Search Results - "monogenism"

Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism by Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová, Daniel Böhmer

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OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT by Peiwen Xu, Lijuan Wang, Jing Li, Sexin Huang, Ming Gao, Ranran Kang, Jie Li, Hongqiang Xie, Xiaowei Liu, Junhao Yan, Xuan Gao, Yuan Gao

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Genetic and genomics in congenital heart disease: a clinical review by Aline Saliba, Ana Carolina Vaqueiro Figueiredo, José Eduardo Baroneza, Jorge Yuseff Afiune, Aline Pic-Taylor, Silviene Fabiana de Oliveira, Juliana Forte Mazzeu

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Role of IL6 -174 G/C, IL10 1082G/A and IL10 -592C/A in the pathogenesis of keratoconus and development of recurrent erosion in Ukrainian patients with lattice corneal dystrophy by Livshits L.A, Drozhzhyna G.I, Kucherenko A.M, Ivanovska O.V, Gaidamaka T.B, Gorodna O.V, Sereda K.V

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Trio-based whole exome sequencing in patients with ectopic posterior pituitary by Arthur Lyra, Itatiana Ferreira Rodart, Lara Barros, Tatiane Sousa e Silva, Antônio José da Rocha, Cristiane Kochi, Carlos Alberto Longui

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Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era by Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah, Melita Irving

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Phenotypic diversity in beta-HbE thalassemia patients by Pustika Amalia Wahidiyat, Djajadiman Gatot, Tenny Tjitrasari, Harapan Parlindungan Ringoringo, N S Marzuki, R A Taufani, I Setianingsih, A Harahap

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Trastornos autoinflamatorios de la queratinización by A. Peña-Rosado, N. Riera-Martí, V. Expósito-Serrano, J. Romaní

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Identification of novel variants in HNF1-alpha gene in maturity onset diabetes in young adults (MODY) subjects of Eastern India by Chaitry Ghosal, Kaushik Pandit, Aditi Sen, Subhadip Choudhuri, Abu Hena Hasanoor Reja, Dipanwita Ray, Subhankar Chowdhury, Basudev Bhattacharya

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Molecular reductions in glucokinase activity increase counter-regulatory responses to hypoglycemia in mice and humans with diabetes by Ali J. Chakera, Paul S. Hurst, Gill Spyer, Emmanuel O. Ogunnowo-Bada, William J. Marsh, Christine H. Riches, Chen-Yu Yueh, S. Pauliina Markkula, Jeffrey W. Dalley, Roger D. Cox, Ian A. Macdonald, Stephanie A. Amiel, Kenneth M. MacLeod, Lora K. Heisler, Andrew T. Hattersley, Mark L. Evans

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Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency by Yao Zhou, Xinxing Jiang, Yongfang Zhang, Yu Zhang, Fei Sun, Yanlin Ma

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Candidate gene variant effects on language disorders in Robinson Crusoe Island by Hayley S. Mountford, Pía Villanueva, María Angélica Fernández, Zulema De Barbieri, Jean-Baptiste Cazier, Dianne F. Newbury

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Detection of fetal trisomy and single gene disease by massively parallel sequencing of extracellular vesicle DNA in maternal plasma: a proof-of-concept validation by Weiting Zhang, Sen Lu, Dandan Pu, Haiping Zhang, Lin Yang, Peng Zeng, Fengxia Su, Zhichao Chen, Mei Guo, Ying Gu, Yanmei Luo, Huamei Hu, Yanping Lu, Fang Chen, Ya Gao

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Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension by Krusius Tom, Virtamo Jarmo, Miettinen Helena E, Piippo Kirsi, Fodstad Heidi, Helin Karri, Fyhrquist Frej, Tikkanen Tuula, Tikkanen Ilkka, Kontula Kimmo, Hannila-Handelberg Tuula, Sarna Seppo, Gautschi Ivan, Schild Laurent, Hiltunen Timo P

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Host genetic susceptibility underlying SARS-CoV-2-associated Multisystem Inflammatory Syndrome in Brazilian Children by Cíntia Barros Santos-Rebouças, Rafael Mina Piergiorge, Cristina dos Santos Ferreira, Raquel de Seixas Zeitel, Alexandra Lehmkuhl Gerber, Marta Cristine Felix Rodrigues, Ana Paula de Campos Guimarães, Rodrigo Moulin Silva, Adriana Rodrigues Fonseca, Rangel Celso Souza, Ana Tereza Antunes Monteiro de Souza, Átila Duque Rossi, Luís Cristóvão de Moraes Sobrino Porto, Cynthia Chester Cardoso, Ana Tereza Ribeiro de Vasconcelos

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Ageing contributes to phenotype transition in a mouse model of periodic paralysis by Karen J. Suetterlin, S. Veronica Tan, Roope Mannikko, Rahul Phadke, Michael Orford, Simon Eaton, Avan A. Sayer, Miranda D. Grounds, Emma Matthews, Linda Greensmith, Michael G. Hanna

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Pharmacological Modulation of Ion Channels for the Treatment of Cystic Fibrosis by Pinto MC, Silva IAL, Figueira MF, Amaral MD, Lopes-Pacheco M

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Unannotated single nucleotide polymorphisms in the TATA box of erythropoiesis genes show in vitro positive involvements in cognitive and mental disorders by Mikhail Ponomarenko, Ekaterina Sharypova, Irina Drachkova, Irina Chadaeva, Olga Arkova, Olga Podkolodnaya, Petr Ponomarenko, Nikolay Kolchanov, Ludmila Savinkova

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Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing by Anett Illés, Henriett Pikó, Kristóf Árvai, Veronika Donka, Olívia Szepesi, János Kósa, Péter Lakatos, Artúr Beke

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Pharmacogenomics and Personalized Medicine in Type 2 Diabetes Mellitus: Potential Implications for Clinical Practice by Venkatachalapathy P, Padhilahouse S, Sellappan M, Subramanian T, Kurian SJ, Miraj SS, Rao M, Raut AA, Kanwar RK, Singh J, Khadanga S, Mondithoka S, Munisamy M

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