Sonographically Detected Hepatic Portal Venous Gas - Prevalence, Causes, and Clinical Implications.

Autor: Mehl L; Internal Medicine, Albertinen Hospital, Hamburg, Germany., Schmidt C; Internal Medicine, Albertinen Hospital, Hamburg, Germany., Weidner U; Institute for Radiology, Albertinen Hospital, Hamburg, Germany., Lock G; Internal Medicine, Albertinen Hospital, Hamburg, Germany.

Publikováno v: Ultraschall in der Medizin (Stuttgart, Germany : 1980) [Ultraschall Med] 2023 Aug; Vol. 44 (4), pp. 408-413. Date of Electronic Publication: 2022 Apr 28.

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P211 Intravenous and intrathecal onasemnogene abeparvovec gene therapy in symptomatic and presymptomatic spinal muscular atrophy (SMA): long-term follow-up study

Autor: Darras, B., Mercuri, E., Strauss, K., Day, J., Chien, Y., Masson, R., Wigderson, M., Alecu, I., Ballarini, N., Mehl, L., Marra, J., Connolly, A.

Publikováno v: In Neuromuscular Disorders October 2023 33 Supplement 1:S87-S87

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A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR.

Autor: Xu M; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Mehl L; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Zhang T; Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Thakur R; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Sowards H; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Myers T; Laboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Jessop L; Laboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Chesi A; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Johnson ME; Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Wells AD; Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Michael HT; Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA., Bunda P; Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA., Jones K; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Higson H; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Hennessey RC; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Jermusyk A; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Kovacs MA; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Landi MT; Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Iles MM; Leeds Institute of Medical Research at St. James's, University of Leeds, Leeds LS2 9NL, UK; Leeds Institute for Data Analytics, University of Leeds, Leeds LS2 9NL, UK., Goldstein AM; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Choi J; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Chanock SJ; Laboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA., Grant SFA; Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Chari R; Genome Modification Core, Frederick National Lab for Cancer Research, National Cancer Institute, Frederick, MD 21701, USA., Merlino G; Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA., Law MH; Statistical Genetics Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia; School of Biomedical Sciences, Faculty of Health, and Institute of Health and Biomedical Innovation, Queensland University of Technology, 60 Musk Avenue, Kelvin Grove, QLD 4059, Australia., Brown KM; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA. Electronic address: kevin.brown3@nih.gov.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2021 Sep 02; Vol. 108 (9), pp. 1611-1630. Date of Electronic Publication: 2021 Aug 02.