Beckwith-Wiedemann Syndrome : ScholarlyPaper. [elektronicky zdroj]

Autor: Acton, Q. Ashton

Externí odkaz: Kolekce e-knih KNAV (Registrovani uzivatele: plny text online 5 minut, dalsi pristup na vyzadani. Registered users: full text online 5 minutes, further access on requests.)

(Epi)genotype and Timing of Tongue Reduction Predict Safety and Long-Term Outcomes in Beckwith-Wiedemann Syndrome.

Autor: Wagner CS; From the Divisions of Plastic, Reconstructive, and Oral Surgery., Pontell ME; From the Divisions of Plastic, Reconstructive, and Oral Surgery., Salinero LK; From the Divisions of Plastic, Reconstructive, and Oral Surgery., Barrero CE; From the Divisions of Plastic, Reconstructive, and Oral Surgery., Drust WA; Human Genetics, Children's Hospital of Philadelphia., Demarchis M; Human Genetics, Children's Hospital of Philadelphia., Liao EC; From the Divisions of Plastic, Reconstructive, and Oral Surgery., Kalish JM; Human Genetics, Children's Hospital of Philadelphia.; Departments of Pediatrics.; Genetics, Perelman School of Medicine at the University of Pennsylvania., Taylor JA; From the Divisions of Plastic, Reconstructive, and Oral Surgery.

Publikováno v: Plastic and reconstructive surgery [Plast Reconstr Surg] 2024 Dec 01; Vol. 154 (6), pp. 1269-1277. Date of Electronic Publication: 2023 Oct 03.

Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith-Wiedemann Syndrome and Other Predisposition Syndromes.

Autor: Kalish JM; Division of Human Genetics and the Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Becktell KD; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin., Bougeard G; Department of Genetics, University Rouen Normandie, Inserm U1245, Normandie University, CHU Rouen, Rouen, France., Brodeur GM; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Diller LR; Department of Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts., Doria AS; Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, Toronto, Ontario, Canada., Hansford JR; Michael Rice Centre for Hematology and Oncology, Women's and Children's Hospital, South Australia Health and Medical Research Institute, South Australia ImmunoGENomics Cancer Institute, University of Adelaide, Adelaide, South Australia, Australia., Klein SD; Division of Human Genetics and the Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Kohlmann WK; VA Medical Center, National TeleOncology, Clinical Cancer Genetics Service, Durham VA, University of Utah Huntsman Cancer Institute, Salt Lake City, Utah., Kratz CP; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., MacFarland SP; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Pajtler KW; Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.; Heidelberg Faculty of Medicine, Department of Pediatric Oncology, Hematology, and Immunology, Heidelberg University, Heidelberg University Hospital, Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; National Center for Tumor Diseases (NCT), NCT Heidelberg, a partnership between DKFZ and Heidelberg University Hospital, Heidelberg, Germany., Rednam SP; Division of Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Schienda J; Department of Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts., States LJ; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Department of Radiology, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania., Villani A; Division of Paediatric Haematology and Oncology, Hospital for Sick Children, Toronto, Ontario, Canada., Weksberg R; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada., Zelley K; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Tomlinson GE; Division of Hematology-Oncology, Department of Pediatrics, Greehey Children's Cancer Research Institute, University of Texas Health Science Center at San Antonio, San Antonio, Texas., Brzezinski JJ; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.

Publikováno v: Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2024 Dec 02; Vol. 30 (23), pp. 5260-5269.

First case report of a successful delivery of a healthy boy by preimplantation genetic testing for Beckwith-Wiedemann syndrome.

Autor: Banti M; Embryology Laboratory, Orchid Reproductive and Andrology Services, Dubai, UAE. maria.b@orchid-fertility.com., Kafetzis D; Medical Department, Orchid Reproductive and Andrology Services, Dubai, UAE.

Publikováno v: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2024 Oct; Vol. 41 (10), pp. 2771-2775. Date of Electronic Publication: 2024 Jun 27.

Type 1 Diabetes in a Pediatric Patient With Beckwith-Wiedemann Syndrome.

Autor: Ehsan, Lubaina¹ Berrin.ergun-longmire@wmed.edu, Anz, Reem¹, Asebes, Hannah¹, Nickson, Nikoli², Ergun-Longmire, Berrin¹

Publikováno v: JCEM Case Reports. Jul2024, Vol. 2 Issue 7, p1-4. 4p.