Search Results - "Mantere T"

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Authors: Matuozzo, Daniela Talouarn, Estelle Marchal, Astrid et al.

Source: Genome Medicine. 4/24/2023, Vol. 15 Issue 1, p1-25. 25p.

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Authors: El Chehadeh, Salima Heide, Solveig Quélin, Chloé et al.

Source: Genome Medicine. 10/3/2025, Vol. 17 Issue 1, p1-28. 28p.

NTHL1 is a recessive cancer susceptibility gene.

Authors: Nurmi, Anna K. Pelttari, Liisa M. Kiiski, Johanna I. et al.

Source: Scientific Reports. 11/30/2023, Vol. 13 Issue 1, p1-14. 14p.

Tumor Invasive Border Index (TIBI) in colorectal cancer: linking infiltrative morphology to molecular insights.

Authors: Kehusmaa A Härkönen J Li H et al.

Source: The Journal of pathology [J Pathol] 2026 Jun 18. Date of Electronic Publication: 2026 Jun 18.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley And Sons Country of Publication: England NLM ID: 0204634 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-9896 (Electronic) Linking ISSN: 00223417 NLM ISO Abbreviation: J Pathol Subsets: MEDLINE

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

Authors: Cope, Heidi Barseghyan, Hayk Bhattacharya, Surajit et al.

Source: Molecular Genetics & Genomic Medicine. Jul2021, Vol. 9 Issue 7, p1-10. 10p.

Next-generation nephrology: part 1—an aid for genetic and genomic testing in pediatric nephrology.

Authors: Gupta, Asheeta Jayasinghe, Kushani Majmundar, Amar et al.

Source: Pediatric Nephrology. Sep2025, Vol. 40 Issue 9, p2759-2777. 19p.

Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.

Authors: Batlle-Masó L Neveling K Gil-Serrano J et al.

Source: Journal of clinical immunology [J Clin Immunol] 2026 Mar 28; Vol. 46 (1). Date of Electronic Publication: 2026 Mar 28.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

Precision Agriculture Management System and Traceability Architecture in Specialty Coffee Farms in Chiriquí, Panama.

Authors: Cano, Elia E. Justavino-Castillo, Milva Eileen Centeno, Jorge et al.

Source: Applied Sciences (2076-3417); Mar2026, Vol. 16 Issue 5, p2399, 21p

Indoor Localization for 6G Communication Systems Under Single Co-Channel Interference Using a Back Propagation Neural Network with Hybrid Self-Attention.

Authors: Chiu, Chien-Ching Wu, Hung-Yu Chen, Po-Hsiang et al.

Source: Applied Sciences (2076-3417); Mar2026, Vol. 16 Issue 5, p2264, 17p

Population-based study of recurrent DNA damage response gene variants in breast cancer cases.

Authors: Tervasmäki A Kumpula TA Grip M et al.

Source: Breast cancer research and treatment [Breast Cancer Res Treat] 2025 May; Vol. 211 (1), pp. 195-202. Date of Electronic Publication: 2025 Feb 26.

Publication Type: Journal Article

Journal Info: Publisher: Kluwer Academic Country of Publication: Netherlands NLM ID: 8111104 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7217 (Electronic) Linking ISSN: 01676806 NLM ISO Abbreviation: Breast Cancer Res Treat Subsets: MEDLINE

Systematic assessment of COVID-19 host genetics using whole genome sequencing data.

Authors: Schmidt, Axel Casadei, Nicolas Brand, Fabian et al.

Source: PLoS Pathogens. 12/23/2024, Vol. 20 Issue 12, p1-27. 27p.

Urothelium marker UPK2 identifies aggressive colorectal cancers with distinct molecular and histological features.

Authors: Äijälä VK Härkönen J Sirniö P et al.

Source: British journal of cancer [Br J Cancer] 2026 Feb; Vol. 134 (4), pp. 650-661. Date of Electronic Publication: 2025 Dec 11.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group on behalf of Cancer Research UK Country of Publication: England NLM ID: 0370635 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-1827 (Electronic) Linking ISSN: 00070920 NLM ISO Abbreviation: Br J Cancer Subsets: MEDLINE

Complex Chromothripsis-like Features in Plasma Cell Myeloma: A Case Report and Review of the Literature.

Authors: Oentoro, Jaymie Yu, Sonia Murgas, Kevin A. et al.

Source: Diagnostics (2075-4418). May2026, Vol. 16 Issue 9, p1280. 10p.

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

Authors: Butler-Laporte, Guillaume Povysil, Gundula Kosmicki, Jack A. et al.

Source: PLoS Genetics. 11/3/2022, Vol. 18 Issue 11, p1-26. 26p.

Comprehensive characterization of micropapillary colorectal adenocarcinoma.

Authors: Äijälä VK Härkönen J Mantere T et al.

Source: The Journal of pathology [J Pathol] 2025 Apr; Vol. 265 (4), pp. 408-421. Date of Electronic Publication: 2025 Feb 07.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: John Wiley And Sons Country of Publication: England NLM ID: 0204634 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-9896 (Electronic) Linking ISSN: 00223417 NLM ISO Abbreviation: J Pathol Subsets: MEDLINE

Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases.

Authors: Figlioli, Gisella Billaud, Amandine Wang, Qin et al.

Source: Cancers. Jul2023, Vol. 15 Issue 13, p3313. 16p.

Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.

Authors: Turtinen T Isohanni P Anttonen AK et al.

Source: Molecular cytogenetics [Mol Cytogenet] 2025 Dec 07; Vol. 19 (1), pp. 4. Date of Electronic Publication: 2025 Dec 07.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: Electronic Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE

Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.

Authors: Schluth-Bolard C El Khattabi L Rollat-Farnier PA et al.

Source: Journal of medical genetics [J Med Genet] 2025 Nov 21; Vol. 62 (12), pp. 750-757. Date of Electronic Publication: 2025 Nov 21.

Publication Type: Journal Article

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Non-Destructive Early Detection of Drosophila Suzukii Infestation in Sweet Cherries (c.v. Sweet Heart) Based on Innovative Management of Spectrophotometric Multilinear Correlation Models.

Authors: Altieri, Giuseppe Avaei, Mahdi Rashvand Matera, Attilio et al.

Source: Applied Sciences (2076-3417); Jan2025, Vol. 15 Issue 1, p197, 16p

TNF-α exacerbates SARS-CoV-2 infection by stimulating CXCL1 production from macrophages.

Authors: Kobayashi, Moe Kobayashi, Nene Deguchi, Kyoka et al.

Source: PLoS Pathogens. 12/9/2024, Vol. 20 Issue 12, p1-22. 22p.