgery, Coimbra Hospital and University Centre, CHUC-Coimbra Hospital and University Centre, EPE, 3000-075 Coimbra, Portugal.
Marques F; iCBR-CIMAGO-Coimbra Institute for Clinical and Biomedical Research/Center of Investigation on Environment Genetics and Oncobiology-Faculty of Medicine, University of Coimbra, 3001-301 Coimbra, Portugal.; Department of Dentistry, Faculty of Medicine, University of Coimbra, 3000-075 Coimbra, Portugal.; Stomatology Unit, Coimbra Hospital and University Centre, CHUC-Coimbra Hospital and University Centre, EPE, 3000-075 Coimbra, Portugal.
Carreira IM; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 3000-354 Coimbra, Portugal.; iCBR-CIMAGO-Coimbra Institute for Clinical and Biomedical Research/Center of Investigation on Environment Genetics and Oncobiology-Faculty of Medicine, University of Coimbra, 3001-301 Coimbra, Portugal.
Melo JB; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 3000-354 Coimbra, Portugal.; iCBR-CIMAGO-Coimbra Institute for Clinical and Biomedical Research/Center of Investigation on Environment Genetics and Oncobiology-Faculty of Medicine, University of Coimbra, 3001-301 Coimbra, Portugal.
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Źródło :
Oncology letters [Oncol Lett] 2020 May; Vol. 19 (5), pp. 3459-3468. Date of Electronic Publication: 2020 Mar 12.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Complex karyotype with cryptic FUS gene rearrangement and deletion of NR3C1 and VPREB1 genes in childhood B-cell acute lymphoblastic leukemia: A case report.
Autorzy :
Othman MAK; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, D-07747 Jena, Germany.
Đurišić M; Mother and Child Health Care Institute of Serbia 'Dr Vukan Cupic', 11070 Belgrade, Serbia.
Samardzija G; Mother and Child Health Care Institute of Serbia 'Dr Vukan Cupic', 11070 Belgrade, Serbia.
Vujić D; Medical School, University of Belgrade, 11000 Belgrade, Serbia.
Lakic N; Mother and Child Health Care Institute of Serbia 'Dr Vukan Cupic', 11070 Belgrade, Serbia.
Zecevic Z; Mother and Child Health Care Institute of Serbia 'Dr Vukan Cupic', 11070 Belgrade, Serbia.
Al-Shaheri F; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, D-07747 Jena, Germany.
Aroutiounian R; Department of Genetics and Cytology, Yerevan State University, 0025 Yerevan, Armenia.
Melo JB; Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, 3000-354 Coimbra, Portugal.; CIMAGO, Center for Research in The Environment, Genetics and Oncobiology, 3000-548 Coimbra, Portugal.
Carreira IM; Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, 3000-354 Coimbra, Portugal.; CIMAGO, Center for Research in The Environment, Genetics and Oncobiology, 3000-548 Coimbra, Portugal.
Meyer B; ZytoVision, D-27572 Bremerhaven, Germany.
Liehr T; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, D-07747 Jena, Germany.
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Źródło :
Oncology letters [Oncol Lett] 2020 Apr; Vol. 19 (4), pp. 2957-2962. Date of Electronic Publication: 2020 Feb 12.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Molecular cytogenetic pilot study on pleomorphic adenomas of salivary glands.
Autorzy :
Thielker J; Department of Otorhinolaryngology, Jena University Hospital, Friedrich Schiller University, D-07747 Jena, Germany.
Weise A; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, D-07747 Jena, Germany.
Othman MAK; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, D-07747 Jena, Germany.
Carreria IM; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, Coimbra 3000-354, Portugal.; The Center of Investigation On Environment Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, Coimbra 3000-354, Portugal.
Melo JB; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, Coimbra 3000-354, Portugal.; The Center of Investigation On Environment Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, Coimbra 3000-354, Portugal.
Von Eggeling F; Department of Otorhinolaryngology, Jena University Hospital, Friedrich Schiller University, D-07747 Jena, Germany.; Institute of Physical Chemistry, Friedrich Schiller University Jena, D-07743 Jena, Germany.
Guntinas-Lichius O; Department of Otorhinolaryngology, Jena University Hospital, Friedrich Schiller University, D-07747 Jena, Germany.
Ziegler M; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, D-07747 Jena, Germany.
Liehr T; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, D-07747 Jena, Germany.
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Źródło :
Oncology letters [Oncol Lett] 2020 Feb; Vol. 19 (2), pp. 1125-1130. Date of Electronic Publication: 2019 Dec 10.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Chromosomal breakpoints in a cohort of head and neck squamous cell carcinoma patients.
Autorzy :
Ribeiro IP; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal; iCBR-CIMAGO - Center of Investigation on Environment, Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Carreira IM; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal; iCBR-CIMAGO - Center of Investigation on Environment, Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Esteves L; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Caramelo F; Laboratory of Biostatistics and Medical Informatics, IBILI - Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Liehr T; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Melo JB; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal; iCBR-CIMAGO - Center of Investigation on Environment, Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal. Electronic address: .
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Źródło :
Genomics [Genomics] 2020 Jan; Vol. 112 (1), pp. 297-303. Date of Electronic Publication: 2019 Feb 23.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
(Cyto)genomic and epigenetic characterization of BICR 10 cell line and three new established primary human head and neck squamous cell carcinoma cultures.
Autorzy :
Ribeiro IP; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, 3000-354, Coimbra, Portugal.; CIMAGO-Center of Investigation On Environment Genetics and Oncobiology-Faculty of Medicine, University of Coimbra, 3000-354, Coimbra, Portugal.
Rodrigues JM; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, 3000-354, Coimbra, Portugal.
Mascarenhas A; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, 3000-354, Coimbra, Portugal.
Marques V; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, 3000-354, Coimbra, Portugal.
Caramelo F; Laboratory of Biostatistics and Medical Informatics, IBILI-Faculty of Medicine, University of Coimbra, 3000-354, Coimbra, Portugal.
Julião MJ; Department of Patholog, Coimbra Hospital and University Centre, CHUC, EPE, 3000-075, Coimbra, Portugal.
Liehr T; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Melo JB; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, 3000-354, Coimbra, Portugal.; CIMAGO-Center of Investigation On Environment Genetics and Oncobiology-Faculty of Medicine, University of Coimbra, 3000-354, Coimbra, Portugal.
Carreira IM; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, 3000-354, Coimbra, Portugal. .; CIMAGO-Center of Investigation On Environment Genetics and Oncobiology-Faculty of Medicine, University of Coimbra, 3000-354, Coimbra, Portugal. .
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Źródło :
Genes & genomics [Genes Genomics] 2019 Oct; Vol. 41 (10), pp. 1207-1221. Date of Electronic Publication: 2019 Jul 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cell Line, Tumor*/cytology
Epigenesis, Genetic*
Genomics*
Head and Neck Neoplasms/*genetics
Squamous Cell Carcinoma of Head and Neck/*genetics
Cell Culture Techniques ; Chromosome Aberrations ; Chromosome Banding ; Comparative Genomic Hybridization ; DNA Methylation ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping
Czasopismo naukowe
Tytuł :
Cytogenetics and Cytogenomics Evaluation in Cancer.
Autorzy :
Ribeiro IP; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 3004-531 Coimbra, Portugal. .; iCBR-CIMAGO, Center of Investigation on Environment, Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, 3004-531 Coimbra, Portugal. .
Melo JB; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 3004-531 Coimbra, Portugal. .; iCBR-CIMAGO, Center of Investigation on Environment, Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, 3004-531 Coimbra, Portugal. .; CNC, IBILI, Group of Aging and Brain Diseases: Advanced Diagnosis and Biomarkers, 3004-531 Coimbra, Portugal. .
Carreira IM; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 3004-531 Coimbra, Portugal. .; iCBR-CIMAGO, Center of Investigation on Environment, Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, 3004-531 Coimbra, Portugal. .; CNC, IBILI, Group of Aging and Brain Diseases: Advanced Diagnosis and Biomarkers, 3004-531 Coimbra, Portugal. .
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2019 Sep 23; Vol. 20 (19). Date of Electronic Publication: 2019 Sep 23.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Chromosome Aberrations*
Comparative Genomic Hybridization*
High-Throughput Nucleotide Sequencing*
Neoplasms*/diagnosis
Neoplasms*/genetics
Precision Medicine*
Biomarkers, Tumor/*genetics
Humans ; Prognosis
Czasopismo naukowe
Tytuł :
Head and neck cancer: searching for genomic and epigenetic biomarkers in body fluids - the state of art.
Autorzy :
Ribeiro IP; 1Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Pólo Ciências da Saúde, Coimbra, Portugal.; 2iCBR-CIMAGO - Center of Investigation on Environment Genetics and Oncobiology - Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
de Melo JB; 1Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Pólo Ciências da Saúde, Coimbra, Portugal.; 2iCBR-CIMAGO - Center of Investigation on Environment Genetics and Oncobiology - Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Carreira IM; 1Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Pólo Ciências da Saúde, Coimbra, Portugal.; 2iCBR-CIMAGO - Center of Investigation on Environment Genetics and Oncobiology - Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
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Źródło :
Molecular cytogenetics [Mol Cytogenet] 2019 Jul 11; Vol. 12, pp. 33. Date of Electronic Publication: 2019 Jul 11 (Print Publication: 2019).
Typ publikacji :
Journal Article; Review
Czasopismo naukowe
Tytuł :
A New Complex Karyotype Involving a KMT2A-r Variant Three-Way Translocation in a Rare Clinical Presentation of a Pediatric Patient with Acute Myeloid Leukemia.
Autorzy :
Capela de Matos RR
Ney Garcia DR
Othman MAK
Moura Ferreira G
Melo JB
Carreira IM
Meyer C
Marschalek R
Costa ES
Land MGP
Liehr T
Ribeiro RC
Silva MLM
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Źródło :
Cytogenetic and genome research [Cytogenet Genome Res] 2019; Vol. 157 (4), pp. 213-219. Date of Electronic Publication: 2019 Apr 12.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Translocation, Genetic*
Histone-Lysine N-Methyltransferase/*genetics
Leukemia, Myeloid, Acute/*genetics
Myeloid-Lymphoid Leukemia Protein/*genetics
Neoplasm Proteins/*genetics
Nuclear Proteins/*genetics
Transcription Factors/*genetics
Transcriptional Elongation Factors/*genetics
Child ; Chromosomes, Human, Pair 11/genetics ; Chromosomes, Human, Pair 16/genetics ; Chromosomes, Human, Pair 19/genetics ; Humans ; Karyotype ; Male ; Oncogene Proteins, Fusion/genetics ; Up-Regulation
Czasopismo naukowe
Tytuł :
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability.
Autorzy :
Ceroni JRM; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da USP, HCFMUSP, São Paulo, SP, Brazil. .
Dutra RL; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Honjo RS; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da USP, HCFMUSP, São Paulo, SP, Brazil.
Llerena JC Jr; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira - Fiocruz, Rio de Janeiro, RJ, Brazil.
Acosta AX; Universidade Federal da Bahia, Salvador, BA, Brazil.
Medeiros PFV; Universidade Federal de Campina Grande, Campina Grande, PB, Brazil.
Galera MF; Universidade Federal do Mato Grosso, Cuiabá, MT, Brazil.
Zanardo ÉA; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Piazzon FB; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Dias AT; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Novo-Filho GM; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Montenegro MM; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Madia FAR; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Bertola DR; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da USP, HCFMUSP, São Paulo, SP, Brazil.; Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil., São Paulo, SP, Brazil.
de Melo JB; Laboratório de Citogenética e Genómica - Faculdade de Medicina, Universidade de Coimbra, CIMAGO - Centro de Investigação em Meio Ambiente, Genética e Oncobiologia, Faculdade de Medicina, Universidade de Coimbra, Faculdade de Medicina, Universidade de Coimbra, CNC, IBILI - Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal.
Kulikowski LD; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Kim CA; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da USP, HCFMUSP, São Paulo, SP, Brazil.
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Źródło :
Scientific reports [Sci Rep] 2018 Sep 06; Vol. 8 (1), pp. 13382. Date of Electronic Publication: 2018 Sep 06.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Congenital Abnormalities/*genetics
Intellectual Disability/*genetics
Adolescent ; Adult ; Brazil ; Child ; Child, Preschool ; Female ; Gene Dosage ; Humans ; Infant ; Male ; Multiplex Polymerase Chain Reaction
Czasopismo naukowe
Tytuł :
Genetics and myocardial infarction.
Autorzy :
Melo JB; Laboratório de Citogenética e Genómica, CNC.IBILI, CIMAGO, Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal. Electronic address: .
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Źródło :
Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology [Rev Port Cardiol] 2018 Sep; Vol. 37 (9), pp. 737-738. Date of Electronic Publication: 2018 Sep 07.
Typ publikacji :
Journal Article; Comment
MeSH Terms :
Coronary Artery Disease*
Myocardial Infarction*
Humans ; Myocardium
Czasopismo naukowe

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