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Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.
Klonowska, Katarzyna; Giannikou, Krinio; Grevelink, Joannes M; Boeszoermenyi, Barbara; Thorner, Aaron R; Herbert, Zachary T; Afrin, Antara; Treichel, Alison M; Hamieh, Lana; Kotulska, Katarzyna; Jozwiak, Sergiusz; Moss, Joel; Darling, Thomas N; Kwiatkowski, David J.
Affiliation
  • Klonowska K; Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: kklonowska@bwh.harvard.edu.
  • Giannikou K; Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Hematology/Oncology, Cancer and Blood Disease Institute, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
  • Grevelink JM; Boston Dermatology and Laser Center, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Boeszoermenyi B; Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Thorner AR; Center for Cancer Genomics, Dana-Farber Cancer Institute, Boston, MA 02215, USA.
  • Herbert ZT; Molecular Biology Core Facilities, Dana-Farber Cancer Institute, Boston, MA 02215, USA.
  • Afrin A; Department of Dermatology, Uniformed Services University, Bethesda, MA 20814, USA; Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Treichel AM; Department of Dermatology, Uniformed Services University, Bethesda, MA 20814, USA; Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA; Department of Dermatology, University Hospitals Cleveland Medical Center, Case Western Reserve Unive
  • Hamieh L; Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Hospital Medicine, Barnes Jewish Hospital, Washington University in St Louis, St. Louis, MO 63110, USA.
  • Kotulska K; Department of Neurology and Epileptology, Children's Memorial Health Institute, Warsaw 04-736, Poland.
  • Jozwiak S; Department of Neurology and Epileptology, Children's Memorial Health Institute, Warsaw 04-736, Poland; Research Department, Children's Memorial Health Institute, Warsaw 04-736, Poland.
  • Moss J; Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Darling TN; Department of Dermatology, Uniformed Services University, Bethesda, MA 20814, USA.
  • Kwiatkowski DJ; Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: dk@rics.bwh.harvard.edu.
Am J Hum Genet ; 110(6): 979-988, 2023 06 01.
Article in En | MEDLINE | ID: mdl-37141891
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tuberous Sclerosis / Tumor Suppressor Proteins Limits: Humans Language: En Journal: Am J Hum Genet Year: 2023 Document type: Article Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tuberous Sclerosis / Tumor Suppressor Proteins Limits: Humans Language: En Journal: Am J Hum Genet Year: 2023 Document type: Article Country of publication: