Suchergebnisse - "Medical Genetics and Genomics"

Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study

Autoren: Tesi, Bianca Robelius, Anna Baskin, Berivan et al.

Weitere Verfasser: Tesi, Bianca Robelius, Anna Baskin, Berivan et al.

Quelle: Clinical Cancer Research. 31(14):3062-3071

Schlagwörter: Medical and Health Sciences, Clinical Medicine, Cancer and Oncology, Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi), Hematology, Hematologi

Zugangs-URL: https://doi.org/10.1158/1078-0432.CCR-24-4251

Endothelial Cell pY397-FAK Expression Predicts the Risk of Breast Cancer Recurrences after Radiotherapy in the SweBCG91-RT Cohort

Autoren: Drake, Rebecca J.G. Landén, Amalia H. Holmberg, Erik et al.

Weitere Verfasser: Drake, Rebecca J.G. Landén, Amalia H. Holmberg, Erik et al.

Quelle: Clinical Cancer Research. 31(7):1323-1332

Schlagwörter: Medical and Health Sciences, Clinical Medicine, Cancer and Oncology, Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi)

Zugangs-URL: https://doi.org/10.1158/1078-0432.CCR-24-2939

Putative multiple myeloma susceptibility genes identified by exome sequencing of 347 familial and early-onset cases

Autoren: Pertesi, Maroulio Demangel, Delphine Niroula, Abhishek et al.

Weitere Verfasser: Pertesi, Maroulio Demangel, Delphine Niroula, Abhishek et al.

Quelle: Leukemia.

Schlagwörter: Medical and Health Sciences, Clinical Medicine, Hematology, Medicin och hälsovetenskap, Klinisk medicin, Hematologi, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi)

Zugangs-URL: https://doi.org/10.1038/s41375-025-02802-4

The genomic landscape of relapsed infant and childhood KMT2A-rearranged acute leukemia

Autoren: Ahlgren, Louise Pilheden, Mattias Sturesson, Helena et al.

Weitere Verfasser: Ahlgren, Louise Pilheden, Mattias Sturesson, Helena et al.

Quelle: Nature Communications. 16(1)

Schlagwörter: Medical and Health Sciences, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi), Clinical Medicine, Cancer and Oncology, Klinisk medicin, Cancer och onkologi, Pediatrics, Pediatrik

Zugangs-URL: https://doi.org/10.1038/s41467-025-64190-8

Empirically informed symptom severity cutoffs for body dysmorphic disorder

Autoren: Mataix-Cols, David Andersson, Philip Rautio, Daniel et al.

Weitere Verfasser: Mataix-Cols, David Andersson, Philip Rautio, Daniel et al.

Quelle: Journal of Psychiatric Research. 189:382-87

Schlagwörter: Medical and Health Sciences, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi)

Zugangs-URL: https://doi.org/10.1016/j.jpsychires.2025.06.019

Speedy A governs non-homologous XY chromosome desynapsis as a unique prerequisite for XY loop-axis organization

Autoren: Liu, Dongteng Zhang, Yuxiang Li, Dongliang et al.

Weitere Verfasser: Liu, Dongteng Zhang, Yuxiang Li, Dongliang et al.

Quelle: EMBO Journal. 44(19):5509-5536

Schlagwörter: Medical and Health Sciences, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi)

Zugangs-URL: https://doi.org/10.1038/s44318-025-00528-8

Deficiency of Peptidylglycine-alpha-amidating Monooxygenase, a Cause of Sarcopenic Diabetes Mellitus

Autoren: Giontella, Alice Åkerlund, Mikael Bronton, Kevin et al.

Weitere Verfasser: Giontella, Alice Åkerlund, Mikael Bronton, Kevin et al.

Quelle: Journal of Clinical Endocrinology and Metabolism. 110(3):820-829

Schlagwörter: Medical and Health Sciences, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi)

Zugangs-URL: https://doi.org/10.1210/clinem/dgae510

Characterisation of heritable TP53-related cancer syndrome in Sweden—a nationwide study of genotype-phenotype correlations in 90 families

Autoren: Omran, Meis Liu, Yaxuan Sun Zhang, Alexander et al.

Weitere Verfasser: Omran, Meis Liu, Yaxuan Sun Zhang, Alexander et al.

Quelle: European Journal of Human Genetics. 33(4):513-522

Schlagwörter: Medical and Health Sciences, Clinical Medicine, Cancer and Oncology, Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi)

Zugangs-URL: https://doi.org/10.1038/s41431-024-01753-1

Impact of excess sugar on the whole genome DNA methylation pattern in human sperm

Autoren: Jönsson, Josefine Perfilyev, Alexander Kugelberg, Unn et al.

Weitere Verfasser: Jönsson, Josefine Perfilyev, Alexander Kugelberg, Unn et al.

Quelle: Epigenomics. 17(2):89-104

Schlagwörter: Medical and Health Sciences, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi)

Zugangs-URL: https://doi.org/10.1080/17501911.2024.2439782

A burden of rare copy number variants in obsessive-compulsive disorder

Autoren: Halvorsen, Matthew W. de Schipper, Elles Bäckman, Julia et al.

Weitere Verfasser: Halvorsen, Matthew W. de Schipper, Elles Bäckman, Julia et al.

Quelle: Molecular Psychiatry. 30(4):1510-1517

Schlagwörter: Medical and Health Sciences, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi)

Zugangs-URL: https://doi.org/10.1038/s41380-024-02763-7

DNA methylation in cord blood partially mediates the effects of prepregnancy BMI on early childhood offspring BMI

Autoren: Maguolo, Alice Jönsson, Josefine Perfilyev, Alexander et al.

Weitere Verfasser: Maguolo, Alice Jönsson, Josefine Perfilyev, Alexander et al.

Quelle: Obesity. 33(1):177-189

Schlagwörter: Medical and Health Sciences, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi), Clinical Medicine, Pediatrics, Klinisk medicin, Pediatrik

Zugangs-URL: https://doi.org/10.1002/oby.24174

Genetic associations of neuropathic pain and sensory profile in a deeply phenotyped neuropathy cohort

Autoren: Akerlund, Mikael Baskozos, Georgios Li, Wenqianglong et al.

Weitere Verfasser: Akerlund, Mikael Baskozos, Georgios Li, Wenqianglong et al.

Quelle: Pain. 166(6):1354-1368

Schlagwörter: Medical and Health Sciences, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi)

Zugangs-URL: https://doi.org/10.1097/j.pain.0000000000003463

Rare-variant collapsing analyses of asthma in the UK biobank

Autoren: Zöller, Bengt Manderstedt, Eric Lind-Halldén, Christina et al.

Weitere Verfasser: Zöller, Bengt Manderstedt, Eric Lind-Halldén, Christina et al.

Quelle: Respiratory Investigation. 63(5):723-725

Schlagwörter: Medical and Health Sciences (3), Basic Medicine (301), Medical Genetics and Genomics (30107), Medicin och hälsovetenskap (3), Medicinska och farmaceutiska grundvetenskaper (301), Medicinsk genetik och genomik (30107)

Dateibeschreibung: electronic

Zugangs-URL: https://researchportal.hkr.se/ws/files/92147731/1-s2.0-S2212534525000802-main.pdf

Large-Scale Nightmare or Precision Tool for Covert Operations?: An Assessment of the Risks of Genetic Technology in the Near Future

Autoren: Ingesson, Tony Chattopadhyay, Subhayan Gisselsson Nord, David et al.

Weitere Verfasser: Ingesson, Tony Chattopadhyay, Subhayan Gisselsson Nord, David et al.

Quelle: International Journal of Intelligence and Counterintelligence.

Schlagwörter: Social Sciences, Political Science, Samhällsvetenskap, Statsvetenskap, Medical and Health Sciences, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi)

Zugangs-URL: https://doi.org/10.1080/08850607.2025.2531921

Characterizing the allele-specific gene expression landscape in high hyperdiploid acute lymphoblastic leukemia with BASE

Autoren: Andersson, Jonas Aydin, Efe Gunnarsson, Rebeqa et al.

Weitere Verfasser: Andersson, Jonas Aydin, Efe Gunnarsson, Rebeqa et al.

Quelle: Scientific Reports The role of the non-coding genome in pediatric B-cell precursor acute lymphoblastic leukemia. 14:1-10

Schlagwörter: Medical and Health Sciences, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi), Clinical Medicine, Cancer and Oncology, Klinisk medicin, Cancer och onkologi

Zugangs-URL: https://doi.org/10.1038/s41598-024-73743-8

Single-cell genomics details the maturation block in BCP-ALL and identifies therapeutic vulnerabilities in DUX4-r cases

Autoren: Thorsson, Hanna Henningsson, Rasmus Puente-Moncada, Noelia et al.

Weitere Verfasser: Thorsson, Hanna Henningsson, Rasmus Puente-Moncada, Noelia et al.

Quelle: Blood Single-cell Sequencing of Acute Leukemia. 144(13):1399-1411

Schlagwörter: Medical and Health Sciences, Clinical Medicine, Cancer and Oncology, Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi), Hematology, Hematologi

Zugangs-URL: https://doi.org/10.1182/blood.2023021705

The fifth international hackathon for developing computational cloud-based tools and resources for pan-structural variation and genomics

Autoren: Deb, Sontosh K Kalra, Divya Kubica, Jędrzej et al.

Weitere Verfasser: Deb, Sontosh K Kalra, Divya Kubica, Jędrzej et al.

Quelle: F1000Research. 13:1-33

Schlagwörter: Natural Sciences, Biological Sciences, Bioinformatics and Computational Biology, Naturvetenskap, Biologi, Bioinformatik och beräkningsbiologi, Computer and Information Sciences, Bioinformatics (Computational Biology), Data- och informationsvetenskap (Datateknik), Bioinformatik (Beräkningsbiologi), Medical and Health Sciences, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi), Genetics and Genomics, Genetik och genomik

Zugangs-URL: https://doi.org/10.12688/f1000research.148237.1

The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population

Autoren: Lundtoft, Christian Knight, Ann Meadows, Jennifer R S et al.

Weitere Verfasser: Lundtoft, Christian Knight, Ann Meadows, Jennifer R S et al.

Quelle: RMD Open. 10(2):1-10

Schlagwörter: Medical and Health Sciences, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi)

Zugangs-URL: https://doi.org/10.1136/rmdopen-2023-004039

Epigenome-wide association study of objectively measured physical activity in peripheral blood leukocytes

Autoren: Fragoso-Bargas, Nicolas Mcbride, Nancy S Lee-Ødegård, Sindre et al.

Weitere Verfasser: Fragoso-Bargas, Nicolas Mcbride, Nancy S Lee-Ødegård, Sindre et al.

Quelle: BMC Genomics. 26(1)

Schlagwörter: Medical and Health Sciences, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi)

Zugangs-URL: https://doi.org/10.1186/s12864-025-11262-0

Organ Specificity and Commonality of Epigenetic Aging in Low- and High-Running Capacity Rats

Autoren: Kawamura, Takuji Kerepesi, Csaba Sarkar, Juliet Polok et al.

Weitere Verfasser: Kawamura, Takuji Kerepesi, Csaba Sarkar, Juliet Polok et al.

Quelle: Aging Cell. 24(8)

Schlagwörter: Medical and Health Sciences, Basic Medicine, Medical Genetics and Genomics (including Gene Therapy), Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik och genomik (Här ingår: Genterapi)

Zugangs-URL: https://doi.org/10.1111/acel.70110