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Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation
Peña‐Quintana, L., Scherer, G., Curbelo‐Estévez, M.L., Jiménez‐Acosta, F., Hartmann, B., La Roche, F., Meavilla‐Olivas, S., Pérez‐Cerdá, C., García‐Segarra, N., Giguère, Y., Huppke, P., Mitchell, G.A., Mönch, E., Trump, D., Vianey‐Saban, C., Trimble, E.R., Vitoria‐Miñana, I., Reyes‐Suárez, D., Ramírez‐Lorenzo, T., Tugores, A.
Published in Clinical genetics (01.09.2017)
Published in Clinical genetics (01.09.2017)
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Journal Article
F02 A cluster of HD in italy with several subjects carrying cag expansion homozygousity in different generations and genetic risk over 50
Squitieri, Ferdinando, Dema, Maria Giovanna, Borrelli, Cristiana, Consoli, Federica, De Luca, Alessandro, Migliore, Simone
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2018)
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Journal Article
Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation
Narula, Mansi, Lakshmanan, Uma, Borna, Simon, Schulze, Janika J., Holmes, Tyson H., Harre, Nicholas, Kirkey, Matthew, Ramachandran, Akshaya, Tagi, Veronica Maria, Barzaghi, Federica, Grunebaum, Eyal, Upton, Julia E.M., Hong-Diep Kim, Vy, Wysocki, Christian, Dimitriades, Victoria R., Weinberg, Kenneth, Weinacht, Katja G., Gernez, Yael, Sathi, Bindu K., Schelotto, Magdalena, Johnson, Matthew, Olek, Sven, Sachsenmaier, Christoph, Roncarolo, Maria-Grazia, Bacchetta, Rosa
Published in Journal of allergy and clinical immunology (01.01.2023)
Published in Journal of allergy and clinical immunology (01.01.2023)
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Journal Article
Extracellular Prion Protein Aggregates in Nine Gerstmann–Sträussler–Scheinker Syndrome Subjects with Mutation P102L: A Micromorphological Study and Comparison with Literature Data
Jankovska, Nikol, Matej, Radoslav, Olejar, Tomas
Published in International journal of molecular sciences (10.12.2021)
Published in International journal of molecular sciences (10.12.2021)
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Journal Article
Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation
Clancy, J P, Rowe, Steven M, Accurso, Frank J, Aitken, Moira L, Amin, Raouf S, Ashlock, Melissa A, Ballmann, Manfred, Boyle, Michael P, Bronsveld, Inez, Campbell, Preston W, De Boeck, Kris, Donaldson, Scott H, Dorkin, Henry L, Dunitz, Jordan M, Durie, Peter R, Jain, Manu, Leonard, Anissa, McCoy, Karen S, Moss, Richard B, Pilewski, Joseph M, Rosenbluth, Daniel B, Rubenstein, Ronald C, Schechter, Michael S, Botfield, Martyn, Ordoñez, Claudia L, Spencer-Green, George T, Vernillet, Laurent, Wisseh, Steve, Yen, Karl, Konstan, Michael W
Published in Thorax (01.01.2012)
Published in Thorax (01.01.2012)
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Journal Article
‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
Boissé Lomax, Lysa, Bayly, Marta A., Hjalgrim, Helle, Møller, Rikke S., Vlaar, Annemarie M., Aaberg, Kari M., Marquardt, Iris, Gandolfo, Luke C., Willemsen, Michèl, Kamsteeg, Erik-Jan, O’Sullivan, John D., Korenke, G. Christoph, Bloem, Bastiaan R., de Coo, Irenaeus F., Verhagen, Judith M. A., Said, Ines, Prescott, Trine, Stray-Pedersen, Asbjørg, Rasmussen, Magnhild, Vears, Danya F., Lehesjoki, Anna-Elina, Corbett, Mark A., Bahlo, Melanie, Gecz, Jozef, Dibbens, Leanne M., Berkovic, Samuel F.
Published in Brain (London, England : 1878) (01.04.2013)
Published in Brain (London, England : 1878) (01.04.2013)
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Journal Article
Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials
Maguire, Albert M, Russell, Stephen, Wellman, Jennifer A, Chung, Daniel C, Yu, Zi-Fan, Tillman, Amy, Wittes, Janet, Pappas, Julie, Elci, Okan, Marshall, Kathleen A, McCague, Sarah, Reichert, Hannah, Davis, Maria, Simonelli, Francesca, Leroy, Bart P, Wright, J Fraser, High, Katherine A, Bennett, Jean
Published in Ophthalmology (Rochester, Minn.) (01.09.2019)
Published in Ophthalmology (Rochester, Minn.) (01.09.2019)
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Journal Article
Leber's Hereditary Optic Neuropathy Arising From the Synergy Between ND1 3635G>A Mutation and Mitochondrial YARS2 Mutations
Jin, Xiaofen, Zhang, Juanjuan, Yi, Qiuzi, Meng, Feilong, Yu, Jialing, Ji, Yanchun, Mo, Jun Q., Tong, Yi, Jiang, Pingping, Guan, Min-Xin
Published in Investigative ophthalmology & visual science (01.06.2021)
Published in Investigative ophthalmology & visual science (01.06.2021)
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Journal Article
Human blood PIG‐A mutation and micronucleated reticulocyte flow cytometric assays: Method optimization and evaluation of intra‐ and inter‐subject variation
Torous, Dorothea K., Avlasevich, Svetlana L., Khattab, Mona G., Baig, Ayesha, Saubermann, Lawrence J., Chen, Yuhchyau, Bemis, Jeffrey C., Lovell, David P., Walker, Vernon E., MacGregor, James T., Dertinger, Stephen D.
Published in Environmental and molecular mutagenesis (01.10.2020)
Published in Environmental and molecular mutagenesis (01.10.2020)
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Journal Article
Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation
Libard, Sylwia, Giedraitis, Vilmantas, Kilander, Lena, Ingelsson, Martin, Alafuzoff, Irina
Published in Journal of Alzheimer's disease (01.01.2022)
Published in Journal of Alzheimer's disease (01.01.2022)
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Journal Article
Evaluation of glycemic status and subclinical atherosclerosis in familial hypercholesterolemia subjects with or without LDL receptor mutation
Di Giacomo Barbagallo, Francesco, Bosco, Giosiana, Di Marco, Maurizio, Scilletta, Sabrina, Miano, Nicoletta, Musmeci, Marco, Martedì, Marina, González-Lleó, Ana M., Ibarretxe, Daiana, De Francesco, Ernestina Marianna, Malaguarnera, Roberta, Di Pino, Antonino, Masana, Luís, Purrello, Francesco, Piro, Salvatore, Scicali, Roberto
Published in Cardiovascular diabetology (20.03.2025)
Published in Cardiovascular diabetology (20.03.2025)
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Journal Article
Defective WNT signaling may protect from articular cartilage deterioration – a quantitative MRI study on subjects with a heterozygous WNT1 mutation
Lehtovirta, S., Mäkitie, R.E., Casula, V., Haapea, M., Niinimäki, J., Niinimäki, T., Peuna, A., Lammentausta, E., Mäkitie, O., Nieminen, M.T.
Published in Osteoarthritis and cartilage (01.11.2019)
Published in Osteoarthritis and cartilage (01.11.2019)
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Journal Article
Lipid-lowering response in subjects with the p.(Leu167del) mutation in the APOE gene
Bea, Ana M., Lamiquiz-Moneo, Itziar, Marco-Benedí, Victoria, Mateo-Gallego, Rocio, Pérez-Calahorra, Sofía, Jarauta, Estíbaliz, Martín, César, Cenarro, Ana, Civeira, Fernando
Published in Atherosclerosis (01.03.2019)
Published in Atherosclerosis (01.03.2019)
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Journal Article
Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects
Hasselberg, Nina E., Edvardsen, Thor, Petri, Helle, Berge, Knut E., Leren, Trond P., Bundgaard, Henning, Haugaa, Kristina H.
Published in Europace (London, England) (01.04.2014)
Published in Europace (London, England) (01.04.2014)
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Journal Article
Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy
Göös, Helka, Fogarty, Christopher L., Sahu, Biswajyoti, Plagnol, Vincent, Rajamäki, Kristiina, Nurmi, Katariina, Liu, Xiaonan, Einarsdottir, Elisabet, Jouppila, Annukka, Pettersson, Tom, Vihinen, Helena, Krjutskov, Kaarel, Saavalainen, Päivi, Järvinen, Asko, Muurinen, Mari, Greco, Dario, Scala, Giovanni, Curtis, James, Nordström, Dan, Flaumenhaft, Robert, Vaarala, Outi, Kovanen, Panu E., Keskitalo, Salla, Ranki, Annamari, Kere, Juha, Lehto, Markku, Notarangelo, Luigi D., Nejentsev, Sergey, Eklund, Kari K., Varjosalo, Markku, Taipale, Jussi, Seppänen, Mikko R.J.
Published in Journal of allergy and clinical immunology (01.11.2019)
Published in Journal of allergy and clinical immunology (01.11.2019)
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Journal Article
Analysis of HDL-microRNA panel in heterozygous familial hypercholesterolemia subjects with LDL receptor null or defective mutation
Scicali, Roberto, Di Pino, Antonino, Pavanello, Chiara, Ossoli, Alice, Strazzella, Arianna, Alberti, Antonia, Di Mauro, Stefania, Scamporrino, Alessandra, Urbano, Francesca, Filippello, Agnese, Piro, Salvatore, Rabuazzo, Agata Maria, Calabresi, Laura, Purrello, Francesco
Published in Scientific reports (30.12.2019)
Published in Scientific reports (30.12.2019)
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Journal Article
Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTR Mutation
Accurso, Frank J, Rowe, Steven M, Clancy, J.P, Boyle, Michael P, Dunitz, Jordan M, Durie, Peter R, Sagel, Scott D, Hornick, Douglas B, Konstan, Michael W, Donaldson, Scott H, Moss, Richard B, Pilewski, Joseph M, Rubenstein, Ronald C, Uluer, Ahmet Z, Aitken, Moira L, Freedman, Steven D, Rose, Lynn M, Mayer-Hamblett, Nicole, Dong, Qunming, Zha, Jiuhong, Stone, Anne J, Olson, Eric R, Ordoñez, Claudia L, Campbell, Preston W, Ashlock, Melissa A, Ramsey, Bonnie W
Published in The New England journal of medicine (18.11.2010)
Published in The New England journal of medicine (18.11.2010)
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Journal Article