Navigating complex choices through legitimation: Narrative strategies in risk-reduction mastectomy decision-making among unaffected women with genetic risk for breast cancer in Swi... by Maria Caiata-Zufferey, Reka Schweighoffer, Monica Aceti, Carla Pedrazzani, Maria C. Katapodi, Souria Aissaoui, Mekdes Alemu, Murat Aykut, Fulvia Brugnoletti, Rachel Bunger, Nicole Bürki, Pierre O. Chappuis, Muriel Fluri, Rossella Graffeo, Karl Heinimann, Ashley Machen, Christian Monnerat, Olivia Pagani, Manuela Rabaglio, Eveline Schönau, Simon Wieser, Ursina Zürrer-Härdi

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Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome by May El Hachem, Andrea Diociaiuti, Angela Galeotti, Francesca Grussu, Elena Gusson, Alessandro Ferretti, Carlo Efisio Marras, Davide Vecchio, Simona Cappelletti, Mariasavina Severino, Carlo Gandolfo, Simone Reali, Rosa Longo, Carmen D’Amore, Lodovica Gariazzo, Federica Marraffa, Marta Luisa Ciofi Degli Atti, Maria Margherita Mancardi, and the Sturge-Weber Syndrome Multidisciplinary Group

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408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing by Georgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior

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Neural markers of error processing relate to task performance, but not to substance-related risks and problems and externalizing problems in adolescence and emerging adulthood by Olga D. Boer, Thea Wiker, Shervin H. Bukhari, Rikka Kjelkenes, Clara M.F. Timpe, Irene Voldsbekk, Knut Skaug, Rune Boen, Valerie Karl, Torgeir Moberget, Lars T. Westlye, Ingmar H.A. Franken, Hanan El Marroun, Rene J. Huster, Christian K. Tamnes

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Analyzing the efficacy of a novel method for detecting achromatopsia by N.V. Sukhanova, S.I. Rychkova, V.G. Likhvantseva, R.I. Sandimirov, V.V. Kadyshev, R.A. Zinchenko

“…Zinchenko¹ </p> <p> ¹Research Center for Medical Genetics, Moscow, Russian Federation </p> <p> ²Institute for Information Transmission Problems of the RAS (Kharkevich Institute), Moscow,&nbsp;&nbsp; Russian Federation </p> <p> ³Pirogov Russian National Research Medical University, Moscow, Russian Federation </p> <p> ⁴A.I. …”
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Effects of pyrazosulfuron-ethyl on caudal fin regeneration in zebrafish larvae by Chenkai Ge, Zhijun Ye, Weitao Hu, Jingrong Tang, Huimin Li, Fasheng Liu, Xinjun Liao, Jianjun Chen, Shouhua Zhang, Zigang Cao

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Modeling of auditory neuropathy spectrum disorders associated with the TEME43 variant reveals impaired gap junction function of iPSC-derived glia-like support cells by Xiaoming Kang, Xiaoming Kang, Lu Ma, Lu Ma, Lu Ma, Jie Wen, Jie Wen, Wei Gong, Wei Gong, Xianlin Liu, Xianlin Liu, Yihan Hu, Yihan Hu, Zhili Feng, Zhili Feng, Qiancheng Jing, Qiancheng Jing, Yuexiang Cai, Yuexiang Cai, Sijun Li, Xinzhang Cai, Kai Yuan, Yong Feng, Yong Feng, Yong Feng, Yong Feng, Yong Feng

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The bile acid chenodeoxycholic acid associates with reduced stroke in humans and mice by Vera F. Monteiro-Cardoso, Xin Yi Yeo, Han-Gyu Bae, David Castano Mayan, Mariam Wehbe, Sejin Lee, Kumar Krishna-K, Seung Hyun Baek, Leon F. Palomera, Lik Hang Wu, Leroy S. Pakkiri, Sangeetha Shanmugam, Kai Ping Sem, Mun Geok Yew, Matthew P. Parsons, Michael R. Hayden, Leonard L.L. Yeo, Vijay K. Sharma, Chester Drum, Elisa A. Liehn, Sreedharan Sajikumar, Svend Davanger, Dong-Gyu Jo, Mark Y.Y. Chan, Benjamin Y.Q. Tan, Sangyong Jung, Roshni R. Singaraja

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The study of interactome in Russian patients with Usher syndrome to select priority approaches in pathogenetically oriented treatment by M.E. Ivanova, D.S. Atarshchikov, A.M. Demchinsky, V.V. Strelnikov, D. Barh, G.V. Poryadin, L.M. Balashova, J.M. Salmasi

“…Salmasi⁶</b><br> </p> <p> <b>¹LLC “Oftalmic”, Moscow, Russian Federation</b> </p> <p> <b>²Central Clinical Hospital under Presidential Affairs, Moscow, Russian Federation</b> </p> <p> <b>³Autonomous nonprofit organization “Scientific and industrial laboratory “Sensor technology <br> </b><b>&nbsp; </b><b>for deafblind”, Moscow, Russian Federation</b> </p> <p> <b>⁴Research Centre for Medical Genetics, Moscow, Russian Federation</b> </p> <p> <b>⁵Institute of Integrative Omics and Applied Biotechnology (IIOAB), Bangalore, India</b> </p> <p> <b>⁶Pirogov Russian National Research Medical University, Moscow, Russian Federation</b> </p> <p> <b>⁷Non-profit partnership International Scientific and Practical Center for the Proliferation of </b><b>Tissues of Russia, Moscow, Russian Federation</b> </p> <p> <br> </p> <p> <i><b>Background</b>: Usher syndrome (USH) is a heterogeneous syndrome characterized by hearing loss and vision loss. …”
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Case of phenotype of optic nerve atrophy due to mutation in С19orf12 gene (neurodegeneration with the brain iron accumulation (nbia)) by M.E. Ivanova, V.V. Kadyshev, D.S. Atarshchikov, I.V. Zolnikova, N.P. Akchurina, N.K. Serova, F.A. Konovalov, E.R. Lozier, E.A. Pomerantseva, N.V. Vetrova, D. Barh, L.M. Balashova, J.M. Salmasi

“…Salmasi¹⁰</b> </p> <p> <b>¹LLC “Oftalmic”, Moscow, Russian Federation</b> </p> <p> <b>²Research Centre for Medical Genetics, Moscow, Russian Federation</b> </p> <p> <b>³Central Clinical Hospital under Presidential Affairs, Moscow, Russian Federation</b> </p> <p> <b>⁴Moscow Helmholtz Research Institute of Eye Diseases, Moscow, Russian Federation</b> </p> <p> <b>⁵N.N. …”
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Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families by Bin Mao, Xiaoling Cai, Na Lin, Yulin Jiang, Na Hao, Yifang Dai, Danhua Guo, Deqin He, Huili Xue, Lingji Chen, Qianqian He, Min Zhang, Meihuan Chen, Hailong Huang, Liangpu Xu

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The value of increasing sequencing depth for noninvasive prenatal screening for whole chromosomal aneuploidy by Dongmei Wang, Fangfang Guo, Yaping Hou, Haishan Peng, Tingting Hu, Jiexia Yang

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Does preeclampsia impact the gut microbiota of preterm offspring during early infancy? by Yang Chen, Zhou-Ting Yi, Hai-Long Yu, Xiao-Yan Wu, Jun-Ping Wang, Chuan Nie, Hui Li, Sheng-Hui Li, Qiu-Long Yan, Tian-Wen He, Min-Chai Chen, Xin-Yue Yang, Ji-Ying Wen, Li-Juan Lv

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SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease by J. M. Ramirez, F. A. Rodríguez, M. I. Echeverría, A. L. Vargas, A. E. Calderón, R. M. Miatello, N. F. Renna

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Molecular and Phylogenetic Analysis of Bovine Papillomavirus Type 1: First Report in Iraqi Cattle by Mohammed A. Hamad, Ahmed M. Al-Shammari, Shoni M. Odisho, Nahi Y. Yaseen

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The role of DNA methylation in the disorders of bone metabolism by B. I. Yalaev, A. V. Tyurin, R. Y. Mirgalieva, R. I. Khusainova

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Editorial: Oncolytic virotherapy, volume II by Ahmed Majeed Al-Shammari, Pier Paolo Piccaluga, Pier Paolo Piccaluga

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Haplotype Analysis of Candidate Genes Involved in Inflammation and Oxidative Stress and the Susceptibility to Preeclampsia by Aiping Chen, Huifang Zhao, Jingli Wang, Ru Zhang, Jingjing Liu, Xin Zhao, Congying Li, Xuewen Jia, Xueying Li, Yan Lin, Mingzhen Guo, Sai Li, Chao Liu, Yuan Li, Shiguo Liu

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Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation by Andrea Ciorba, Virginia Corazzi, Michela Melegatti, Anna Morgan, Giulia Pelliccione, Giorgia Girotto, Stefania Bigoni

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Impact of socio-demographic structure of the deaf people communities in prevalence of hereditary hearing loss by O. L. Posukh, M. S. Bady-Khoo, M. V. Zytsar, V. Yu. Mikhalskaia, S. A. Lashin, N. A. Barashkov, G. P. Romanov

“…Nevertheless, studies of sociodemographic and medical-genetic characteristics of deaf people’s contemporary communities are important for predicting the prevalence of inherited forms of deafness, as well as for understanding the impact of social factors on the evolutionary processes occurring in human populations.…”
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