Results 161 to 170 of about 837,511 (259)

Germline Mutations Related to Complete Remission After Neoadjuvant Chemotherapy in Patients With Triple-negative Breast Cancer. [PDF]

J Breast Cancer
Ahn JH, Park JS, Won D, Lee ST, Lee SJ, Yang SH, Kim JY, Park S, Kim SI, Park BW, Kim MH, Kim GM, Sohn J, Park HS.   +13 more
europepmc   +1 more source

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations

Journal of Clinical Laboratory Analysis, EarlyView.
This study combined karyotyping, copy number variation sequencing, and whole‐exome sequencing to assess the value of genetic testing in the prenatal diagnosis of congenital heart disease (CHD) and to evaluate the relationship between genetic variants and prenatal phenotypes.
Jieqiong Xie, Yanru Huang, Xingmei Yao, Lutan Zhang, Yixi Zhou, Wenbo Wang, Jian Zhang, Yunsheng Ge   +7 more
wiley   +1 more source

Characterization of de novo germline mutations suggests a strong male mutation bias in coppery titi monkeys (Plecturocebus cupreus). [PDF]

Mol Biol Evol
Versoza CJ, Bales KL, Jensen JD, Pfeifer SP.   +3 more
europepmc   +1 more source

Concordance Study on Molecular Detection of Thyroid Nodules by Ultrasound Guided Fine Needle Aspiration

Journal of Clinical Laboratory Analysis, EarlyView.
This prospective study evaluated the performance of DNA and RNA next‐generation sequencing (NGS) using matched fine‐needle aspiration (FNA) and surgical tissue samples from an analysis cohort of 76 patients. ABSTRACT Background Fine needle aspiration (FNA) constitutes the primary preoperative evaluation for thyroid nodules.
Su Meng, Jianxiong Sun, Changliang Zhang, Zhixue Yang, Jinrong Wei, Si Chen, Yanan Li, Xiaoxiao Dai, Guoqin Jiang   +8 more
wiley   +1 more source

Identification of BRCA1 and BRCA2 Germline Mutations in Female Breast Cancer Patients Using Next Generation Sequencing. [PDF]

Asian Pac J Cancer Prev
Swellam M, Khalifa MK, Nageeb AM, Sayed Mahmoud M, Hashim M, Alisslam I A Alshazly A, Mahfouz ME, Ez ElArab LR, Mahmoud MH, Emam Sobeih M.   +9 more
europepmc   +1 more source

De novo germline mutations of the p53 gene in young children with sarcomas

, 1997
Germline p53 mutations are associated with cancer predisposition in Li-Fraumeni families as well as in individuals with component tumors of the syndrome. In the majority of cases these mutations have been shown to be inherited rather than de novo.
Jaffe, N, Strong, LC, Luca, JW, Ayan, I, Hansen, MF   +4 more
core  

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Impact of rare JAK/STAT germline mutations on vaccination-induced innate immune responses in a Tyrolian population. [PDF]

Int J Biol Sci
Hennighausen L, Cho G, Lee SG, Caf Y, Kim J, Knabl L, Furth PA, Lee HK.   +7 more
europepmc   +1 more source

Noncanonical Nucleotides in the Genome Around the Maternal‐Zygotic Transition

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
In this paper, Kazzazi et al. provide a comprehensive review of the dynamics of nonconventional nucleotides in the genome during early developmental stages, hypothesizing a potential role for these nucleotides in the activation of the zygotic genome. ABSTRACT From the very moment of fertilization and throughout development, the cells of animal embryos ...
Latifa Kazzazy, Dávid Mező, Kinga K. Nagy, Viktória Perey‐Simon, Judit Tóth, Angéla Békési, Beáta Vértessy, Máté Varga   +7 more
wiley   +1 more source

Identification of Somatic and Germline Mutations Influencing Treatment Outcomes and Disease Susceptibility in Tunisian Triple-Negative Breast Cancer Using Next-Generation Sequencing. [PDF]

Br J Biomed Sci
Mehri A, Laaribi AB, Jbir I, Chelbi E, Chelly B, Chaabane A, Nechi S, Ouzari HI.   +7 more
europepmc   +1 more source