Suchergebnisse - "genetic screening"

Deciphering the context of cancer cell dependency on p38a MAPK

Autoren: Radic, Nevenka

Weitere Verfasser: University/Department: Universitat de Barcelona. Facultat de Medicina i Ciències de la Salut

Thesis Advisors: Rodríguez Nebreda, Ángel, Fabregat Romero, Isabel

Quelle: TDX (Tesis Doctorals en Xarxa)

Schlagwörter: Citologia, Citología, Cytology, Cribratge genètic, Despistaje genético, Genetic screening, Cultius cel·lulars humans, Cultivos celulares humanos, Human cell culture, Ciències de la Salut

Dateibeschreibung: application/pdf

Zugangs-URL: http://hdl.handle.net/10803/694923

Enjeux individuels et collectifs autour de l’évaluation des risques de cancer par l’oncogénétique prédictive

Autoren: Burton-Jeangros, Claudine Aceti, Monica O. Chappuis, Pierre et al.

Quelle: Santé Publique. 2025, vol. 37(3), p. 9-18.

Verfügbarkeit: https://stm.cairn.info/revue-sante-publique-2025-3-page-9?lang=fr

Genomic findings with familial implications: agenda setting in light of mainstreaming

Autoren: Phillips, Amicia Van Steijvoort, Eva Siermann, Maria et al.

Quelle: Open Research Europe. 5

Schlagwörter: cascade screening, Family communication, genetic counseling, genetic risk, genetic screening, personalized prevention, policy

Dateibeschreibung: print

Zugangs-URL: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-238099
https://doi.org/10.12688/openreseurope.19128.1

Optimizing Pregnancy Outcomes: The Role of Gynecologists in Preconceptional Care in Italy

Autoren: Herbert Valensise Cristina Banzi Cecilia Bonin et al.

Quelle: Int J Womens Health
International Journal of Women's Health, Vol Volume 17, Iss Issue 1, Pp 1897-1909 (2025)

Schlagwörter: disease screening, recommendations, RG1-991, Supplements, genetic screening, Gynecology and obstetrics, Expert Opinion, woman's health

Zugangs-URL: https://doaj.org/article/2f9b6cb67b50441cafcaf1e7e46eeaf3

Caracterización clínica y molecular del síndrome de Rett: elucidar los casos no resueltos

Autoren: Vidal Falcó, Silvia

Weitere Verfasser: University/Department: Universitat de Barcelona. Departament de Genètica

Thesis Advisors: Armstrong i Morón, Judith, Grinberg Vaisman, Daniel Raúl

Quelle: TDX (Tesis Doctorals en Xarxa)

Schlagwörter: Síndrome de Rett, Rett syndrome, Trastorns de l'espectre autista, Trastornos del espectro autista, Autism spectrum disorders, Cribratge genètic, Despistaje genético, Genetic screening, Genètica mèdica, Genética médica, Medical genetics, Ciències Experimentals i Matemàtiques

Dateibeschreibung: application/pdf

Zugangs-URL: http://hdl.handle.net/10803/674033

The genetic landscape of congenital heart disease in pediatrics: From molecular insights to emerging therapies

Autoren: Shehata, Ahmed Eid Zarif Hamed, Mohamed Hani Labib Ahmed, Mohamed Mahmoud Korany et al.

Quelle: International Journal of Science and Research Archive. 15:1224-1228

Schlagwörter: CHD7, GATA4, NKX2-5, Gene therapy, Pediatric cardiology, Genetic screening, CRISPR-Cas9, TBX5, Congenital heart disease, Genetic mutations

Hereditary Dilated Cardiomyopathy: A Case Report

Autoren: Anna A. Zelinska Tetiana V. Savchuk

Quelle: Український журнал серцево-судинної хірургії, Vol 33, Iss 2, Pp 89-96 (2025)

Schlagwörter: RD1-811, left ventricle, endocardial fibroelastosis, myocardium, cardiomyocytes, pathology, Surgery, genetic screening

Zugangs-URL: https://doaj.org/article/43bed06a1d144b85bbf6c5752762ee83

European Association of Urology Guidelines on Upper Urinary Tract Urothelial Carcinoma: Summary of the 2025 Update

Autoren: Masson-Lecomte, Alexandra Birtle, Alison Pradere, Benjamin et al.

Quelle: European Urology. 87:697-716

Schlagwörter: (Neo)adjuvant therapy, Chemotherapy, Genetic screening, Immunotherapy, Management, Prognostic factors, Renal pelvis, Surgery, Ureter, Urothelial carcinoma

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/40118741

Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study

Autoren: Pei-Hsuan Lin Yu-Ting Chiang Cheng-Yu Tsai et al.

Quelle: Clin Exp Otorhinolaryngol
Clinical and Experimental Otorhinolaryngology, Vol 18, Iss 2, Pp 152-161 (2025)

Schlagwörter: sensorineural hearing impairment, Otorhinolaryngology, RF1-547, newborn screening, Medicine, Original Article, genetic screening

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39948052
https://doaj.org/article/3435917105c344e498b3c710ffc0f46c

Timely germline BRCA testing after invasive breast cancer promotes contralateral risk-reducing mastectomy and improves survival: an observational retrospective study: an observational retrospective study

Autoren: Aleksandar M. Kostov Maj-Britt Jensen Bent Ejlertsen et al.

Quelle: Breast Cancer Res Treat
Kostov, A M, Jensen, M-B, Ejlertsen, B, Thomassen, M, Rossing, M, Pedersen, I S, Petersen, A H, Christensen, L L, Wadt, K A W, Berrocal-Almanza, L C, Miranda, M & Lænkholm, A-V 2025, ' Timely germline BRCA testing after invasive breast cancer promotes contralateral risk-reducing mastectomy and improves survival : an observational retrospective study ', Breast Cancer Research and Treatment, vol. 212, no. 2, pp. 309-323 . https://doi.org/10.1007/s10549-025-07726-2
Kostov, A M, Jensen, M B, Ejlertsen, B, Thomassen, M, Rossing, M, Pedersen, I S, Petersen, A H, Christensen, L L, Wadt, K A W, Berrocal-Almanza, L C, Miranda, M & Lænkholm, A V 2025, 'Timely germline BRCA testing after invasive breast cancer promotes contralateral risk-reducing mastectomy and improves survival : an observational retrospective study', Breast Cancer Research and Treatment, vol. 212, no. 2, e220631, pp. 309-323. https://doi.org/10.1007/s10549-025-07726-2

Schlagwörter: Research, Genetic screening, Contralateral mastectomy, Danish breast cancer cooperative group, Risk-reducing surgery, Hereditary breast cancer

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/40408052
https://curis.ku.dk/ws/files/452217180/s10549-025-07726-2_1_.pdf
https://pure.au.dk/portal/en/publications/c0cbf191-4594-4647-bfd0-26fb42784529
https://doi.org/10.1007/s10549-025-07726-2
http://www.scopus.com/inward/record.url?scp=105005782106&partnerID=8YFLogxK

Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries

Autoren: Pablo Alonso-Castellano Antonio Tugores Zoe Mariño et al.

Weitere Verfasser: Pablo Alonso-Castellano Antonio Tugores Zoe Mariño et al.

Quelle: DIGESTIVE AND LIVER DISEASE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Digestive And Liver Disease [ISSN 1590-8658], v. 57 (2), p. 443-449, (Febrero 2025)
accedaCRIS portal de investigación de la Universidad de las Palmas de Gran Canaria
instname

Schlagwörter: Genotype-phenotype correlation, Phenotype, Rare Liver Disease, Genotype, Genetic Screening, Diagnosis, Genotype-Phenotype Correlation, Genetic screening, Misdiagnosis, 241403 Metabolismo bacteriano, Rare liver disease, Gene

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39322449
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=21576
http://hdl.handle.net/10553/136258

Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger

Autoren: Jeff Granhøj Mads M. Aagaard Katja V. Pedersen et al.

Quelle: Kidney International Reports, Vol 10, Iss 11, Pp 3984-3997 (2025)

Schlagwörter: genetic screening, kidney failure, whole-genome sequencing, Diseases of the genitourinary system. Urology, RC870-923

Dateibeschreibung: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2468024925005558; https://doaj.org/toc/2468-0249

Zugangs-URL: https://doaj.org/article/8c78dd7f32c843c6be915a7e503e7d71

Advancements in prenatal diagnostics and the effects of EU regulatory frameworks, including the IVDR and MDR: A systematic review

Autoren: Ravi Adusumalli Rajkiran Reddy Banala

Quelle: Egyptian Journal of Medical Human Genetics, Vol 26, Iss 1, Pp 1-40 (2025)

Schlagwörter: Prenatal diagnostics, Non-invasive prenatal testing [NIPT], Genetic screening, Congenital anomalies, Maternal–fetal medicine, In Vitro Diagnostic Regulation [IVDR], Medicine (General), R5-920, Genetics, QH426-470

Dateibeschreibung: electronic resource

Relation: https://doaj.org/toc/2090-2441

Zugangs-URL: https://doaj.org/article/2eacd7f25db547d19bd4fb9311f85b5d

Insulinoma: A Novel Presentation of Multiple Endocrine Neoplasia 4

Autoren: Hye Jeong Han Jacob Moalem Angela R. Shih et al.

Quelle: AACE Clin Case Rep
AACE Clinical Case Reports, Vol 11, Iss 2, Pp 93-97 (2025)

Schlagwörter: hyperparathyroidism, MEN4, CDKN1B, Case Report, genetic screening, insulinoma, RC648-665, Diseases of the endocrine glands. Clinical endocrinology

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/40201470
https://doaj.org/article/f69cdf0dbcca46409829630fefc9455d

Exertional Syncope in a 6-Year-Old Boy

Autoren: Hamayel, Duhah Loftus, Mary Rose Gamboa, David

Quelle: Pediatrics in Review. 46:119-122

Schlagwörter: cardiac arrhythmia, catecholaminergic polymorphic ventricular tachycardia, exercise stress test, effort syncope, Cardiology, genetic screening, heart, Advocate Pediatric Cardiology Faculty - Oak Lawn, seizures, Pediatric and Adolescent Medicine

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

Autoren: Spier, I. Yin, X. Richardson, M. et al.

Weitere Verfasser: Spier, I. Yin, X. Richardson, M. et al.

Quelle: Genetics in Medicine. 26(2)

Schlagwörter: ACMG/AMP variant classification guidelines, Adenomatous polyposis coli (APC), ClinGen, Familial adenomatous polyposis (FAP), InSiGHT, Adenomatous Polyposis Coli, Genetic Testing, Genetic Variation, Germ Cells, Germ-Line Mutation, Humans, APC protein, bone morphogenetic protein receptor 1A, DNA glycosylase MutY, protein kinase LKB1, Smad4 protein, APC gene, Article, BMPR1A gene, cancer classification, computer model, controlled study, familial adenomatous polyposis, gene, gene frequency, gene function, gene identification, genetic association, genetic variability, germline mutation, hereditary colorectal cancer, human, human tissue, loss of function mutation, missense mutation, mutational analysis, MUTYH gene, POLD1 gene, POLE gene, predictive value, SMAD4 gene, STK11 gene, colon polyposis, genetic screening, genetics, germ cell, procedures

Dateibeschreibung: electronic

Zugangs-URL: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-211878
https://doi.org/10.1016/j.gim.2023.100992

A Large-Scale Genome-Wide Gene-Gene Interaction Study of Lung Cancer Susceptibility in Europeans With a Trans-Ethnic Validation in Asians

Autoren: Zhang, Ruyang Shen, Sipeng Wei, Yongyue et al.

Quelle: Journal of Thoracic Oncology. 17(8):974-990

Schlagwörter: Cancer risk, Gene-gene interaction, Genetic screening model, GWAS, Lung cancer, Single nucleotide polymorphism

Dateibeschreibung: electronic

Zugangs-URL: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-203216
https://doi.org/10.1016/j.jtho.2022.04.011

The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis

Autoren: Salmon, Kristiana Kiernan, Matthew C. Kim, Seung H. et al.

Quelle: Brain. 145(4):1207-1210

Schlagwörter: amyotrophic lateral sclerosis, genetic screening, sporadic

Dateibeschreibung: electronic

Zugangs-URL: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-203235
https://doi.org/10.1093/brain/awab472

Genomic Medicine: Applications in Disease Prevention and Treatment

Autoren: Harshkumar N. Patel Nilam Hardik Patel Sanket Mathukiya et al.

Quelle: J Pharm Bioallied Sci
Journal of Pharmacy and Bioallied Sciences, Vol 17, Iss Suppl 2, Pp S1101-S1103 (2025)

Schlagwörter: personalized therapy, pharmacogenomics, QD71-142, gene editing, precision medicine, disease prevention, genetic screening, Review Article, molecular diagnostics, RS1-441, crispr-cas9, genomic medicine, Pharmacy and materia medica, Analytical chemistry

Zugangs-URL: https://doaj.org/article/9370903b3239488992677bd8c96a9648

Delphinidin upregulates microRNA-let-7b expression through family with sequence similarity 222 member B

Autoren: Motoki Murata Yuki Marugame Shuhei Yamada et al.

Quelle: Scientific Reports, Vol 15, Iss 1, Pp 1-11 (2025)

Schlagwörter: Anthocyanidin, MicroRNA, Genetic screening, Fam222B, Medicine, Science

Dateibeschreibung: electronic resource

Relation: https://doaj.org/toc/2045-2322

Zugangs-URL: https://doaj.org/article/10ce5e27ff49455d823dcd359a9ca1cc