Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS.

Autor: Abu-El-Haija A; Division of Medical Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, USA.; Harvard Medical School, Boston, USA., Dillahunt K; Division of Medical Genetics and Genomics, Department of Pediatrics, University of Iowa, Iowa City, USA., Safina N; Division of Medical Genetics and Genomics, Department of Pediatrics, University of Iowa, Iowa City, USA.; Department of Pediatrics, UI Stead Family Children's Hospital, Iowa City, USA., Aldeeri A; Division of Medical Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, USA.; Harvard Medical School, Boston, USA.; Department of Internal Medicine, King Saud University, Riyadh, Saudi Arabia., Glavan T; Department of Molecular Medicine and Biotechnology, University of Rijeka, Rijeka, Croatia., Mihalek I; Department of Molecular Medicine and Biotechnology, University of Rijeka, Rijeka, Croatia., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63709. Date of Electronic Publication: 2024 May 27.

Interstitial duplication of 20q11.22q13.11: A case report and review of literature.

Autor: Goetzinger L; Carver College of Medicine, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Starks RD; Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Dillahunt K; Division of Medical Genetics and Genomics, The Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Major H; Division of Medical Genetics and Genomics, The Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Nagy JM; Division of Medical Genetics and Genomics, The Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Sidhu A; Division of Medical Genetics and Genomics, The Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Aug; Vol. 9 (8), pp. e1755. Date of Electronic Publication: 2021 Jul 16.

Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report.

Autor: Moon Ley Tung, Chandra, Bharatendu, Dillahunt, Kyle, Gosse, Matthew D., Sato, T. Shawn, Sidhu, Alpa

Publikováno v: Frontiers in Oncology; 7/7/2022, Vol. 12, p1-7, 7p