Results 121 to 130 of about 37,774 (292)

Table_1_Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters.DOCX

, 2019
In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters.
Qunda Shan (6442721), Jiayong Zheng (6442724), Xiaodong Du (673500), Yiyang Zhu (6442718), Fan Jin (466503), Huanli Yang (6442730), Qunxi Cai (6442727), Jianhong Zhang (2040352)   +7 more
core   +1 more source

High‐Grade B‐Cell Lymphoma With 11q Aberration in Africa: A Differential Diagnosis in Cases With Features of Endemic Burkitt Lymphoma

International Journal of Cancer, EarlyView.
ABSTRACT Fifty years ago, Zech et al. in this journal described for the first time the t(8;14) as a recurrent chromosomal aberration in Burkitt lymphoma (BL). Nevertheless, in regions where BL is not endemic, a subset of lymphomas with features of BL lacks the t(8;14)/IG::MYC and instead represents high‐grade B‐cell lymphoma with 11q aberration (HGBCL ...
Timothy Onyuma, Anja Fischer, Raffaella Guazzo, Mateus H. Gouveia, Noel Onyango, Cristiana Bellan, Susanne Bens, Roberto Boccacci, Michaela Feuring, Massimo Granai, Grace Kiraka, Alexandra G. Kouroukli, Stefano Lazzi, Cosimo Lori, Marianne Wanjiru Mureithi, Joshua Nyagol, Matthias Schlesner, Maria Chiara Siciliano, Margherita Vannucchi, Rabea Wagener, Nicholas Othieno‐Abinya, Sam M. Mbulaiteye, Lorenzo Leoncini, Reiner Siebert   +23 more
wiley   +1 more source

From karyotyping to array-CGH in prenatal diagnosis

, 2011
Conventional karyotyping detects chromosomal anomalies in up to 35% of pregnancies with fetal ultrasound anomalies, depending on the number and type of these anomalies.
Knoers, N V A M, K.D. Lichtenbelt, Lichtenbelt, K D, G.H. Schuring-Blom, N.V.A.M. Knoers, Schuring-Blom, G H   +5 more
core   +1 more source

Prenatal screening and diagnostic strategies for fetal genetic abnormalities: Comparison of international clinical guidelines

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract This study compares recommendations from international clinical guidelines regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of non‐invasive prenatal testing (NIPT), invasive diagnostic procedures, and advanced genomic technologies.
Geovanna Saboia Veras, João Renato Bennini   +1 more
wiley   +1 more source

Clinical utility of of molecular karyotyping

, 2018
WOS: 000445937400007Purpose: The aim of this study was to investigate molecular karyotyping of epilepsy and intellectual disabilites and to reveal its relationship with these diseases.
Sevcan TUĞ BOZDOĞAN, Atıl BİŞGİN, Bisgin, Atil, Bozdogan, Sevcan Tug   +3 more
core   +1 more source

Computer-assisted karyotyping with human interaction.

, 1977
A system for machine assisted karyotyping and chromosome analysis has been developed. The system uses a drum- or TV-scanner as input device, runs provisionally in 32 K memory, and also allows human interaction on several stages.
J De Boer, F Dom, J Van Daele, A Oosterlinck, H Van Den Berghe, A Reynaerts   +5 more
core   +1 more source

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

Additional file 1: of Karyotyping of circulating tumor cells for predicting chemotherapeutic sensitivity and efficacy in patients with esophageal cancer

, 2019
Table S1. CTC karyotyping and chemotherapeutic efficacy of 79 esophageal cancer patients with first 2-cycles chemotherapy.
Yingxue Wang (5902328), Yingjie Chen (463450), Zhipeng Yang (6095960), Juandong Wang (6913226), Chuanxin Wang (332087)   +4 more
core   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review

Frontiers in Pediatrics
Mixed gonadal dysgenesis is caused by a variety of chromosome abnormalities, most commonly Y chromosome mosaicism. An 8-year-old boy presented with short stature for possible treatment with recombinant growth hormone.
Qiang Zhang, Xiaoxiao Chen, Yanyan Cao, Yanyan Cao, Yun Zhou, Yingye Liu, Lijun Liu, Lei Liu, Xiaowei Cui   +8 more
doaj   +1 more source