Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.

Autor: Krepischi ACV; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, São Paulo, ZIP Code 05508-090, Brazil.; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Villela D; Diagnósticos da América S.A., DASA, São Paulo, Brazil., da Costa SS; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, São Paulo, ZIP Code 05508-090, Brazil., Mazzonetto PC; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Schauren J; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Migliavacca MP; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Milanezi F; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Santos JG; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Guida G; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Guarischi-Sousa R; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Campana G; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Kok F; Mendelics, São Paulo, SP, Brazil., Schlesinger D; Mendelics, São Paulo, SP, Brazil., Kitajima JP; Mendelics, São Paulo, SP, Brazil., Campagnari F; Mendelics, São Paulo, SP, Brazil., Bertola DR; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, São Paulo, ZIP Code 05508-090, Brazil.; Instituto da Criança Do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Vianna-Morgante AM; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, São Paulo, ZIP Code 05508-090, Brazil., Pearson PL; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, São Paulo, ZIP Code 05508-090, Brazil., Rosenberg C; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, São Paulo, ZIP Code 05508-090, Brazil. carlarosenberg@ib.usp.br.; Diagnósticos da América S.A., DASA, São Paulo, Brazil. carlarosenberg@ib.usp.br.

Publikováno v: Scientific reports [Sci Rep] 2022 Sep 07; Vol. 12 (1), pp. 15184. Date of Electronic Publication: 2022 Sep 07.

Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.

Autor: Villela D; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.; GeneOne, DASA, Brazil., Mazzonetto PC; GeneOne, DASA, Brazil., Migliavacca MP; GeneOne, DASA, Brazil., Perrone E; GeneOne, DASA, Brazil.; Department of Clinical Genetics, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Guida G; GeneOne, DASA, Brazil., Milanezi MFG; GeneOne, DASA, Brazil., Jorge AAL; Genetic Endocrinology Unit, Laboratory of Cellular and Molecular Endocrinology LIM25, Division of Endocrinology and Metabology, Clinical Hospital of University of São Paulo Medical School (FMUSP), São Paulo, Brazil., Ribeiro-Bicudo LA; Department of Genetics, Institute of Biosciences, Federal University of Goias, Goiânia, Brazil., Kok F, Campagnari F; Deoxi Biotechnology Ltda, Araçatuba, São Paulo, Brazil., de Rosso-Giuliani L; University Hospital Maria Aparecida Pedrossian, Federal University of Mato Grosso Do Sul (HUMAP-UFMS), Campo Grande, Brazil., da Costa SS; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Vianna-Morgante AM; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Pearson PL; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Krepischi ACV; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Rosenberg C; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.; GeneOne, DASA, Brazil.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Aug; Vol. 185 (8), pp. 2335-2344. Date of Electronic Publication: 2021 May 14.

Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation.

Autor: Rivas MP; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Aguiar TFM; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Maschietto M; Research Center, Boldrini Children's Hospital, Campinas, Brazil., Lemes RB; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Caires-Júnior LC; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Goulart E; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Telles-Silva KA; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Novak E; Pediatric Cancer Institute (ITACI) at the Pediatric Department, São Paulo University Medical School, São Paulo, Brazil.; Molecular Genetics-São Paulo's Blood Center, São Paulo, Brazil., Cristofani LM; Pediatric Cancer Institute (ITACI) at the Pediatric Department, São Paulo University Medical School, São Paulo, Brazil., Odone V; Pediatric Cancer Institute (ITACI) at the Pediatric Department, São Paulo University Medical School, São Paulo, Brazil., Cypriano M; Department of Pediatric, Adolescent and Child with Cancer Support Group (GRAACC), Federal University of São Paulo, São Paulo, Brazil., de Toledo SRC; Department of Pediatric, Adolescent and Child with Cancer Support Group (GRAACC), Federal University of São Paulo, São Paulo, Brazil., Carraro DM; International Center for Research, A.C. Camargo Cancer Center, São Paulo, Brazil., Escobar MQ; Department of Organic Chemistry, Institute of Chemistry, University of Campinas, Campinas, Brazil., Lee H; Department of Surgery, Division of General and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Johnston M; Department of Surgery, Division of General and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., da Costa CML; Department of Pediatric Oncology, A.C. Camargo Cancer Center, São Paulo, Brazil., da Cunha IW; Department of Pathology, Rede D'OR São Luiz, São Paulo, Brazil.; Department of Pathology, A.C. Camargo Cancer Center, São Paulo, Brazil., Tasic L; Department of Organic Chemistry, Institute of Chemistry, University of Campinas, Campinas, Brazil., Pearson PL; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Rosenberg C; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Timchenko N; Department of Surgery, Division of General and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Krepischi ACV; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.

Publikováno v: Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine [Tumour Biol] 2020 Dec; Vol. 42 (12), pp. 1010428320977124.

Rapid N-acetyltransferase 2 imputed phenotype and smoking may increase risk of colorectal cancer in women (Netherlands)

Autor: van der Hel, OL, de Mesquita, HBB, Sandkuijl, L, van Noord, PAH, Pearson, PL, Grobbee, DE, Peeters, PHM

Publikováno v: Cancer causes & control, 14(3), 293-298. SPRINGER

Objective: The relationship between smoking and colorectal cancer risk and whether such effect is modified by variations in the NAT2 genotype is investigated. Methods: In the prospective DOM (Diagnostisch Onderzoek Mammacarcinoom; 27,722 women) cohor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::dbda7851fc0165ae684fd9fdf6ce7b95
https://research.rug.nl/en/publications/22d7b213-aa65-49ba-ad64-cdaf710df66b

Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion.

Autor: Dos Santos A; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, Sao Paulo, SP, 05508-090, Brazil., Campagnari F; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, Sao Paulo, SP, 05508-090, Brazil., Krepischi ACV; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, Sao Paulo, SP, 05508-090, Brazil., Ribeiro Câmara ML; Center of Odontological Assistance to Patients with Special Needs, Faculty of Odontology, São Paulo State University, Rodovia Marechal Rondon km 528, Aracatuba, SP, 16018-395, Brazil., de Arruda Brasil RCE; Center of Odontological Assistance to Patients with Special Needs, Faculty of Odontology, São Paulo State University, Rodovia Marechal Rondon km 528, Aracatuba, SP, 16018-395, Brazil., Vieira L; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, Sao Paulo, SP, 05508-090, Brazil., Vianna-Morgante AM; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, Sao Paulo, SP, 05508-090, Brazil., Otto PA; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, Sao Paulo, SP, 05508-090, Brazil., Pearson PL; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, Sao Paulo, SP, 05508-090, Brazil., Rosenberg C; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, Sao Paulo, SP, 05508-090, Brazil. carlarosenberg@uol.com.br.

Publikováno v: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology [Chromosome Res] 2018 Sep; Vol. 26 (3), pp. 191-198. Date of Electronic Publication: 2018 May 12.