Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.

Autor: Petek, E., Jenne, D.E., Smolle, J., Binder, B., Lasinger, W., Windpassinger, C., Wagner, K., Kroisel, P.M., Kehrer-Sawatzki, H.

Publikováno v: Journal of Medical Genetics; Jul2003, Vol. 40 Issue 7, p520-525, 6p, 1 Color Photograph, 3 Diagrams, 1 Chart, 1 Graph

EVI2B Is a Prognostic Biomarker and Is Correlated with Monocyte and Macrophage Infiltration in Osteosarcoma Based on an Integrative Analysis.

Autor: Dai, Zhenlin^1,2 (AUTHOR), Liu, Zheqi^1,2 (AUTHOR), Yang, Rong^1,2 (AUTHOR), Cao, Wei^1,2 (AUTHOR) caowei561521@shsmu.edu.cn, Ji, Tong^1,2 (AUTHOR) caowei561521@shsmu.edu.cn

Publikováno v: Biomolecules (2218-273X). Feb2023, Vol. 13 Issue 2, p327. 17p.

The Value of Immune-Related Genes Signature in Osteosarcoma Based on Weighted Gene Co-expression Network Analysis.

Autor: Wang, Xin¹ (AUTHOR), Gan, Li² (AUTHOR), Ye, Ju³ (AUTHOR), Tang, Mengjie⁴ (AUTHOR), Liu, Wei⁵ (AUTHOR)

Publikováno v: Journal of Immunology Research. 5/15/2021, p1-17. 17p. 1 Color Photograph, 4 Diagrams, 6 Graphs.

Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review.

Autor: Ejerskov, C.¹ (AUTHOR) cecilie@ejerskov.dk, Raundahl, M.¹ (AUTHOR), Gregersen, P. A.^1,2 (AUTHOR), Handrup, M. M.¹ (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 4/14/2021, Vol. 16 Issue 1, p1-9. 9p.

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

Autor: Garzon JP; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Patete A; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Aschbacher-Smith L; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Qu'd D; Alabama College of Osteopathic Medicine, Dothan, Alabama, USA., Kelly-Mancuso G; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Raski CR; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Weisman AG; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Hankins M; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Sawin M; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Kim K; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Drackley A; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Zeid J; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Ophthalmology, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Weaver KN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Saal HM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Charrow J; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Schorry E; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Listernick R; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee, USA.; Le Bonheur Children's Hospital, Memphis, Tennessee, USA.; St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Prada CE; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA.

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 Jul 18, pp. e32095. Date of Electronic Publication: 2024 Jul 18.