Zobrazeno 1 - 10
of 321
pro vyhledávání: '"MS-MLPA"'
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
Autor:
Tatsuki Urakawa, Hidenobu Soejima, Kaori Yamoto, Kaori Hara-Isono, Akie Nakamura, Sayaka Kawashima, Hiromune Narusawa, Rika Kosaki, Yutaka Nishimura, Kazuki Yamazawa, Tetsuo Hattori, Yukako Muramatsu, Takanobu Inoue, Keiko Matsubara, Maki Fukami, Shinji Saitoh, Tsutomu Ogata, Masayo Kagami
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background Multi-locus imprinting disturbance (MLID) with methylation defects in various differentially methylated regions (DMRs) has recently been identified in approximately 150 cases with imprinting disorders (IDs), and deleterious varian
Externí odkaz:
https://doaj.org/article/6b5bfe603f204369b891655890db9f4d
Autor:
Africa Manero-Azua, Yerai Vado, Judith Gonzàlez Morlà, Eduard Mogas, Arrate Pereda, Guiomar Perez de Nanclares
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
ObjectiveTo identify the genetic cause underlying the methylation defect in a patient with clinical suspicion of PHP1B/iPPSD3.DesignImprinting is an epigenetic mechanism that allows the regulation of gene expression. The GNAS locus is one of the loci
Externí odkaz:
https://doaj.org/article/64370bfa1e514f149e892d2f9e6fba8b
Autor:
Ivana Baranová, Marek Samec, Dana Dvorská, Igor Šťastný, Katarína Janíková, Ivana Kašubová, Andrea Hornáková, Eva Lukáčová, Andrea Kapinová, Kamil Biringer, Erika Halašová, Zuzana Danková
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Identifying novel epigenetic biomarkers is a promising way to improve the clinical management of patients with breast cancer. Our study aimed to determine the methylation pattern of 25 tumor suppressor genes (TSG) and select the best methyla
Externí odkaz:
https://doaj.org/article/5091c256c8654dcf88a3b2049f72fddc
Publikováno v:
BMC Pregnancy and Childbirth, Vol 24, Iss 1, Pp 1-7 (2024)
Abstract Objective This study aims to perform a prenatal genetic diagnosis of a high-risk fetus with trisomy 7 identified by noninvasive prenatal testing (NIPT) and to evaluate the efficacy of different genetic testing techniques for prenatal diagnos
Externí odkaz:
https://doaj.org/article/118e1ee8d0f54a73b0dee1c254cfe1d5
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background Beckwith‐Wiedemann syndrome and Silver‐Russel syndrome are two imprinting disorders caused by opposite molecular alterations in 11p15.5. With the current diagnostic tests, their molecular diagnosis is challenging due to molecu
Externí odkaz:
https://doaj.org/article/43a7dcfcf5934e0b8708de28a9b2f3b3
Autor:
Africa Manero-Azua, Arrate Pereda, Isabel Llano-Rivas, Intza Garin, Guiomar Perez de Nanclares
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Since the advent of new generation sequencing, professionals are aware of the possibility of obtaining findings unrelated to the pathology under study. However, this possibility is usually forgotten in the case of studies aimed at a sin
Externí odkaz:
https://doaj.org/article/6d6d6e263f2c43be969b0f09df225b77
Autor:
Larissa Bilo, Eguzkine Ochoa, Sunwoo Lee, Daniela Dey, Ingo Kurth, Florian Kraft, Fay Rodger, France Docquier, Ana Toribio, Leonardo Bottolo, Gerhard Binder, György Fekete, Miriam Elbracht, Eamonn R. Maher, Matthias Begemann, Thomas Eggermann
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-12 (2023)
Abstract Background Imprinting disorders (ImpDis) comprise diseases which are caused by aberrant regulation of monoallelically and parent-of-origin-dependent expressed genes. A characteristic molecular change in ImpDis patients is aberrant methylatio
Externí odkaz:
https://doaj.org/article/72db940598164642b5188d503706398c
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