Zobrazeno 1 - 10
of 371
pro vyhledávání: '"exome analysis"'
Autor:
Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto e Vairo, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz
Publikováno v:
Genetics and Molecular Biology, Vol 47, Iss 1 (2024)
Abstract Massive sequencing platforms allow the identification of complex clinical phenotypes involving more than one autosomal recessive disorder. In this study, we report on an adult patient, born to a related couple (third degree cousins), referre
Externí odkaz:
https://doaj.org/article/c8126f3045e9484785b14d1f1aa59e81
Autor:
Chisei Satoh, Koh-ichiro Yoshiura, Hiroyuki Mishima, Haruo Yoshida, Haruo Takahashi, Yoshihiko Kumai
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Background Chronic inflammation causes bone destruction in middle ear cholesteatomas (MECs). However, the causes of their neoplastic features remain unknown. The present study demonstrated for the first time that neoplastic features of MEC a
Externí odkaz:
https://doaj.org/article/237272bced07417487e069f9dc780f72
Publikováno v:
Turkish Journal of Hematology, Vol 41, Iss 2, Pp 126-127 (2024)
Externí odkaz:
https://doaj.org/article/f2c912b958ac4fb98d8d2ca404dabce1
Autor:
Lorraine Dalens, Julie Niogret, Corentin Richard, Sandy Chevrier, Pascal Foucher, Bruno Coudert, Aurélie Lagrange, Laure Favier, Virginie Westeel, Stefano Kim, Olivier Adotevi, Caroline Chapusot, Laurent Martin, Laurent Arnould, Courèche-Guillaume Kaderbhai, Romain Boidot
Publikováno v:
Molecular Cancer, Vol 22, Iss 1, Pp 1-9 (2023)
Abstract Background Non-small cell lung cancer is a very poor prognosis disease. Molecular analyses have highlighted several genetic alterations which may be targeted by specific therapies. In clinical practice, progression-free survival on EGFR TKI
Externí odkaz:
https://doaj.org/article/fae01f6d6f6245acad2b87dbc4464121
Deciphering pathological behavior of pediatric medullary thyroid cancer from single-cell perspective
Autor:
De-qian Chen, En-qing Zhou, Hui-fen Chen, Yong Zhan, Chun-Jing Ye, Yi Li, Shu-yang Dai, Jun-feng Wang, Lian Chen, Kui-ran Dong, Rui Dong
Publikováno v:
PeerJ, Vol 11, p e15546 (2023)
Background Pediatric medullary thyroid cancer (MTC) is one of the rare pediatric endocrine neoplasms. Derived from C cells of thyroid glands, MTC is more aggressive and more prompt to metastasis than other types of pediatric thyroid cancer. The mecha
Externí odkaz:
https://doaj.org/article/3f62f3b930584397923c35448b4a3120
Autor:
Ingrid Bader, M. Freilinger, F. Landauer, S. Waldmüller, W. Mueller-Felber, C. Rauscher, W. Sperl, R. E. Bittner, W. M. Schmidt, J. A. Mayr
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of
Externí odkaz:
https://doaj.org/article/3788b27f1fac4656b0974f853cbcc19d
Autor:
Cesare Danesino, Monica Gualtierotti, Matteo Origi, Angelina Cistaro, Michela Malacarne, Matteo Massidda, Katia Bencardino, Domenico Coviello, Giovanni Albani, Irene Giovanna Schiera, Alexandra Liava, Andrea Guala
Publikováno v:
Diseases, Vol 12, Iss 1, p 9 (2023)
Background: In Cri du Chat (CdC), cancer as comorbidity is extremely rare. In databases from Denmark, Spain, Australia, New Zealand, and Japan, no cancer was reported; in Italy and Germany, four cancers were identified out of 321 CdCs. Methods: In a
Externí odkaz:
https://doaj.org/article/617252f7c1684f74982d2bc68ee9ae5a
Autor:
Alberto Corvò, Leslie Matalonga, Dylan Spalding, Alexander Senf, Steven Laurie, Daniel Picó-Amador, Marcos Fernandez-Callejo, Ida Paramonov, Anna Foix Romero, Emilio Garcia-Rios, Jorge Izquierdo Ciges, Anand Mohan, Coline Thomas, Andres Felipe Silva Valencia, Csaba Halmagyi, Mallory Ann Freeberg, Ana Töpf, Rita Horvath, Gary Saunders, Ivo Gut, Thomas Keane, Davide Piscia, Sergi Beltran
Publikováno v:
Cell Genomics, Vol 3, Iss 2, Pp 100246- (2023)
Summary: The Solve-RD project objectives include solving undiagnosed rare diseases (RD) through collaborative research on shared genome-phenome datasets. The RD-Connect Genome-Phenome Analysis Platform (GPAP), for data collation and analysis, and the
Externí odkaz:
https://doaj.org/article/f9ee0f23dcd94c7889cc3f95ab5a3d8b
Autor:
Ricarda Köllges, Jil Stegmann, Sophia Schneider, Lea Waffenschmidt, Julia Fazaal, Katinka Breuer, Alina C. Hilger, Gabriel C. Dworschak, Enrico Mingardo, Wolfgang Rösch, Aybike Hofmann, Claudia Neissner, Anne-Karolin Ebert, Raimund Stein, Nina Younsi, Karin Hirsch-Koch, Eberhard Schmiedeke, Nadine Zwink, Ekkehart Jenetzky, Holger Thiele, Kerstin U. Ludwig, Heiko Reutter
Publikováno v:
Biomolecules, Vol 13, Iss 7, p 1117 (2023)
Background: The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the external genitalia, and, in severe cases, the gastrointestinal tract as we
Externí odkaz:
https://doaj.org/article/74b382b7c34646239735014ee1312e5a
Autor:
Tsunenori Saito, Naoko Saito Sato, Kosuke Mozawa, Akiko Adachi, Yoshihiro Sasaki, Kotoka Nakamura, Eiichiro Oka, Toshiaki Otsuka, Eitaro Kodani, Kuniya Asai, Kyoichi Mizuno, Wataru Shimizu, Roberta A. Gottlieb
Publikováno v:
ESC Heart Failure, Vol 8, Iss 6, Pp 5178-5191 (2021)
Abstract Aims The aim of the present study was to consider whether the ultrastructural features of cardiomyocytes in dilated cardiomyopathy can be used to guide genetic testing. Methods and results Endomyocardial biopsy and whole‐exome sequencing w
Externí odkaz:
https://doaj.org/article/2bae72efb5c54cd899bb402878691bd3