Zobrazeno 1 - 10
of 2 574
pro vyhledávání: '"Gene panel"'
Autor:
Moon Young Oh, Hye-Mi Choi, Jinsun Jang, Heejun Son, Seung Shin Park, Minchul Song, Yoo Hyung Kim, Sun Wook Cho, Young Jun Chai, Woosung Chung, Young Joo Park
Publikováno v:
Endocrinology and Metabolism, Vol 39, Iss 5, Pp 777-792 (2024)
Background We explored the utility of a small multi-gene DNA panel for assessing molecular profiles of thyroid nodules and influencing clinical decisions by comparing outcomes between tested and untested nodules. Methods Between April 2022 and May 20
Externí odkaz:
https://doaj.org/article/5341f5993fb24a6f8b9b768dba957d1a
Autor:
Prabudh Goel, Mahima Sharma, Himani Kaushik, Sourabh Kumar, Harpreet Singh, Vishesh Jain, Anjan Kumar Dhua, Devendra Kumar Yadav, Neeta Kumar, Sandeep Agarwala
Publikováno v:
Journal of Indian Association of Pediatric Surgeons, Vol 29, Iss 5, Pp 529-535 (2024)
OBJECTIVE: To identify the genetic markers of spina bifida through a systematic survey of the exome in an Indian cohort. MATERIALS AND METHODS: Three consecutive patients (P1: 1 year, male; P2: 2.8 years, male; and P3: 10 years, female) with spina bi
Externí odkaz:
https://doaj.org/article/4fe632a602044b1fb5a2e2dbfc9996f9
Autor:
Kanishta Srihar, Arief Gusnanto, Susan D. Richman, Nicholas P. West, Leanne Galvin, Daniel Bottomley, Gemma Hemmings, Amy Glover, Subaashini Natarajan, Rebecca Miller, Sameira Arif, Hannah Rossington, Thomas L. Dunwell, Simon C. Dailey, Gracielle Fontarum, Agnes George, Winnie Wu, Phil Quirke, Henry M. Wood
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Microsatellite instability (MSI) occurs across a number of cancers and is associated with different clinical characteristics when compared to microsatellite stable (MSS) cancers. As MSI cancers have different characteristics, routine MSI tes
Externí odkaz:
https://doaj.org/article/a79db419a61e40a695fcb42742c491c4
Autor:
Anna Zlotina, Svetlana Barashkova, Sergey Zhuk, Rostislav Skitchenko, Dmitrii Usoltsev, Polina Sokolnikova, Mykyta Artomov, Svetlana Alekseenko, Tatiana Simanova, Maria Goloborodko, Olga Berleva, Anna Kostareva
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-23 (2024)
Abstract Background Primary ciliary dyskinesia (PCD) is a group of rare genetically heterogeneous disorders caused by defective cilia and flagella motility. The clinical phenotype of PCD patients commonly includes chronic oto-sino-pulmonary disease,
Externí odkaz:
https://doaj.org/article/2a3baef4f04b48188f2cdc8384e1369f
Autor:
Rocio Garcia‐Uzquiano, Giulia Barcia, Emma Losito, Nicole Chemaly, Anna Kaminska, Isabelle Desguerre, Thomas Blauwblomme, Nathalie Boddaert, Rima Nabbout
Publikováno v:
Epilepsia Open, Vol 9, Iss 4, Pp 1589-1596 (2024)
Abstract Epilepsy surgery may be a curative therapy for patients with drug‐resistant epilepsies when focal lesions or foci are identified. Genetic testing is not yet routinely included in many presurgical evaluation programs although recent evidenc
Externí odkaz:
https://doaj.org/article/a363b821cacf4922b5fe66c3362fdb25
Autor:
Seungbok Lee, Mi‐Kyoung Kang, Ki Hurn So, Riyul Jang, Yong Woo Shin, Se Song Jang, Jihoon G. Yoon, Sheehyun Kim, Manjin Kim, Kon Chu, Sang Kun Lee, Ki Joong Kim, Seung Tae Baek, Byung Chan Lim, Jangsup Moon
Publikováno v:
Epilepsia Open, Vol 9, Iss 4, Pp 1538-1549 (2024)
Abstract Objective Epilepsy is a suitable target for gene panel sequencing because a considerable portion of epilepsy is now explained by genetic components, especially in syndromic cases. However, previous gene panel studies on epilepsy have mostly
Externí odkaz:
https://doaj.org/article/dee75dde6e6246898cd9753267d9fc4b
Autor:
Tatiana Aghova, Halka Lhotska, Libuse Lizcova, Karla Svobodova, Lucie Hodanova, Karolina Janeckova, Kim Vucinic, Martin Gregor, Dora Konecna, Filip Kramar, Jiri Soukup, David Netuka, Zuzana Zemanova
Publikováno v:
Pathology and Oncology Research, Vol 30 (2024)
Glioblastoma is the commonest primary malignant brain tumor, with a very poor prognosis and short overall survival. It is characterized by its high intra- and intertumoral heterogeneity, in terms of both the level of single-nucleotide variants, copy
Externí odkaz:
https://doaj.org/article/91648be324ac402e9df1252486cec518
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 5, Pp 5010-5022 (2024)
Numerous hereditary ophthalmic diseases display significant genetic diversity. Consequently, the utilization of gene panel sequencing allows a greater number of patients to receive a genetic diagnosis for their clinical manifestations. We investigate
Externí odkaz:
https://doaj.org/article/8fd3c9c0fca0415aa7ad3ace288a5ebb
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children
Autor:
Khrystyna Shchubelka, Liudmyla Turova, Walter Wolfsberger, Kelly Kalanquin, Krista Williston, Oleksii Kurutsa, Anastasiia Makovetska, Yaroslava Hasynets, Violeta Mirutenko, Mykhailo Vakerych, Taras K Oleksyk
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-10 (2024)
Abstract Background Global developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. Next-genera
Externí odkaz:
https://doaj.org/article/dadaca41394c4705b2a016f4565f2554
Autor:
Emanuel Krebs, Deirdre Weymann, Cheryl Ho, Ian Bosdet, Janessa Laskin, Howard J. Lim, Stephen Yip, Aly Karsan, Timothy P. Hanna, Samantha Pollard, Dean A. Regier
Publikováno v:
The Lancet Regional Health. Americas, Vol 40, Iss , Pp 100936- (2024)
Summary: Background: Multi-gene panel sequencing streamlines treatment selection for advanced non-small cell lung cancer (NSCLC). Implementation continues to be uneven across jurisdictions, partly due to uncertain clinical and economic impacts. In Br
Externí odkaz:
https://doaj.org/article/111b1112bb8d497ea909af7e27f31682