LHRandERbPolymorphism and the Risk of Infertility and Endometriosis

Autor: B Bianco, DM Christofolini, FA Mafra, AMB Souza, ITN Verreschi, CP Barbosa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::48253e9dfca5d8926c3edde867970e41
https://doi.org/10.1210/endo-meetings.2010.part3.p8.p3-356

LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data.

Autor: Fang L; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Kao C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Gonzalez MV; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Mafra FA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Pellegrino da Silva R; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Li M; Department of Biostatistics, Epidemiology and Informatics, University of Pennsylvania, Philadelphia, PA, 19104, USA., Wenzel SS; Institute of Human Genetics, Department for Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria., Wimmer K; Institute of Human Genetics, Department for Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria., Hakonarson H; Department of Pediatrics, University of Pennsylvania, Philadelphia, PA, 19104, USA., Wang K; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. wangk@email.chop.edu.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA. wangk@email.chop.edu.

Publikováno v: Nature communications [Nat Commun] 2019 Dec 06; Vol. 10 (1), pp. 5585. Date of Electronic Publication: 2019 Dec 06.

Incidence of Y-chromosome microdeletions in children whose fathers underwent vasectomy reversal or in vitro fertilization with epididymal sperm aspiration: a case-control study.

Autor: Ghirelli-Filho M; Faculdade de Medicina do ABC, Santo André, SP, Brazil., Marchi PL; Faculdade de Medicina do ABC, Santo André, SP, Brazil., Mafra FA; Faculdade de Medicina do ABC, Santo André, SP, Brazil., Cavalcanti V; Faculdade de Medicina do ABC, Santo André, SP, Brazil., Christofolini DM; Faculdade de Medicina do ABC, Santo André, SP, Brazil., Barbosa CP; Faculdade de Medicina do ABC, Santo André, SP, Brazil., Bianco B; Faculdade de Medicina do ABC, Santo André, SP, Brazil., Glina S; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.

Publikováno v: Einstein (Sao Paulo, Brazil) [Einstein (Sao Paulo)] 2016 Oct-Dec; Vol. 14 (4), pp. 534-540.

Evaluation of the frequency of G-765C polymorphism in the promoter region of the COX-2 gene and its correlation with the expression of this gene in the endometrium of women with endometriosis.

Autor: Cavalcanti V; Department of Collective Health, Faculdade de Medicina do ABC, Human Reproduction and Genetics Center, Avenida Príncipe de Gales, 821, Santo André, SP, 09060-650, Brazil., Ponce TG; Department of Collective Health, Faculdade de Medicina do ABC, Human Reproduction and Genetics Center, Avenida Príncipe de Gales, 821, Santo André, SP, 09060-650, Brazil., Mafra FA; Department of Collective Health, Faculdade de Medicina do ABC, Human Reproduction and Genetics Center, Avenida Príncipe de Gales, 821, Santo André, SP, 09060-650, Brazil., André GM; Department of Collective Health, Faculdade de Medicina do ABC, Human Reproduction and Genetics Center, Avenida Príncipe de Gales, 821, Santo André, SP, 09060-650, Brazil., Christofolini DM; Department of Collective Health, Faculdade de Medicina do ABC, Human Reproduction and Genetics Center, Avenida Príncipe de Gales, 821, Santo André, SP, 09060-650, Brazil., Barbosa CP; Department of Collective Health, Faculdade de Medicina do ABC, Human Reproduction and Genetics Center, Avenida Príncipe de Gales, 821, Santo André, SP, 09060-650, Brazil., Bianco B; Department of Collective Health, Faculdade de Medicina do ABC, Human Reproduction and Genetics Center, Avenida Príncipe de Gales, 821, Santo André, SP, 09060-650, Brazil. bianca.bianco@hotmail.com.

Publikováno v: Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2016 Jan; Vol. 293 (1), pp. 109-115. Date of Electronic Publication: 2015 Jul 08.

Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications.

Autor: Christofolini DM; Department of Gynecology and Obstetrics, Genetics Division, Faculdade de Medicina do ABC - FMABC, São Paulo, Brazil., Piazzon FB; Department of Pathology, Cytogenomics Laboratory, LIM 03, HC-FMUSP, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar 255, São Paulo 05403-000, Brazil., Evo C; Department of Gynecology and Obstetrics, Genetics Division, Faculdade de Medicina do ABC - FMABC, São Paulo, Brazil., Mafra FA; Department of Gynecology and Obstetrics, Genetics Division, Faculdade de Medicina do ABC - FMABC, São Paulo, Brazil., Cosenza SR; Department of Gynecology and Obstetrics, Genetics Division, Faculdade de Medicina do ABC - FMABC, São Paulo, Brazil., Dias AT; Department of Pathology, Cytogenomics Laboratory, LIM 03, HC-FMUSP, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar 255, São Paulo 05403-000, Brazil., Barbosa CP; Department of Gynecology and Obstetrics, Genetics Division, Faculdade de Medicina do ABC - FMABC, São Paulo, Brazil., Bianco B; Department of Gynecology and Obstetrics, Genetics Division, Faculdade de Medicina do ABC - FMABC, São Paulo, Brazil., Kulikowski LD; Department of Pathology, Cytogenomics Laboratory, LIM 03, HC-FMUSP, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar 255, São Paulo 05403-000, Brazil.

Publikováno v: Molecular cytogenetics [Mol Cytogenet] 2014 Apr 24; Vol. 7, pp. 29. Date of Electronic Publication: 2014 Apr 24 (Print Publication: 2014).