Search Results - "Potjer TP"

An Unexpected Case of Somatic Mosaicism of the Dutch p16-Leiden Founder Variant in the CDKN2A Gene.

Authors: van der Meulen M van Wezel JT Terlouw D et al.

Source: Case reports in genetics [Case Rep Genet] 2025 Aug 28; Vol. 2025, pp. 6261903. Date of Electronic Publication: 2025 Aug 28 (Print Publication: 2025).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101583302 Publication Model: eCollection Cited Medium: Print ISSN: 2090-6544 (Print) Linking ISSN: 20906552 NLM ISO Abbreviation: Case Rep Genet Subsets: In Process

Successful Treatment of Unresectable BRCA1 L63*-Mutated Basal Cell Carcinoma Invading the Parietal Bone with Cisplatin and Fluorouracil: A Case Report.

Authors: Yoshida-Akai, Saaya Fujimura, Taku Amagai, Ryo et al.

Source: Case Reports in Oncology. Sep2024, Vol. 17 Issue 1, p1050-1054. 5p. 3 Illustrations.

The Added Value of Blood Glucose Monitoring in High-Risk Individuals Undergoing Pancreatic Cancer Surveillance.

Authors: Bogdanski AM Onnekink AM Inderson A et al.

Source: Pancreas [Pancreas] 2024 Aug 01; Vol. 53 (7), pp. e566-e572. Date of Electronic Publication: 2024 Apr 30.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8608542 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-4828 (Electronic) Linking ISSN: 08853177 NLM ISO Abbreviation: Pancreas Subsets: MEDLINE

Identification of a serum proteomic biomarker panel using diagnosis specific ensemble learning and symptoms for early pancreatic cancer detection.

Authors: Ney, Alexander Nené, Nuno R. Sedlak, Eva et al.

Source: PLoS Computational Biology. 8/29/2024, Vol. 20 Issue 8, p1-27. 27p.

BAP1 genetic testing among melanoma and cancer-prone families in Sweden.

Authors: Helgadottir, Hildur Schultz, Karina Lapins, Jan et al.

Source: Acta Oncologica. Jun2023, Vol. 62 Issue 6, p565-570. 6p. 1 Diagram, 2 Charts.

Identification of patients at risk for pancreatic cancer in a 3-year timeframe based on machine learning algorithms.

Authors: Zhu, Weicheng Chen, Long Aphinyanaphongs, Yindalon et al.

Source: Scientific Reports. 4/5/2025, Vol. 15 Issue 1, p1-11. 11p.

Genotype-phenotype correlations in PMS2 -associated constitutional mismatch repair deficiency: a systematic literature review.

Authors: Munteanu, Cătălin Vasile Lighezan, Diana Luisa Capcelea, Alexandru et al.

Source: Oncology Reviews. 2025, p1-14. 14p.

SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant Carriers.

Authors: de Jong MAM Corssmit EPM Jansen JC et al.

Source: Case reports in otolaryngology [Case Rep Otolaryngol] 2024 Mar 20; Vol. 2024, pp. 2111531. Date of Electronic Publication: 2024 Mar 20 (Print Publication: 2024).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101576603 Publication Model: eCollection Cited Medium: Print ISSN: 2090-6765 (Print) Linking ISSN: 20906773 NLM ISO Abbreviation: Case Rep Otolaryngol Subsets: PubMed not MEDLINE

Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report.

Authors: Hizuka, Keinosuke Hagiwara, Shin-ichiro Maeyama, Takatoshi et al.

Source: BMC Gastroenterology. 2/10/2021, Vol. 21 Issue 1, p1-6. 6p.

The New Tumor Predisposition Syndromes with Neuro-Oncological Relevance-A Comprehensive Review for Neuroradiologists.

Authors: Nafe R Porto L Barnbrock A et al.

Source: Clinical neuroradiology [Clin Neuroradiol] 2026 Jun 22. Date of Electronic Publication: 2026 Jun 22.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Heidelberg Country of Publication: Germany NLM ID: 101526693 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1869-1447 (Electronic) Linking ISSN: 18691439 NLM ISO Abbreviation: Clin Neuroradiol Subsets: MEDLINE

Familial features affecting the melanoma risk in CDKN2A-negative melanoma families: a study based on the Swedish Cancer Registry.

Authors: Helgadottir, Hildur Schultz, Karina Lapins, Jan et al.

Source: Acta Oncologica. Dec2023, Vol. 62 Issue 12, p1967-1972. 6p.

Pancreatic MRI Findings in High-Risk Individuals Compared With Matched Average-Risk Individuals.

Authors: Sanoba SA Shen Y Rasromani E et al.

Source: Pancreas [Pancreas] 2026 Aug 01; Vol. 55 (7), pp. e780-e787. Date of Electronic Publication: 2026 Aug 01.

Publication Type: Journal Article; Comparative Study

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8608542 Publication Model: Electronic Cited Medium: Internet ISSN: 1536-4828 (Electronic) Linking ISSN: 08853177 NLM ISO Abbreviation: Pancreas Subsets: MEDLINE

The emerging role of Fusobacteria in carcinogenesis.

Authors: Gibbs, Raisha J. Chambers, Adam C. Hill, Darryl J.

Source: European Journal of Clinical Investigation. Dec2024 Supplement 1, Vol. 54, p1-18. 18p.

Diagnosis of a case of homozygous constitutional MMR-deficiency by the use of a gene-panel in a non-consanguineous family: A case report.

Authors: Xu, Ming He, Hongsheng Yang, Zengqiang et al.

Source: Biomedical Reports. Mar2020, Vol. 12 Issue 3, p134-138. 5p.

Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.

Authors: Overbeek KA Rodríguez-Girondo MD Wagner A et al.

Source: Journal of medical genetics [J Med Genet] 2021 Apr; Vol. 58 (4), pp. 264-269. Date of Electronic Publication: 2020 Jun 01.

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

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

Deep learning radiomics of dual-energy computed tomography for predicting lymph node metastases of pancreatic ductal adenocarcinoma.

Authors: An, Chao Li, Dongyang Li, Sheng et al.

Source: European Journal of Nuclear Medicine & Molecular Imaging. Mar2022, Vol. 49 Issue 4, p1187-1199. 13p. 1 Color Photograph, 4 Charts, 2 Graphs.

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Authors: Fidalgo, Felipe Torrezan, Giovana Tardin Sá, Bianca Costa Soares de et al.

Source: PLoS ONE. 1/27/2022, Vol. 17 Issue 1, p1-16. 16p.

Multi‐UniFocality (MUF), in contrast to multifocality, in thyroid lesions: Relation to lymphocytic thyroiditis.

Authors: Aydemirli, Mehtap Derya Morreau, Hans

Source: Pathology International. May2024, Vol. 74 Issue 5, p274-284. 11p.

Correction: Putting genome-wide sequencing in neonates into perspective.

Authors: van der Sluijs PJ Aten E Barge-Schaapveld DQCM et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Sep; Vol. 21 (9), pp. 2159-2164.

Publication Type: Published Erratum

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; PubMed not MEDLINE

CDKN2A genetic testing in melanoma-prone families in Sweden in the years 2015–2020: implications for novel national recommendations.

Authors: Pissa, Maria Helkkula, Teo Appelqvist, Frida et al.

Source: Acta Oncologica. Jul2021, Vol. 60 Issue 7, p888-896. 9p. 5 Charts, 1 Map.