Mutational analysis of the RB1 gene in patients with unilateral retinoblastoma.

Autor: Yousef YA; Department of Surgery/Ophthalmology, King Hussein Cancer Centre (KHCC), Amman, Jordan., Mohammad M; Department of Surgery/Ophthalmology, King Hussein Cancer Centre (KHCC), Amman, Jordan., Baqain L; Department of Surgery/Ophthalmology, King Hussein Cancer Centre (KHCC), Amman, Jordan., Al-Hussaini M; Department of Cell Therapy and Applied Genomics (CTAG), King Hussein Cancer Centre (KHCC), Amman, Jordan., Shanap MA; Department of Pediatrics Oncology, King Hussein Cancer Centre (KHCC), Amman, Jordan., Halalsheh H; Department of Pediatrics Oncology, King Hussein Cancer Centre (KHCC), Amman, Jordan., Khzouz J; Department of Cell Therapy and Applied Genomics (CTAG), King Hussein Cancer Centre (KHCC), Amman, Jordan., Jaradat I; Department of Radiation Oncology, King Hussein Cancer Centre (KHCC), Amman, Jordan., Mehyar M; Department of Surgery/Ophthalmology, King Hussein Cancer Centre (KHCC), Amman, Jordan., Sultan I; Department of Radiation Oncology, King Hussein Cancer Centre (KHCC), Amman, Jordan., AlNawaiseh I; Department of Surgery/Ophthalmology, King Hussein Cancer Centre (KHCC), Amman, Jordan., Shawagfeh M; Department of Anesthesia, King Hussein Cancer Centre (KHCC), Amman, Jordan.

Publikováno v: Frontiers in medicine [Front Med (Lausanne)] 2024 Aug 21; Vol. 11, pp. 1406215. Date of Electronic Publication: 2024 Aug 21 (Print Publication: 2024).

SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.

Autor: Heeney MM; Division of Hematology, Dana-Farber Boston Children's Cancer and Blood Disorders Center and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Berhe S; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Campagna DR; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Oved JH; Cellular Therapy and Transplant Section, Division of Oncology and Comprehensive Bone Marrow Failure Center, Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, Philadelphia, USA., Kurre P; Pediatric Comprehensive Bone Marrow Failure Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Shaw PJ; BMT Services, Children's Hospital at Westmead; Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia., Teo J; Department of Haematology, Children's Hospital at Westmead, Sydney, New South Wales, Australia., Shanap MA; King Hussein Medical Center, Amman, Jordan., Hassab HM; Department of Paediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt., Glader BE; Division of Hematology-Oncology, Lucille Packard Children's Hospital, Stanford, California, USA., Shah S; Center for Cancer and Blood Disorders, Phoenix Children's Hospital, Phoenix, Arizona, USA., Yoshimi A; Department of Paediatrics and Adolescent Medicine, Division of Paediatric Haematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Ameri A; Division of Pediatric Hematology/Oncology, Department of Pediatrics, Augusta University, Augusta, Georgia, USA., Antin JH; Hematopoietic Stem Cell Transplantation Program, Dana-Farber Cancer Institute, and Harvard Medical School, Boston, Massachusetts, USA., Boudreaux J; Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia, USA., Briones M; Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia, USA., Dickerson KE; Department of Pediatrics, University of Texas Southwestern, Dallas, Texas, USA., Fernandez CV; Division of Hematology-Oncology, IWH Center, Dalhousie University, Halifax, Nova Scotia, Canada., Farah R; Department of Pediatrics, Lebanese American University Medical Center, Beirut, Lebanon., Hasle H; Department of Pediatrics, Aarhus University Hospital, Aarhus University, Aarhus, Denmark., Keel SB; Division of Hematology, University of Washington and Seattle Cancer Care Alliance, Seattle, Washington, USA., Olson TS; Cellular Therapy and Transplant Section, Division of Oncology and Comprehensive Bone Marrow Failure Center, Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Powers JM; Texas Children's Hospital and Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, Houston, Texas, USA., Rose MJ; Division of Hematology & Oncology, Nationwide Children's Hospital, Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA., Shimamura A; Division of Hematology, Dana-Farber Boston Children's Cancer and Blood Disorders Center and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Bottomley SS; Hematology-Oncology Section, University of Oklahoma College of Medicine, Oklahoma City, Oklahoma, USA., Fleming MD; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

Publikováno v: Human mutation [Hum Mutat] 2021 Nov; Vol. 42 (11), pp. 1367-1383. Date of Electronic Publication: 2021 Aug 05.