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NUP188Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?

Autor: Sandestig, Anna, Engström, Karolina, Pepler, Alexander, Danielsson, Ingela, Odelberg-Johnsson, Per, Biskup, Saskia, Holz, Anja, Stefanova, Margarita

Publikováno v: Molecular Syndromology; January 2020, Vol. 10 Issue: 6 p313-319, 7p

Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change Two Novel Mutations and Literature Review

Autor: Sandestig, Anna, Green, Anna, Jonasson, Jon, Vogt, Hartmut, Wahlström, Johan, Pepler, Alexander, Ellnebo, Katarina, Biskup, Saskia, Stefanova, Margarita

Publikováno v: Molecular Syndromology; January 2019, Vol. 9 Issue: 5 p259-265, 7p

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.

Autor: Eisfeldt J; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, 171 76 Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, 171 65 Solna, Sweden., Ameur A; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, 752 37 Uppsala, Sweden., Lenner F; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, 752 37 Uppsala, Sweden., Ten Berk de Boer E; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, 171 76 Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, 171 65 Solna, Sweden., Ek M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, 171 76 Stockholm, Sweden., Wincent J; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, 171 76 Stockholm, Sweden., Vaz R; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden., Ottosson J; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, 413 90 Gothenburg, Sweden., Jonson T; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, 221 84 Lund, Sweden.; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, 223 62 Lund, Sweden., Ivarsson S; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, 221 84 Lund, Sweden.; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, 223 62 Lund, Sweden., Thunström S; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, 413 90 Gothenburg, Sweden., Topa A; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, 413 90 Gothenburg, Sweden., Stenberg S; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, 413 90 Gothenburg, Sweden., Rohlin A; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, 413 90 Gothenburg, Sweden.; Department of Laboratory Medicine, Institute for Biomedicine, Sahlgrenska Academy, University of Gothenburg, 405 30 Gothenburg, Sweden., Sandestig A; Department of Clinical Genetics, Linköping University Hospital, 581 85 Linköping, Sweden., Nordling M; Department of Clinical Genetics, Linköping University Hospital, 581 85 Linköping, Sweden.; Division of Cell and Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, 581 83 Linköping, Sweden., Palmebäck P; Department of Clinical Genetics, Linköping University Hospital, 581 85 Linköping, Sweden., Burstedt M; Department of Medical Bioscience, Medical and Clinical Genetics, Umeå University, 901 87 Umeå, Sweden., Nordin F; Department of Pharmacology and Clinical Neurosciences, Umeå University, 901 87 Umeå, Sweden., Stattin EL; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden., Sobol M; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden., Baliakas P; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, 752 37 Uppsala, Sweden., Bondeson ML; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, 752 37 Uppsala, Sweden., Höijer I; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, 752 37 Uppsala, Sweden., Saether KB; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, 171 65 Solna, Sweden., Lovmar L; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, 413 90 Gothenburg, Sweden., Ehrencrona H; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, 221 84 Lund, Sweden.; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, 223 62 Lund, Sweden., Melin M; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, 752 37 Uppsala, Sweden., Feuk L; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden; anna.lindstrand@ki.se lars.feuk@igp.uu.se.; Science for Life Laboratory, Uppsala University, 752 37 Uppsala, Sweden., Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden; anna.lindstrand@ki.se lars.feuk@igp.uu.se.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, 171 76 Stockholm, Sweden.

Publikováno v: Genome research [Genome Res] 2024 Nov 20; Vol. 34 (11), pp. 1774-1784. Date of Electronic Publication: 2024 Nov 20.

NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?

Autor: Sandestig A; Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden., Engström K; Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden., Pepler A; CeGaT GmbH, and Praxis für Humangenetik, Tübingen, Germany., Danielsson I; Department of Neonatology, Linköping University Hospital, Linköping, Sweden., Odelberg-Johnsson P; Department of Neonatology, Linköping University Hospital, Linköping, Sweden., Biskup S; CeGaT GmbH, and Praxis für Humangenetik, Tübingen, Germany., Holz A; CeGaT GmbH, and Praxis für Humangenetik, Tübingen, Germany., Stefanova M; Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden.

Publikováno v: Molecular syndromology [Mol Syndromol] 2020 Jan; Vol. 10 (6), pp. 313-319. Date of Electronic Publication: 2019 Dec 10.