Suchergebnisse - "DNA Mutational Analysis"

A comparison of sequential polymerase chain reaction-based cascade testing vs next-generation sequencing in molecular profiling of myeloproliferative neoplasms: improving testing strategies in light of evolving molecular landscapes.

Autoren: Liu X Krishnamurthy K Naeem R et al.

Quelle: Laboratory medicine [Lab Med] 2025 Sep 08; Vol. 56 (5), pp. 511-516.

Publikationsart: Journal Article; Comparative Study

Info zur Zeitschrift: Publisher: Oxford University Press Country of Publication: England NLM ID: 0250641 Publication Model: Print Cited Medium: Internet ISSN: 1943-7730 (Electronic) Linking ISSN: 00075027 NLM ISO Abbreviation: Lab Med Subsets: MEDLINE

MeSH-Schlagworte: High-Throughput Nucleotide Sequencing*/instrumentation , High-Throughput Nucleotide Sequencing*/methods , Polymerase Chain Reaction*/instrumentation , Polymerase Chain Reaction*/methods , Myeloproliferative Disorders*/diagnosis , Myeloproliferative Disorders*/genetics , Myeloproliferative Disorders*/pathology , Biomarkers, Tumor*/analysis , Biomarkers, Tumor*/genetics , DNA Mutational Analysis*/instrumentation , DNA Mutational Analysis*/methods, Pilot Projects ; Janus Kinase 2/analysis ; Janus Kinase 2/genetics ; Humans ; Male ; Female ; Middle Aged ; Aged ; Aged, 80 and over

Human Organoids as an Emerging Tool for Genome Screenings.

Autoren: Andreatta F Hendriks D Artegiani B

Quelle: Annual review of biomedical engineering [Annu Rev Biomed Eng] 2025 May; Vol. 27 (1), pp. 157-183.

Publikationsart: Journal Article; Review; Research Support, Non-U.S. Gov't

Info zur Zeitschrift: Publisher: Annual Reviews Country of Publication: United States NLM ID: 100883581 Publication Model: Print Cited Medium: Internet ISSN: 1545-4274 (Electronic) Linking ISSN: 15239829 NLM ISO Abbreviation: Annu Rev Biomed Eng Subsets: MEDLINE

MeSH-Schlagworte: Organoids* , Genome, Human*/genetics , CRISPR-Cas Systems* , Genetic Testing*/methods , DNA Mutational Analysis*/methods, Humans ; Pluripotent Stem Cells ; Gene Editing ; Disease/genetics

Comprehensive genomic profiling can predict response to neoadjuvant chemotherapy in triple-negative breast cancer.

Autoren: Drobniene M Breimelyte D Sadzeviciene I et al.

Quelle: Breast (Edinburgh, Scotland) [Breast] 2025 Apr; Vol. 80, pp. 104423. Date of Electronic Publication: 2025 Feb 17.

Publikationsart: Journal Article; Observational Study

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9213011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-3080 (Electronic) Linking ISSN: 09609776 NLM ISO Abbreviation: Breast Subsets: MEDLINE

MeSH-Schlagworte: Antineoplastic Agents*/therapeutic use , DNA Mutational Analysis*/methods , Genomics* , Neoadjuvant Therapy* , Triple Negative Breast Neoplasms*/drug therapy , Triple Negative Breast Neoplasms*/genetics , Triple Negative Breast Neoplasms*/pathology, Adult ; Aged ; Humans ; Breast/pathology ; Disease Progression ; Prospective Studies

Establishment of a potential reference measurement procedure and reference material for PIK3CA H1047R mutation detection.

Autoren: Wang S Ji H Jia Y et al.

Quelle: Analytical methods : advancing methods and applications [Anal Methods] 2025 Oct 09; Vol. 17 (39), pp. 7910-7919. Date of Electronic Publication: 2025 Oct 09.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: RSC Pub Country of Publication: England NLM ID: 101519733 Publication Model: Electronic Cited Medium: Internet ISSN: 1759-9679 (Electronic) Linking ISSN: 17599660 NLM ISO Abbreviation: Anal Methods Subsets: MEDLINE

MeSH-Schlagworte: Class I Phosphatidylinositol 3-Kinases*/genetics , Mutation*, Humans ; DNA Mutational Analysis/standards ; DNA Mutational Analysis/methods ; Breast Neoplasms/genetics ; Reference Standards ; Polymerase Chain Reaction/methods ; Polymerase Chain Reaction/standards ; Limit of Detection ; Female

Analytical Validation of Blood-Derived Tumor Mutation Burden (bTMB) Assays: A Joint Consensus Recommendation of the BLOODPAC bTMB Analytical Validation Working Group.

Autoren: Baden J Sausen M Anfora AT et al.

Quelle: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2025 Oct; Vol. 27 (10), pp. 914-919.

Publikationsart: Journal Article; Review

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

MeSH-Schlagworte: Neoplasms*/genetics , Neoplasms*/blood , Neoplasms*/diagnosis , Circulating Tumor DNA*/blood , Circulating Tumor DNA*/genetics , Biomarkers, Tumor*/blood , Biomarkers, Tumor*/genetics , Mutation*, Humans ; Reproducibility of Results ; Consensus ; DNA Mutational Analysis/methods ; DNA Mutational Analysis/standards

Longitudinal Comparative Analysis of Circulating Tumor DNA and Matched Tumor Tissue DNA in Patients with Metastatic Colorectal Cancer Receiving Palliative First-Line Systemic Anti-Cancer Therapy.

Autoren: Lee SB Kim JW Kim HG et al.

Quelle: Cancer research and treatment [Cancer Res Treat] 2024 Oct; Vol. 56 (4), pp. 1171-1182. Date of Electronic Publication: 2024 Apr 29.

Publikationsart: Journal Article; Comparative Study

Info zur Zeitschrift: Publisher: Korean Cancer Association Country of Publication: Korea (South) NLM ID: 101155137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2005-9256 (Electronic) Linking ISSN: 15982998 NLM ISO Abbreviation: Cancer Res Treat Subsets: MEDLINE

MeSH-Schlagworte: Circulating Tumor DNA*/genetics , Clonal Evolution*/genetics , Colorectal Neoplasms*/genetics , Colorectal Neoplasms*/mortality , Colorectal Neoplasms*/therapy , DNA Mutational Analysis*/methods , DNA Mutational Analysis*/statistics & numerical data , DNA, Neoplasm*/genetics, Adult ; Aged ; Aged, 80 and over ; Humans ; Male ; Middle Aged ; Antineoplastic Agents/therapeutic use ; Gene Frequency ; High-Throughput Nucleotide Sequencing/methods ; Kaplan-Meier Estimate ; Longitudinal Studies ; Mutation Rate ; Neoplasm Metastasis ; Palliative Care ; Predictive Value of Tests ; Prognosis ; Progression-Free Survival ; Reproducibility of Results ; Female

Characterization of the cell-free DNA released by tumor organoids derived from colorectal cancer patients.

Autoren: Mirandola A Cartry J Bedja S et al.

Quelle: European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2025 Dec 09; Vol. 231, pp. 116097. Date of Electronic Publication: 2025 Nov 05.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Science Ltd Country of Publication: England NLM ID: 9005373 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0852 (Electronic) Linking ISSN: 09598049 NLM ISO Abbreviation: Eur J Cancer Subsets: MEDLINE

MeSH-Schlagworte: Colorectal Neoplasms*/genetics , Colorectal Neoplasms*/pathology , Colorectal Neoplasms*/blood , Organoids*/metabolism , Organoids*/pathology , Cell-Free Nucleic Acids*/genetics , Biomarkers, Tumor*/genetics , Circulating Tumor DNA*/genetics, Humans ; Female ; Male ; Middle Aged ; Aged ; Mutation ; DNA, Mitochondrial/genetics ; DNA Mutational Analysis ; Aged, 80 and over ; Prospective Studies

High Diagnostic Yield of Genetic Screening in Autosomal Dominant Steroid-Resistant Nephrotic Syndrome: Predominance of INF2 and TRPC6 and Identification of a Novel Gene.

Autoren: Azouaou L; Department of Nephrology, Chief of Hemodialysis Unit, CHU Hussein Dey, Algiers, Algeria.; Laboratory of Oxidative Stress, Kidney and Associated Complications Faculty of Medicine Algiers, University of Health Sciences, Algiers, Algeria.

Quelle: Nephrology (Carlton, Vic.) [Nephrology (Carlton)] 2025 Dec; Vol. 30 (12), pp. e70152.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Blackwell Science Country of Publication: Australia NLM ID: 9615568 Publication Model: Print Cited Medium: Internet ISSN: 1440-1797 (Electronic) Linking ISSN: 13205358 NLM ISO Abbreviation: Nephrology (Carlton) Subsets: MEDLINE

MeSH-Schlagworte: TRPC6 Cation Channel*/genetics , Nephrotic Syndrome*/genetics , Nephrotic Syndrome*/diagnosis , Nephrotic Syndrome*/congenital , Genetic Testing*/methods , Mutation*, Humans ; Male ; Female ; Adult ; Child ; Adolescent ; Retrospective Studies ; Phenotype ; Young Adult ; Middle Aged ; Algeria/epidemiology ; Genetic Predisposition to Disease ; Child, Preschool ; Pedigree ; DNA Mutational Analysis ; Genetic Association Studies ; Actinin/genetics ; High-Throughput Nucleotide Sequencing ; Drug Resistance/genetics ; WT1 Proteins/genetics ; Predictive Value of Tests ; Heredity ; Formins

SCR Disease Name: Nephrotic syndrome, idiopathic, steroid-resistant

Renal Tumorigenesis via RAS/RAF/MAPK Pathway Alterations Beyond Papillary Renal Neoplasm With Reverse Polarity.

Autoren: Kwon JW Wang P Wanjari P et al.

Quelle: The American journal of surgical pathology [Am J Surg Pathol] 2025 Dec 01; Vol. 49 (12), pp. 1266-1278. Date of Electronic Publication: 2025 Jun 25.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 7707904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-0979 (Electronic) Linking ISSN: 01475185 NLM ISO Abbreviation: Am J Surg Pathol Subsets: MEDLINE

MeSH-Schlagworte: Kidney Neoplasms*/genetics , Kidney Neoplasms*/pathology , Kidney Neoplasms*/enzymology , Proto-Oncogene Proteins p21(ras)*/genetics , Biomarkers, Tumor*/genetics , Biomarkers, Tumor*/analysis , Mutation* , Carcinoma, Renal Cell*/genetics , Carcinoma, Renal Cell*/pathology , Carcinoma, Renal Cell*/enzymology , MAP Kinase Signaling System*/genetics, Humans ; Proto-Oncogene Proteins c-raf/genetics ; Male ; Female ; Proto-Oncogene Proteins B-raf/genetics ; Middle Aged ; Signal Transduction ; DNA Mutational Analysis ; raf Kinases/genetics ; GTP Phosphohydrolases/genetics ; Aged ; Genetic Predisposition to Disease ; Membrane Proteins

Comparative Performance of a Targeted Next-Generation Sequencing Assay Against Multiplexed Digital PCR Assays in Detecting ERBB2, ESR1, and PIK3CA Mutations in Plasma Circulating Cell-Free DNA from Liquid Biopsies.

Autoren: Corné J Godey F Legros A et al.

Quelle: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2025 Dec; Vol. 27 (12), pp. 1202-1212. Date of Electronic Publication: 2025 Oct 08.

Publikationsart: Journal Article; Comparative Study

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

MeSH-Schlagworte: Class I Phosphatidylinositol 3-Kinases*/genetics , Estrogen Receptor alpha*/genetics , High-Throughput Nucleotide Sequencing*/methods , Mutation* , Receptor, ErbB-2*/genetics , Breast Neoplasms*/genetics , Breast Neoplasms*/blood , Breast Neoplasms*/diagnosis , Breast Neoplasms*/pathology , Multiplex Polymerase Chain Reaction*/methods , Circulating Tumor DNA*/genetics , Circulating Tumor DNA*/blood , Cell-Free Nucleic Acids*/blood , Cell-Free Nucleic Acids*/genetics, Humans ; Liquid Biopsy/methods ; Female ; DNA Mutational Analysis/methods

FGFR1 Mutations Are Rare Alternate Oncogenic Drivers in FOXL2 -Wildtype Adult Granulosa Cell Tumors of the Ovary.

Autoren: Kolin DL Mata DA Lin DI et al.

Quelle: The American journal of surgical pathology [Am J Surg Pathol] 2025 Dec 01; Vol. 49 (12), pp. 1245-1250. Date of Electronic Publication: 2025 Oct 23.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 7707904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-0979 (Electronic) Linking ISSN: 01475185 NLM ISO Abbreviation: Am J Surg Pathol Subsets: MEDLINE

MeSH-Schlagworte: Forkhead Box Protein L2*/genetics , Granulosa Cell Tumor*/genetics , Granulosa Cell Tumor*/pathology , Granulosa Cell Tumor*/chemistry , Granulosa Cell Tumor*/surgery , Mutation* , Ovarian Neoplasms*/genetics , Ovarian Neoplasms*/pathology , Ovarian Neoplasms*/surgery , Ovarian Neoplasms*/chemistry , Receptor, Fibroblast Growth Factor, Type 1*/genetics , Biomarkers, Tumor*/genetics , Biomarkers, Tumor*/analysis, Humans ; Female ; Middle Aged ; Adult ; Aged ; DNA Mutational Analysis ; Phenotype ; Genetic Predisposition to Disease ; Immunohistochemistry

SCR Disease Name: Granulosa cell tumor of the ovary

Immunophenotyping and Mutation Analysis of Canine Intestinal T-Cell Lymphoma: A Comparative Pathological Study of Human Enteropathy-Associated T-Cell Lymphoma.

Autoren: Kojima K Chambers JK Nakashima K et al.

Quelle: Veterinary and comparative oncology [Vet Comp Oncol] 2025 Dec; Vol. 23 (4), pp. 567-579. Date of Electronic Publication: 2025 Aug 28.

Publikationsart: Journal Article; Comparative Study

Info zur Zeitschrift: Publisher: Blackwell Country of Publication: England NLM ID: 101185242 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5829 (Electronic) Linking ISSN: 14765810 NLM ISO Abbreviation: Vet Comp Oncol Subsets: MEDLINE

MeSH-Schlagworte: Dog Diseases*/pathology , Dog Diseases*/genetics , Dog Diseases*/immunology , Enteropathy-Associated T-Cell Lymphoma*/veterinary , Enteropathy-Associated T-Cell Lymphoma*/pathology , Enteropathy-Associated T-Cell Lymphoma*/genetics , Enteropathy-Associated T-Cell Lymphoma*/immunology , Intestinal Neoplasms*/veterinary , Intestinal Neoplasms*/pathology , Intestinal Neoplasms*/genetics , Intestinal Neoplasms*/immunology , Lymphoma, T-Cell*/veterinary , Lymphoma, T-Cell*/pathology , Lymphoma, T-Cell*/genetics, Dogs ; Animals ; Immunophenotyping/veterinary ; Humans ; Male ; Mutation ; Female ; DNA Mutational Analysis/veterinary

Challenges in predicting outcomes for watch and wait follicular lymphoma patients: insights into clinical, pathological, and molecular factors.

Autoren: Hesius EAM Stewart JP Kroeze LI et al.

Quelle: Leukemia & lymphoma [Leuk Lymphoma] 2025 Dec; Vol. 66 (13), pp. 2504-2517. Date of Electronic Publication: 2025 Oct 13.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 9007422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1029-2403 (Electronic) Linking ISSN: 10268022 NLM ISO Abbreviation: Leuk Lymphoma Subsets: MEDLINE

MeSH-Schlagworte: Lymphoma, Follicular*/mortality , Lymphoma, Follicular*/therapy , Lymphoma, Follicular*/genetics , Lymphoma, Follicular*/pathology , Lymphoma, Follicular*/diagnosis , Watchful Waiting* , Biomarkers, Tumor*/genetics, Humans ; Male ; Female ; Middle Aged ; Aged ; Prognosis ; Mutation ; Adult ; Aged, 80 and over ; DNA Mutational Analysis ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Treatment Outcome

Aberrant Cytoplasmic p53 Staining in Oral Squamous Cell Carcinoma and Dysplasia: A Clinicopathologic and Molecular Study.

Autoren: Zhang L Ng T Hoang L et al.

Quelle: The American journal of surgical pathology [Am J Surg Pathol] 2025 Dec 01; Vol. 49 (12), pp. 1216-1224. Date of Electronic Publication: 2025 Sep 16.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 7707904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-0979 (Electronic) Linking ISSN: 01475185 NLM ISO Abbreviation: Am J Surg Pathol Subsets: MEDLINE

MeSH-Schlagworte: Tumor Suppressor Protein p53*/genetics , Tumor Suppressor Protein p53*/analysis , Mouth Neoplasms*/pathology , Mouth Neoplasms*/genetics , Mouth Neoplasms*/chemistry , Biomarkers, Tumor*/genetics , Biomarkers, Tumor*/analysis , Cytoplasm*/chemistry , Cytoplasm*/pathology , Immunohistochemistry* , Squamous Cell Carcinoma of Head and Neck*/pathology , Squamous Cell Carcinoma of Head and Neck*/genetics , Squamous Cell Carcinoma of Head and Neck*/chemistry , Carcinoma, Squamous Cell*/pathology , Carcinoma, Squamous Cell*/genetics , Carcinoma, Squamous Cell*/chemistry, Humans ; Male ; Female ; Middle Aged ; Mutation ; Aged ; DNA Mutational Analysis ; High-Throughput Nucleotide Sequencing ; Predictive Value of Tests ; Pilot Projects ; Adult

Emerging antifungal resistance in Trichophyton mentagrophytes : insights from susceptibility profiling and genetic mutation analysis.

Autoren: Shao Y Shao J de Hoog S et al.

Quelle: Emerging microbes & infections [Emerg Microbes Infect] 2025 Dec; Vol. 14 (1), pp. 2450026. Date of Electronic Publication: 2025 Jan 15.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101594885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2222-1751 (Electronic) Linking ISSN: 22221751 NLM ISO Abbreviation: Emerg Microbes Infect Subsets: MEDLINE

MeSH-Schlagworte: Antifungal Agents*/pharmacology , Drug Resistance, Fungal*/genetics , Tinea*/microbiology , Tinea*/epidemiology , Arthrodermataceae*/drug effects , Arthrodermataceae*/genetics , Arthrodermataceae*/isolation & purification , Trichophyton*/drug effects , Trichophyton*/genetics, Microbial Sensitivity Tests ; Humans ; China/epidemiology ; Terbinafine/pharmacology ; Mutation ; Fungal Proteins/genetics ; DNA Mutational Analysis ; Genetic Variation

SCR Organism: Trichophyton mentagrophytes

SNRNP200- Associated Retinopathy: In-Depth Clinical Phenotyping and Genetic Characterization.

Autoren: Romo-Aguas JC Laich Y Kalitzeos A et al.

Quelle: American journal of ophthalmology [Am J Ophthalmol] 2025 Dec; Vol. 280, pp. 209-220. Date of Electronic Publication: 2025 Aug 16.

Publikationsart: Journal Article; Multicenter Study; Observational Study

Info zur Zeitschrift: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE

MeSH-Schlagworte: Ribonucleoproteins, Small Nuclear*/genetics , Ribonucleoproteins, Small Nuclear*/metabolism , Retinal Diseases*/genetics , Retinal Diseases*/diagnosis , Retinal Diseases*/physiopathology , Mutation*, Humans ; Male ; Adult ; Female ; Retrospective Studies ; Visual Acuity/physiology ; Phenotype ; Electroretinography ; Follow-Up Studies ; Middle Aged ; Tomography, Optical Coherence ; DNA Mutational Analysis ; Fluorescein Angiography

Peripheral Macular Endothelial Dystrophy: Clinical, Histopathologic, Genetic and Functional Characterization.

Autoren: Zhang W Duong H Jongkhajornpong P et al.

Quelle: American journal of ophthalmology [Am J Ophthalmol] 2025 Dec; Vol. 280, pp. 154-168. Date of Electronic Publication: 2025 Aug 11.

Publikationsart: Journal Article; Observational Study

Info zur Zeitschrift: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE

MeSH-Schlagworte: Mutation* , Sulfotransferases*/genetics , Sulfotransferases*/metabolism , Corneal Dystrophies, Hereditary*/genetics , Corneal Dystrophies, Hereditary*/diagnosis, Humans ; Male ; Prospective Studies ; Female ; Middle Aged ; Pedigree ; Adult ; Endothelium, Corneal/pathology ; Endothelium, Corneal/metabolism ; Exome Sequencing ; Carbohydrate Sulfotransferases ; Aged ; DNA Mutational Analysis ; Descemet Stripping Endothelial Keratoplasty ; Promoter Regions, Genetic ; Descemet Membrane/pathology ; Visual Acuity

Mutation profiling in differential diagnosis between TdT-positive high-grade/large B-cell lymphoma and B-lymphoblastic leukaemia/lymphoma.

Autoren: Tzioni MM Cucco F Rásó-Barnett L et al.

Quelle: The Journal of pathology [J Pathol] 2025 Dec; Vol. 267 (4), pp. 410-423. Date of Electronic Publication: 2025 Oct 06.

Publikationsart: Journal Article

Info zur Zeitschrift: 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

MeSH-Schlagworte: Lymphoma, Large B-Cell, Diffuse*/genetics , Lymphoma, Large B-Cell, Diffuse*/diagnosis , Lymphoma, Large B-Cell, Diffuse*/pathology , Lymphoma, Large B-Cell, Diffuse*/enzymology , DNA Nucleotidylexotransferase*/analysis , DNA Nucleotidylexotransferase*/genetics , DNA Nucleotidylexotransferase*/metabolism , Mutation* , Biomarkers, Tumor*/genetics , Biomarkers, Tumor*/analysis , Precursor Cell Lymphoblastic Leukemia-Lymphoma*/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma*/diagnosis , Precursor Cell Lymphoblastic Leukemia-Lymphoma*/pathology , Precursor Cell Lymphoblastic Leukemia-Lymphoma*/enzymology, Humans ; Diagnosis, Differential ; Female ; Male ; Aged ; Middle Aged ; Adult ; DNA Mutational Analysis ; Aged, 80 and over ; Proto-Oncogene Proteins c-bcl-2/genetics ; Young Adult ; Adolescent ; Proto-Oncogene Proteins c-myc/genetics

Unraveling the genetic basis of post-infancy diagnosed sensorineural hearing loss using whole exome sequencing.

Autoren: Li W Yu S Zhu B et al.

Quelle: Hearing research [Hear Res] 2025 Dec; Vol. 468, pp. 109455. Date of Electronic Publication: 2025 Oct 16.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier/North-Holland Biomedical Press Country of Publication: Netherlands NLM ID: 7900445 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5891 (Electronic) Linking ISSN: 03785955 NLM ISO Abbreviation: Hear Res Subsets: MEDLINE

MeSH-Schlagworte: Hearing Loss, Sensorineural*/genetics , Hearing Loss, Sensorineural*/diagnosis , Hearing Loss, Sensorineural*/physiopathology , Exome Sequencing* , Mutation* , Hearing*/genetics, Humans ; Male ; Child ; Female ; Child, Preschool ; Adolescent ; Adult ; Middle Aged ; Young Adult ; Infant ; Connexin 26/genetics ; Genetic Predisposition to Disease ; Retrospective Studies ; Phenotype ; China/epidemiology ; Sulfate Transporters/genetics ; DNA Mutational Analysis ; Age of Onset

First Report of BAP1-Associated Polyposis.

Autoren: Jacobson AL Roberts ME Byrne L et al.

Quelle: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Dec; Vol. 197 (12), pp. e64176. Date of Electronic Publication: 2025 Jul 10.

Publikationsart: Case Reports; Journal Article

Info zur Zeitschrift: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

MeSH-Schlagworte: Tumor Suppressor Proteins*/genetics , Ubiquitin Thiolesterase*/genetics , Adenomatous Polyposis Coli*/genetics , Adenomatous Polyposis Coli*/pathology , Adenomatous Polyposis Coli*/diagnosis , Genetic Predisposition to Disease*, Humans ; Male ; Female ; Germ-Line Mutation/genetics ; Adult ; Middle Aged ; Mutation ; DNA Mutational Analysis