Essentials of diagnosis and prevention of genetic diseases in the primary health care. by Julia Surí González, María Antonia Ocaña Gil, María del Rosario Liriano Ricabal, Luisa Días Requeiro, Antonio Masót Rangel, Sonia González Sosa

“…Subjects related with these issues are thought since the pre-graduate education, in the second year of Medicine studies and in the postgraduate courses as part of the General Comprehensive Medicine residency within the subject Medical Genetics. The importance of this topic supported the creation of this pamphlet, based on a bibliographical review of the subject related with the implementation of the diagnosis and prevention program for genetic disease within the practice of genetic advising. …”
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The Genetic Landscape of Human Glioblastoma and Matched Primary Cancer Stem Cells Reveals Intratumour Similarity and Intertumour Heterogeneity by Chiara Pesenti, Stefania Elena Navone, Laura Guarnaccia, Andrea Terrasi, Jole Costanza, Rosamaria Silipigni, Silvana Guarneri, Nicola Fusco, Laura Fontana, Marco Locatelli, Paolo Rampini, Rolando Campanella, Silvia Tabano, Monica Miozzo, Giovanni Marfia

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Robust and Long-Lasting Immunity and Protection in Mice Induced by Lipopolyplex-Delivered mRNA Vaccines Expressing the Prefusion Protein of Respiratory Syncytial Virus by Xuchang Shan, Ruiwen Han, Xueting Cheng, Jialuo Bing, Zhenyong Qi, Shucai Sun, Tangqi Wang, Qiaohong Chu, Yao Deng, Desheng Zhai, Wenjie Tan

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Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients by Doudou Chen, Tao Yang, Siquan Zhu

“…Panel-based exome sequencing was performed with the Illumina HiSeq X-Ten platform, and then the identified variants were confirmed with Sanger sequencing and evaluated according to the American College of Medical Genetics and Genomics (ACMG) criteria. Results. …”
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Medial Position and Counterclockwise Rotation of the Parietal Scalp Hair-Whorl as a Possible Indicator for Non-Right-Handedness by Heinrich Schmidt, Martin Depner, Michael Kabesch

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Oxidative stress in viral hepatitis by Huseyin Erdal, Hacer Ozlem Kalayci

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Epigenetic Mechanisms Underlying Sex Differences in Neurodegenerative Diseases by Andrea Stoccoro

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Genetic screening of South African families with Parkinson’s disease by S Bardien, A Braun, R van Coller, F Hassan Amod, J Carr, S Moosa

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Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy by Sethapong Lertsakulbunlue, Boonsub Sakboonyarat, Piradee Suwanpakdee, Boonchai Boonyawat

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COVID-19 and children with congenital anomalies: a European survey of parents’ experiences of healthcare services by Ingeborg Barisic, Carlos Matias Dias, Amanda Neville, Anna Pierini, Anke Rissmann, Joan K Morris, Judith Rankin, Ester Garne, Anna Latos-Bielenska, Elena Marcus, Anna Jamry-Dziurla, Ljubica Odak, Clara Cavero- Carbonell, Elly Den Hond, Lucas Genard, Ana João Santos, L Renée Lutke, Christina Neergaard Pedersen, Annika Niemann, Lucía Páramo-Rodríguez

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An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants by Bruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman, Anastasia Jacko, Sandy Rubio, Emanuel Loeza-Alcocer, Julia Kofler, Dongkyeong Kim, Julia Rankin, Emma Kivuva, Nicholas Gutowski, Katherine Schon, Jelle van den Ameele, Patrick F. Chinnery, Sérgio B. Sousa, Filipe Palavra, Camilo Toro, Filippo Pinto e Vairo, Jonas Saute, Lisa Pan, Murad Alturkustani, Robert Hammond, Francois Gros-Louis, Michael S. Gold, Yungki Park, Geneviève Bernard, Raili Raininko, Jian Zhou, Sarah J. Hainer, Quasar S. Padiath

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Investigating mobile element variations by statistical genetics by Shohei Kojima

“…Focusing on MEVs, we identified multiple MEVs that contribute to differential gene expression and one of them is a potential cause of skin disease, emphasizing the importance of the integration of MEVs in medical genetics. Here, I will provide an overview of MEVs, MEV calling from WGS, and the integration of MEVs in statistical genetics. …”
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A Large PROP1 Gene Deletion in a Turkish Pedigree by Suheyla Gorar, Doga Turkkahraman, Kanay Yararbas

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Symptomatic Primary (AL) Amyloidosis of the Stomach and Duodenum by Reidar Fossmark, Espen Skarsvåg, Harald Aarset, Henrik Hjorth-Hansen, Helge L. Waldum

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Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome by Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi

“…All variants were interpreted as pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines and confirmed through Sanger sequencing. …”
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Rule-Based Classification Based on Ant Colony Optimization: A Comprehensive Review by Sayed Kaes Maruf Hossain, Sajia Afrin Ema, Hansuk Sohn

“…This review also reports a summary of real-life implementations of the rule-based classifiers in diverse domains including medical, genetics, portfolio analysis, geographic information system (GIS), human-machine interaction (HMI), autonomous driving, ICT, quality, and reliability engineering. …”
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Custom exome panel revealed new mutations in MAPK14 and novel mutation in RUNX2 gene in patients with PCOS by Yunus Arikan, Taylan Onat

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Pure Red Cell Aplasia with Del(20q) Sensitive for Immunosuppressive Treatment by Anh Khoi Vo, Hilde Kollsete Gjelberg, Randi Hovland, Marte Karen Lindstad Brattås, Øystein Bruserud, Håkon Reikvam

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Comparison between Real-Time Quantitative PCR Detection of HER2 mRNA Copy Number in Peripheral Blood and ELISA of Serum HER2 Protein for Determining HER2 Status in Breast Cancer Pa... by Maria Savino, Paola Parrella, Massimiliano Copetti, Raffaela Barbano, Roberto Murgo, Vito Michele Fazio, Vanna Maria Valori, Massimo Carella, Maria Garrubba, Stefano Angelo Santini

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Diabetes and congenital malformations. Cienfuegos, 2005-2015 by Oramis Isabel Padrón Aguilera, Maylé Santos Solí, Vivian Rosa Vázquez Martínez, Cristóbal Jorge Torres González, Gladys Bárbara Barberis Pérez

“…The data were obtained from the model of the Cuban Registry of Congenital and Prenatal Malformations and other documents of the archives department of the Maternity Hospital of Cienfuegos and the Provincial Center of Medical Genetics. We analyzed socio- demographic, maternal variables, type of malformation and pre and postnatal diagnosis according to the case. …”
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