المؤلفون: Southern, Kevin W., Castellani, Carlo, Lammertyn, Elise, Smyth, Alan, VanDevanter, Donald, van Koningsbruggen-Rietschel, Silke, Barben, Jürg, Bevan, Amanda, Brokaar, Edwin, Collins, Sarah, Connett, Gary J., Daniels, Thomas W.V., Davies, Jane, Declercq, Dimitri, Gartner, Silvia, Gramegna, Andrea, Hamilton, Naomi, Hauser, Jenny, Kashirskaya, Nataliya, Kessler, Laurence, Lowdon, Jacqueline, Makukh, Halyna, Martin, Clémence, Morrison, Lisa, Nazareth, Dilip, Noordhoek, Jacquelien, O'Neill, Ciaran, Owen, Elizabeth, Oxley, Helen, Raraigh, Karen S., Raynal, Caroline, Robinson, Karen, Roehmel, Jobst, Schwarz, Carsten, Sermet, Isabelle, Shteinberg, Michal, Sinha, Ian, Takawira, Constance, van Mourik, Peter, Verkleij, Marieke, Waller, Michael D., Duff, Alistair

وصف الملف: text

العلاقة: https://eprints.soton.ac.uk/487818/1/PIIS1569199322013856.pdfTest; Southern, Kevin W., Castellani, Carlo and Lammertyn, Elise , et al. (2023) Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis. Journal of Cystic Fibrosis, 22 (1), 17-30. (doi:10.1016/j.jcf.2022.10.002 ).

الإتاحة: https://doi.org/10.1016/j.jcf.2022.10.002Test
https://eprints.soton.ac.uk/487818Test/
https://eprints.soton.ac.uk/487818/1/PIIS1569199322013856.pdfTest

المؤلفون: Southern, Kevin, Castellani, Carlo, Lammertyn, Elise, Smyth, Alan, Vandevanter, Donald, van Koningsbruggen-Rietschel, Silke, Barben, Jürg, Bevan, Amanda, Brokaar, Edwin, Collins, Sarah, Connett, Gary, Daniels, Thomas W.V., Davies, Jane, Declercq, Dimitri, Gartner, Silvia, Gramegna, Andrea, Hamilton, Naomi, Hauser, Jenny, Kashirskaya, Nataliya, Kessler, Laurence, Lowdon, Jacqueline, Makukh, Halyna, Martin, Clémence, Morrison, Lisa, Nazareth, Dilip, Noordhoek, Jacquelien, O'Neill, Ciaran, Owen, Elizabeth, Oxley, Helen, Raraigh, Karen, Raynal, Caroline, Robinson, Karen, Roehmel, Jobst, Schwarz, Carsten, Sermet, Isabelle, Shteinberg, Michal, Sinha, Ian, Takawira, Constance, van Mourik, Peter, Verkleij, Marieke, Waller, Michael, Duff, Alistair

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)

المصدر: ISSN: 1569-1993.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-04029667; https://hal.science/hal-04029667Test; https://hal.science/hal-04029667/documentTest; https://hal.science/hal-04029667/file/2023%20%20%20Southern%20et%20al.,%20Standards%20of%20care%20for%20CFTR%20variant.pdfTest

الإتاحة: https://doi.org/10.1016/j.jcf.2022.10.002Test
https://hal.science/hal-04029667Test
https://hal.science/hal-04029667/documentTest
https://hal.science/hal-04029667/file/2023%20%20%20Southern%20et%20al.,%20Standards%20of%20care%20for%20CFTR%20variant.pdfTest

المؤلفون: Munck, Anne, Berger, Daria O., Southern, Kevin W., Carducci, Carla, de Winter-de Groot, Karin M., Gartner, Silvia, Kashirskaya, Nataliya, Linnane, Barry, Proesmans, Marijke, Sands, Dorota, Sommerburg, Olaf, Castellani, Carlo, Barben, Jürg, Renner, Sabine, Zeyda, Max, de Wachter, Elke, Regal, Luc, Votava, Felix, Holubova, Andrea, Skov, Marianne, Morgan, Tessa, Bregeaut, Paul, O'Grady, Loretta, Bucci, Ines, Pantano, Stefano, Simonetti, Simonetta, De Venuto, Domenica, Salvatore, Donatello, Perrotti, Nicola, Caloiero, Mimma, Castaldo, Giuseppe, Tosco, Antonella, Righetti, Francesca, Pisi, Giovanna, Battistini, Fiorella, Angeloni, Antonio, Cimino, Giuseppe, Fiocchi, Giovanni, Angiolillo, Antonella, Cassanello, Michela, Alberti, Luisella, Claut, Laura E, Badolato, Raffaele, Pavanello, Enza, Fabrizzi, Benedetta, Bignamini, Elisabetta, Cardillo, Anna, Lombardo, Mariangela, Cocciadiferro, Letizia, Termini, Lisa, Dolce, Daniela, Terlizzi, Vito, Tamanini, Anna, Pauro, Francesca, la Marca, Giancarlo, Aleksejeva, Elina, Gaidule-Logina, Dita, Fustik, Stoika, Anastasovska, Violeta, Bouva, Marelle, Reid, Alastair, Cundick, Jennifer, Lundman, Emma, Bakkeheim, Egil, Zybert, Katarzyna, Oltarzewski, Mariusz, Vilarinho, Laura, Sherman, Victoria, Kondratyeva, Elena, Smith, Sarah, Dautovic, Gordana Vilotijevic, Knapkova, Maria, Mydlova, Zuzana, López, Rosa M., Velasco, Valle, Flores, Felicitas Díaz, Mejeras, Cristóbal Colón, Pedersen, Eva S.L., Ozcelik, Ugur, Karadag, Bulent, Makukh, Halyna, Stuart, Moat

مصطلحات موضوعية: CFSPID, Carriers, CFTR Gene Analysis, Cystic Fibrosis, IRT, Newborn Bloodspot Screening, PAP, Doenças Genéticas

العلاقة: https://www.sciencedirect.com/science/article/pii/S1569199322006890?via%3DihubTest; J Cyst Fibros. 2022 Nov 10;S1569-1993(22)00689-0. doi:10.1016/j.jcf.2022.09.012. Online ahead of print.; http://hdl.handle.net/10400.18/8589Test

الإتاحة: https://doi.org/10.1016/j.jcf.2022.09.012Test
http://hdl.handle.net/10400.18/8589Test

المؤلفون: Efremova, Anna¹ (AUTHOR) anna.efremova.83@gmail.com, Kashirskaya, Nataliya^1,2 (AUTHOR) sa_krasovsky@mail.ru, Krasovskiy, Stanislav^1,3 (AUTHOR) melcat@mail.ru, Melyanovskaya, Yuliya¹ (AUTHOR) krasnova.m.g.0605@gmail.com, Krasnova, Maria¹ (AUTHOR) diana-mok2000@yandex.ru, Mokrousova, Diana¹ (AUTHOR) natasha.bulatenko@yandex.ru, Bulatenko, Nataliya¹ (AUTHOR) elenafpk@mail.ru, Kondratyeva, Elena¹ (AUTHOR) buben6@yandex.ru, Makhnach, Oleg¹ (AUTHOR) renazinchenko@mail.ru, Bukharova, Tatiana¹ (AUTHOR) kutsev@mail.ru, Zinchenko, Rena¹ (AUTHOR) dvgoldshtein@gmail.com, Kutsev, Sergey¹ (AUTHOR), Goldshtein, Dmitry¹ (AUTHOR)

المصدر: International Journal of Molecular Sciences. Mar2024, Vol. 25 Issue 5, p2770. 14p.

مصطلحات موضوعية: *LUNGS, *CYSTIC fibrosis transmembrane conductance regulator, *INTESTINAL mucosa, *MISSENSE mutation, *BODY mass index, *CYSTIC fibrosis

المؤلفون: Krasnova, Maria, Efremova, Anna, Mokrousova, Diana, Bukharova, Tatiana, Kashirskaya, Nataliya, Kutsev, Sergey, Kondratyeva, Elena, Goldshtein, Dmitry

المصدر: Journal of Personalized Medicine; Feb2024, Vol. 14 Issue 2, p129, 13p

مصطلحات موضوعية: CYSTIC fibrosis transmembrane conductance regulator, ALLELES, INTESTINES, CYSTIC fibrosis, ORGANOIDS

مصطلحات جغرافية: RUSSIA

المؤلفون: Carr, Siobhán B, McClenaghan, Elliot, Elbert, Alexander, Faro, Albert, Cosgriff, Rebecca, Abdrakhmanov, Olzhas, Brownlee, Keith, Burgel, Pierre-Régis, Byrnes, Catherine A, Cheng, Stephanie Y, Colombo, Carla, Corvol, Harriet, Daneau, Géraldine, Goss, Christopher H, Gulmans, Vincent, Gutierrez, Hector, Harutyunyan, Satenik, Helmick, Meagan, Jung, Andreas, Kashirskaya, Nataliya, McKone, Edward, Melo, Joel, Middleton, Peter G, Mondejar-Lopez, Pedro, de Monestrol, Isabelle, Nährlich, Lutz, Padoan, Rita, Parker, Megan, Pastor-Vivero, M Dolores, Rizvi, Samar, Ruseckaite, Rasa, Salvatore, Marco, da Silva-Filho, Luiz Vicente R F, Versmessen, Nick, Zampoli, Marco, Marshall, Bruce C, Stephenson, Anne L, CF Registry Global Collaboration, Gohy, Sophie

المساهمون: UCL - SSS/IREC/PNEU - Pôle de Pneumologie, ORL et Dermatologie, UCL - (SLuc) Service de pneumologie

المصدر: Journal of cystic fibrosis, Vol. 21, no.4, p. e221-e231 (2022)

مصطلحات موضوعية: COVID-19, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Ethnicity, Humans, Minority Groups, Oxygen, SARS-CoV-2, Coronavirus, Transplant

العلاقة: boreal:278176; http://hdl.handle.net/2078.1/278176Test; info:pmid/35753987; urn:ISSN:1569-1993; urn:EISSN:1873-5010

الإتاحة: https://doi.org/10.1016/j.jcf.2022.06.006Test
http://hdl.handle.net/2078.1/278176Test

المؤلفون: Southern, Kevin W., Castellani, Carlo, Lammertyn, Elise, Smyth, Alan, VanDevanter, Donald, van Koningsbruggen-Rietschel, Silke, Barben, Jürg, Bevan, Amanda, Brokaar, Edwin, Collins, Sarah, Connett, Gary J., Daniels, Thomas W.V., Davies, Jane, Declercq, Dimitri, Gartner, Silvia, Gramegna, Andrea, Hamilton, Naomi, Hauser, Jenny, Kashirskaya, Nataliya, Kessler, Laurence, Lowdon, Jacqueline, Makukh, Halyna, Martin, Clémence, Morrison, Lisa, Nazareth, Dilip, Noordhoek, Jacquelien, O'Neill, Ciaran, Owen, Elizabeth, Oxley, Helen, Raraigh, Karen S., Raynal, Caroline, Robinson, Karen, Roehmel, Jobst, Schwarz, Carsten, Sermet, Isabelle, Shteinberg, Michal, Sinha, Ian, Takawira, Constance, van Mourik, Peter, Verkleij, Marieke, Waller, Michael D., Duff, Alistair

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pediatrics, Perinatology and Child Health

العلاقة: https://nottingham-repository.worktribe.com/output/13181522Test; Journal of Cystic Fibrosis; Volume 22; Issue 1; Pagination 17-30; https://nottingham-repository.worktribe.com/file/13181522/1/Standards%20of%20care%20for%20CFTR%20variant-specific%20therapy%20%28including%20modulators%29%20for%20people%20with%20cystic%20fibrosisTest

الإتاحة: https://doi.org/10.1016/j.jcf.2022.10.002Test
https://nottingham-repository.worktribe.com/file/13181522/1/Standards%20of%20care%20for%20CFTR%20variant-specific%20therapy%20%28including%20modulators%29%20for%20people%20with%20cystic%20fibrosisTest
https://nottingham-repository.worktribe.com/output/13181522Test

المؤلفون: Petrova, Nika V., Kashirskaya, Nataliya Y., Vasilyeva, Tatyana A., Balinova, Natalia V., Marakhonov, Andrey V., Kondratyeva, Elena I., Zhekaite, Elena K., Voronkova, Anna Y., Kutsev, Sergey I., Zinchenko, Rena A.

المصدر: BMC Genomics ; volume 23, issue 1 ; ISSN 1471-2164

مصطلحات موضوعية: Genetics, Biotechnology

الإتاحة: https://doi.org/10.1186/s12864-022-08466-zTest

المؤلفون: Nowak, Jan Krzysztof, Wykrętowicz, Andrzej, Mądry, Edyta, Krauze, Tomasz, Drzymała-Czyż, Sławomira, Krzyżanowska-Jankowska, Patrycja, Sobkowiak, Paulina, Schneider, Agata, Goździk-Spychalska, Joanna, Kurek, Szymon, Kononets, Victoria, Kashirskaya, Nataliya, Lisowska, Aleksandra, Walkowiak, Jarosław

المصدر: Journal of Cystic Fibrosis ; volume 21, issue 1, page 26-33 ; ISSN 1569-1993

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.jcf.2021.06.010Test
https://api.elsevier.com/content/article/PII:S1569199321012947?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1569199321012947?httpAccept=text/plainTest

المؤلفون: Colombo, Carla, Alicandro, Gianfranco, Oliver, Mark, Lewindon, Peter J, Ramm, Grant A, Ooi, Chee Y., Alghisi, Federico, Kashirskaya, Nataliya, Kondratyeva, Elena, Corti, Fabiola, Padoan, Rita, Asherova, Irina, Evans, Helen, de Monestrol, Isabelle, Strandvik, Birgitta, Lindblad, Anders

المصدر: Journal of Cystic Fibrosis ; volume 21, issue 2, page 220-226 ; ISSN 1569-1993

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.jcf.2021.03.014Test
https://api.elsevier.com/content/article/PII:S1569199321000904?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1569199321000904?httpAccept=text/plainTest