Zobrazeno 1 - 10
of 555
pro vyhledávání: '"Genetic diagnostics"'
Autor:
Ferdinando Bonfiglio, Andrea Legati, Vito Alessandro Lasorsa, Flavia Palombo, Giulia De Riso, Federica Isidori, Silvia Russo, Simone Furini, Giuseppe Merla, Fabio Coppedè, Marco Tartaglia, Omics Sciences - Bioinformatics and Epigenetics Working Groups of the Italian Society of Human Genetics (SIGU), Alessandro Bruselles, Tommaso Pippucci, Andrea Ciolfi, Michele Pinelli, Mario Capasso
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-31 (2024)
Abstract This comprehensive review provides insights and suggested strategies for the analysis of germline variants using second- and third-generation sequencing technologies (SGS and TGS). It addresses the critical stages of data processing, startin
Externí odkaz:
https://doaj.org/article/1a28a315c00441ab8ff04e234f98ae3e
Autor:
Natalia Bodunova, Larisa Tsapkova, Vera Polyakova, Irina Baratova, Konstantin Rumyantsev, Natalia Dekhnich, Karina Nikolskaya, Margarita Chebotareva, Irina Voynovan, Elena Parfenchikova, Galina Pronina, Ekaterina Chernikova, Dmitry Bordin
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 7, Pp 6665-6674 (2024)
The Maastricht VI/Florence consensus recommends, as one of the measures to enhance the efficacy of Helicobacter pylori infection eradication, a personalized treatment approach involving the selection of an antimicrobial agent based on the pre-determi
Externí odkaz:
https://doaj.org/article/dda39ed4f38440f484fe09312efb42aa
Autor:
Yulia S. Koshevaya, Mariia E. Turkunova, Anastasia O. Vechkasova, Elena A. Serebryakova, Maxim Yu. Donnikov, Svyatoslav I. Papanov, Alexander N. Chernov, Lev N. Kolbasin, Lyudmila V. Kovalenko, Andrey S. Glotov, Oleg S. Glotov
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 5, Pp 4106-4118 (2024)
Osteogenesis imperfecta (OI) is a group of inherited disorders of connective tissue that cause significant deformities and fragility in bones. Most cases of OI are associated with pathogenic variants in collagen type I genes and are characterized by
Externí odkaz:
https://doaj.org/article/c9c348e41fe94a8ca1e5079e95152198
Autor:
V. A. Shuvaev, I. S. Martynkevich
Publikováno v:
Онкогематология, Vol 19, Iss 1, Pp 21-39 (2024)
Polycythemia vera is a disease known since ancient times, however, until recent decades, diagnosis was carried out by exclusion, and therapy was symptomatic. The discovery of the pathogenetic role of mutations in the Janus kinase II gene has led to t
Externí odkaz:
https://doaj.org/article/b274499c21794733927f64b582123304
Autor:
Vladimir Y. Mishin, Anastasiia V. Mishina, Dmitry A. Lezhnev, Aleksandr L. Sobkin, Ivan V. Shashenkov
Publikováno v:
Consilium Medicum, Vol 25, Iss 9, Pp 551-557 (2023)
Aim. To study the features of clinical manifestations and diagnosis of comorbidity of disseminated pulmonary tuberculosis, coronavirus, pneumocystis and pneumococcal pneumonia in patients with late stages of HIV infection with immunodeficiency. Ma
Externí odkaz:
https://doaj.org/article/0aa6f74d75e7458bad918d3969510198
Autor:
Sandra von Hardenberg, Isabel Klefenz, Doris Steinemann, Nataliya Di Donato, Ulrich Baumann, Bernd Auber, Christian Klemann
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
New technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which en
Externí odkaz:
https://doaj.org/article/ff11a23ce27c46ce96405dd16607ab8d
Publikováno v:
Advances in Laboratory Medicine, Vol 4, Iss 1, Pp 28-39 (2023)
Prenatal genetic diagnosis of monogenic diseases is a process involving the use of a variety of molecular techniques for the molecular characterization of a potential monogenic disease in the fetus during pregnancy. Prenatal genetic diagnosis can be
Externí odkaz:
https://doaj.org/article/d4596c0e04184eb6a891849125480a8d
Autor:
Vladimir Yu. Mishin, Anastasiia V. Mishina, Dmitry A. Lezhnev, Aleksandr L. Sobkin, Ivan V. Shashenkov
Publikováno v:
Consilium Medicum, Vol 24, Iss 9, Pp 645-650 (2022)
Aim. To study the features of the social status, clinic and diagnosis of respiratory tuberculosis comorbidity and viral pneumonia caused by Herpes simplex virus type 1, Cytomegalovirus Human and SARS-CoV-2 in patients with late-stage HIV infection wi
Externí odkaz:
https://doaj.org/article/8375c743f4ee4b61b55658464f5761b3
Publikováno v:
Опухоли головы и шеи, Vol 12, Iss 2, Pp 71-78 (2022)
Introduction. Fine needle aspiration biopsy followed by cytological examination is the gold standard in the diagnosis of thyroid nodules. However, up to one third of cases represent an indeterminate result (Bethesda Thyroid Classification, 2017) III
Externí odkaz:
https://doaj.org/article/bda8c49f56f341f692685f4c13d6a75d
Autor:
Valentina V. Lapaeva
Publikováno v:
RUDN Journal of Law, Vol 25, Iss 1, Pp 179-197 (2021)
The topicality of the article is due to the strategy of transition to personalized medicine in Russia, based, among other things, on technologies of preimplantation and prenatal genetic diagnostics. The purpose of the article is to analyze the main d
Externí odkaz:
https://doaj.org/article/549d9971d4054c948b3fd379aa03f3f9