Search Results - "next generation sequencing"

AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases by Ju-Yin Chen, Jia-Feng Wu, Akihiko Kimura, Hiroshi Nittono, Bang-Yu Liou, Chee-Seng Lee, Ho-Sheng Chen, Yu-Chun Chiu, Yen-Hsuan Ni, Steven Shinn-Forng Peng, Wang-Tso Lee, I-Jung Tsai, Mei-Hwei Chang, Huey-Ling Chen

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Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis by Gréta Antal, Anna Zsigmond, Ágnes Till, Eniko Orsi, Ildiko Szanto, Gergely Büki, László Kereskai, Zsuzsanna Herbert, Kinga Hadzsiev, Judit Bene

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Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia by Kana Kitayama, Tomoya Ishiguro, Masaki Komiyama, Takayuki Morisaki, Hiroko Morisaki, Gaku Minase, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto, Masaru Kato, Toru Takahashi, Tohru Yorifuji

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Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study by Fan Zhou, Jun Ren, Yutong Li, Yuezhi Keqie, Cuiting Peng, Han Chen, Xinlian Chen, Shanling Liu

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Genomic surveillance during the first two years of the COVID-19 pandemic - country experience and lessons learned from Türkiye by Süleyman Yalçın, Süleyman Yalçın, Yasemin Coşgun, Yasemin Coşgun, Ege Dedeoğlu, Katharina Kopp, Fatma Bayrakdar, Fatma Bayrakdar, Gültekin Ünal, Biran Musul, Ekrem Sağtaş, Gülay Korukluoğlu, Philomena Raftery, Sedat Kaygusuz

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Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene by Genevieve M Gould, Peter V Grauman, Mark R Theilmann, Lindsay Spurka, Irving E Wang, Laura M Melroy, Robert G Chin, Dustin H Hite, Clement S Chu, Jared R Maguire, Gregory J Hogan, Dale Muzzey

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Case Report of Novel Genetic Variant in KCNT1 Channel and Pharmacological Treatment With Quinidine. Precision Medicine in Refractory Epilepsy by M. C. Kravetz, M. S. Viola, J. Prenz, M. Curi, G. F. Bramuglia, G. F. Bramuglia, S. Tenembaum

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Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children by Damla Gökşen, Ediz Yeşilkaya, Samim Özen, Yılmaz Kor, Erdal Eren, Özlem Korkmaz, Merih Berberoğlu, Gülay Karagüzel, Eren Er, Ayhan Abacı, Olcay Evliyaoğlu, Emine Demet Akbaş, Edip Ünal, Semih Bolu, Özlem Nalbantoğlu, Ahmet Anık, Meltem Tayfun, Muammer Büyükinan, Saygın Abalı, Gülay Can Yılmaz, Deniz Kör, Elif Söbü, Zeynep Şıklar, Recep Polat, Şükran Darcan

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Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency by Friedrich Kueppers, Mark D. Andrake, Qifang Xu, Roland L. Dunbrack, Joannah Kim, Christopher L. Sanders

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Isolation and characterization of SARS-CoV-2 Beta variant from UAE travelers by Pragya D. Yadav, Prasad Sarkale, Alpana Razdan, Nivedita Gupta, Dimpal A. Nyayanit, Rima R. Sahay, Varsha Potdar, Deepak Y. Patil, Shreekant Baradkar, Abhinendra Kumar, Neeraj Aggarwal, Anita M. Shete, Harmanmeet Kaur, Sreelekshmy Mohandas

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Highly Specific Blood-Brain Barrier Transmigrating Single-Domain Antibodies Selected by an In Vivo Phage Display Screening by Sandra Isabel Aguiar, Joana N. R. Dias, Ana Santos André, Marta Lisete Silva, Diana Martins, Belmira Carrapiço, Miguel Castanho, João Carriço, Marco Cavaco, Maria Manuela Gaspar, Rui Jorge Nobre, Luís Pereira de Almeida, Soraia Oliveira, Lurdes Gano, João D. G. Correia, Carlos Barbas, João Gonçalves, Vera Neves, Frederico Aires-

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Molecular Epidemiology of Human Papillomavirus Infection Among Chinese Women With Cervical Cytological Abnormalities by Eliza Lai-Yi Wong, Annie Wai-Ling Cheung, Zigui Chen, Amy Yuen-Kwan Wong, Apple Chung-Man Yeung, Peter Sen-Yung Yau, Paul Kay-Sheung Chan

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Targeting a highly repeated germline DNA sequence for improved real-time PCR-based detection of Ascaris infection in human stool. by Nils Pilotte, Jacqueline R M A Maasch, Alice V Easton, Eric Dahlstrom, Thomas B Nutman, Steven A Williams

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Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype by Fonseca DJ, Morel A, Llinás-Caballero K, Bolívar-Salazar D, Laissue P

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Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population by Wenying Wang, Yi Liu, Lulu Kang, Ruxuan He, Jinqing Song, Yanhan Li, Jun Li, Yanling Yang

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Direct metagenomics investigation of non-surgical hard-to-heal wounds: a review by Madjid Morsli, Florian Salipante, Chloé Magnan, Catherine Dunyach-Remy, Albert Sotto, Jean-Philippe Lavigne

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Developments in Bovine Immunology - An Integrated View by Kieran G. Meade

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Low‐burden TP53 mutations represent frequent genetic events in CLL with an increased risk for treatment initiation by Tamás László, Lili Kotmayer, Viktória Fésüs, Lajos Hegyi, Stefánia Gróf, Ákos Nagy, Béla Kajtár, Alexandra Balogh, Júlia Weisinger, Tamás Masszi, Zsolt Nagy, Péter Farkas, Judit Demeter, Ildikó Istenes, Róbert Szász, Lajos Gergely, Adrienn Sulák, Zita Borbényi, Dóra Lévai, Tamás Schneider, Piroska Pettendi, Emese Bodai, László Szerafin, László Rejtő, Árpád Bátai, Mária Á Dömötör, Hermina Sánta, Márk Plander, Tamás Szendrei, Aryan Hamed, Zsolt Lázár, Zsolt Pauker, Gáspár Radványi, Adrienn Kiss, Gábor Körösmezey, János Jakucs, Péter J Dombi, Zsófia Simon, Zsolt Klucsik, Mihály Gurzó, Márta Tiboly, Tímea Vidra, Péter Ilonczai, András Bors, Hajnalka Andrikovics, Miklós Egyed, Tamás Székely, András Masszi, Donát Alpár, András Matolcsy, Csaba Bödör

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An outbreak of infection due to severe acute respiratory corona virus-2 in a neonatal unit from a low and middle income setting by Firdose Lambey Nakwa, Reenu Thomas, Alison van Kwawegen, Nandi Ntuli, Karabo Seake, Samantha Jane Kesting, Noela Holo Bertha Kamanga, Dikeledi Maureen Kgwadi, Neema Chami, Tshiamo Mogajane, Claude Ondongo-Ezhet, Thulisile Nelly Maphosa, Stephanie Jones, Vicky Lynne Baillie, Shabir Ahmed Madhi, Shabir Ahmed Madhi, Sithembiso Velaphi

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Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient by Francesca Conti, Arianna Catelli, Cristina Cifaldi, Cristina Cifaldi, Lucia Leonardi, Rita Mulè, Marco Fusconi, Vittorio Stefoni, Maria Chiriaco, Beatrice Rivalta, Beatrice Rivalta, Silvia Di Cesare, Gioacchino Schifino, Gioacchino Schifino, Fabiana Sbrega, Gigliola Di Matteo, Gigliola Di Matteo, Simona Ferrari, Caterina Cancrini, Andrea Pession

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