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Page 1
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C. Garcia-Pelaez J, et al. Among authors: barbosa matos r. Lancet Oncol. 2023 Jan;24(1):91-106. doi: 10.1016/S1470-2045(22)00643-X. Epub 2022 Nov 24. Lancet Oncol. 2023. PMID: 36436516 Free PMC article.
Genetic and Epigenetic Alterations of CDH1 Regulatory Regions in Hereditary and Sporadic Gastric Cancer.
Tedaldi G, Molinari C, São José C, Barbosa-Matos R, André A, Danesi R, Arcangeli V, Ravegnani M, Saragoni L, Morgagni P, Rebuzzi F, Canale M, Pignatta S, Ferracci E, Martinelli G, Ranzani GN, Oliveira C, Calistri D, Ulivi P. Tedaldi G, et al. Among authors: barbosa matos r. Pharmaceuticals (Basel). 2021 May 12;14(5):457. doi: 10.3390/ph14050457. Pharmaceuticals (Basel). 2021. PMID: 34066170 Free PMC article.
The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.
Barbosa-Matos R, Leal Silva R, Garrido L, Aguiar AC, Garcia-Pelaez J, André A, Seixas S, Sousa SP, Ferro L, Vilarinho L, Gullo I, Devezas V, Oliveira R, Fernandes S, Costa SC, Magalhães A, Baptista M, Carneiro F, Pinheiro H, Castedo S, Oliveira C. Barbosa-Matos R, et al. Cancers (Basel). 2021 Sep 4;13(17):4464. doi: 10.3390/cancers13174464. Cancers (Basel). 2021. PMID: 34503274 Free PMC article.
The European Society of Human Genetics-Young committee- activities and achievements between 2019-2022.
Avram E, Ding C, de Miranda Cerqueira JX, Johari M, da Silva ARGF, Săbău ID, Noor N, Kalantari S, Dore R, Barbosa-Matos R, Mroczek M, Tonini F; European Society of Human Genetics - Young Committee. Avram E, et al. Among authors: barbosa matos r. Eur J Hum Genet. 2023 Apr;31(4):383-386. doi: 10.1038/s41431-023-01300-4. Epub 2023 Feb 9. Eur J Hum Genet. 2023. PMID: 36755105 Free PMC article.
Advancing intercontinental collaboration in human genetics: success story of the African and European Young Investigator Forum.
Alimohamed MZ, Mnika K, Adadey SM, Barbosa-Matos R, Avram E, Nevondwe P, Akurugu WA, Mupfururirwa W, de Miranda Cerqueira JX, Dore R, Săbău ID, Kalantari S, da Silva ARGF, Anzaku AA, Matimba A, Chauke PA, Johari M, Nembaware V, Mroczek M. Alimohamed MZ, et al. Among authors: barbosa matos r. Eur J Hum Genet. 2024 Jan;32(1):3-5. doi: 10.1038/s41431-023-01487-6. Epub 2023 Oct 26. Eur J Hum Genet. 2024. PMID: 37880422 No abstract available.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Diffuse Gastric and Lobular Breast Cancer Syndrome.
Barbosa-Matos R, Córdova L, Schrader K, Oliveira C. Barbosa-Matos R, et al. 2002 Nov 4 [updated 2024 Oct 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Nov 4 [updated 2024 Oct 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301318 Free Books & Documents. Review.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
11 results