Výsledky vyhledávání - Nadia Schoenmakers

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  1. 1
    Recent advances in central congenital hypothyroidism

    Recent advances in central congenital hypothyroidism Autor Nadia Schoenmakers, Kyriaki S. Alatzoglou, Krishna Chatterjee, Mehul Dattani

    Vydáno 2015
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  2. 2
    DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives

    DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives Autor Catherine Peters, A.S. Paul van Trotsenburg, Nadia Schoenmakers

    Vydáno 2018
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  3. 3
    Genetics of primary Congenital Hypothyroidism: Three decades of discoveries and persisting etiological challenges

    Genetics of primary Congenital Hypothyroidism: Three decades of discoveries and persisting etiological challenges Autor Athanasia Stoupa, Aurore Carré, Michel Polak, Gabor Szinnai, Nadia Schoenmakers

    Vydáno 2025
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  4. 4
    Genetic disorders of thyroid development, hormone biosynthesis and signalling

    Genetic disorders of thyroid development, hormone biosynthesis and signalling Autor Carla Moran, Nadia Schoenmakers, W. Edward Visser, Erik Schoenmakers, Maura Agostini, Krishna Chatterjee

    Vydáno 2022
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  5. 5
    Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

    Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism Autor Zehra Aycan, Hakan Cangül, Marina Muzza, Veysel Nijat Baş, Laura Fugazzola, Krishna Chatterjee, Luca Persani, Nadia Schoenmakers

    Vydáno 2017
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  6. 6
    <i>DUOX2</i>/<i>DUOXA2</i> Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom

    <i>DUOX2</i>/<i>DUOXA2</i> Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom Autor Catherine Peters, Adeline K. Nicholas, Erik Schoenmakers, Greta Lyons, Shirley Langham, Eva Serra, Neil J. Sebire, Marina Muzza, Laura Fugazzola, Nadia Schoenmakers

    Vydáno 2019
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  7. 7
    2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism

    2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism Autor Luca Persani, Georg Brabant, Mehul Dattani, Marco Bonomi, Ulla Feldt‐Rasmussen, Eric Fliers, Annette Grüters, Dominique Maiter, Nadia Schoenmakers, A.S. Paul van Trotsenburg

    Vydáno 2018
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  8. 8
    The Clinical and Molecular Characterization of Patients With Dyshormonogenic Congenital Hypothyroidism Reveals Specific Diagnostic Clues for DUOX2 Defects

    The Clinical and Molecular Characterization of Patients With Dyshormonogenic Congenital Hypothyroidism Reveals Specific Diagnostic Clues for DUOX2 Defects Autor Marina Muzza, Sarah Rabbiosi, Maria Cristina Vigone, I. Zamproni, Valentina Cirello, Maria Antonia Maffini, Katia Maruca, Nadia Schoenmakers, Luciano Beccaria, Francesco Gallo, S.-M. Park, P. Beck‐Peccoz, Luca Persani, Giovanna Weber, Laura Fugazzola

    Vydáno 2014
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  9. 9
    Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients

    Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients Autor Carla Moran, Maura Agostini, W. Edward Visser, Erik Schoenmakers, Nadia Schoenmakers, Amaka C Offiah, Ken Poole, Odelia Rajanayagam, Greta Lyons, David Halsall, Mark Gurnell, Dionisios Chrysis, Alexandra Efthymiadou, Charles Buchanan, Simon Aylwin, Krishna Chatterjee

    Vydáno 2014
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  10. 10
    Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

    Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis Autor Erik Schoenmakers, Bradley A. Carlson, Maura Agostini, Carla Moran, Odelia Rajanayagam, Elena G. Bochukova, Ryuta Tobe, Rachel A. Peat, Evelien Gevers, Francesco Muntoni, Pascale Guicheney, Nadia Schoenmakers, I. Sadaf Farooqi, Greta Lyons, Dolph L. Hatfield, Krishna Chatterjee

    Vydáno 2016
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  11. 11
    An Adult Female With Resistance to Thyroid Hormone Mediated by Defective Thyroid Hormone Receptor α

    An Adult Female With Resistance to Thyroid Hormone Mediated by Defective Thyroid Hormone Receptor α Autor Carla Moran, Nadia Schoenmakers, Maura Agostini, Erik Schoenmakers, Amaka C Offiah, A. Kydd, G. Kahaly, Susan Mohr-Kahaly, Odelia Rajanayagam, Greta Lyons, Nicholas J. Wareham, David Halsall, Mehul Dattani, Stephen G. Hughes, Mark Gurnell, Soo‐Mi Park, Krishna Chatterjee

    Vydáno 2013
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  12. 12
    IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

    IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management Autor Sjoerd D. Joustra, Charlotte A. Heinen, Nadia Schoenmakers, Marco Bonomi, Bart E.P.B. Ballieux, Marc‐Olivier Turgeon, Daniel J. Bernard, Eric Fliers, A.S. Paul van Trotsenburg, Monique Losekoot, Luca Persani, Jan M. Wit, Nienke R. Biermasz, Alberto M. Pereira, Wilma Oostdijk

    Vydáno 2016
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  13. 13
    Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia

    Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia Autor Catherine S. Mitchell, David B. Savage, Sylvie Dufour, Nadia Schoenmakers, Peter R. Murgatroyd, Douglas E. Befroy, David Halsall, Samantha Northcott, Philippa Raymond‐Barker, Suzanne Curran, Elana Henning, Julia M. Keogh, Penny Owen, John H. Lazarus, Douglas L. Rothman, I. Sadaf Farooqi, Gerald I. Shulman, Krishna Chatterjee, Kitt Falk Petersen

    Vydáno 2010
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  14. 14
    A Mutation in the Thyroid Hormone Receptor Alpha Gene

    A Mutation in the Thyroid Hormone Receptor Alpha Gene Autor Elena G. Bochukova, Nadia Schoenmakers, Maura Agostini, Erik Schoenmakers, Odelia Rajanayagam, Julia M. Keogh, Elana Henning, Jana Reinemund, Evelien Gevers, Margarita Sarri, Kate Downes, Amaka C Offiah, Assunta Albanese, David Halsall, John W. R. Schwabe, Murray Bain, Keith Lindley, Francesco Muntoni, Faraneh Vargha‐Khadem, Mehul Dattani, I. Sadaf Farooqi, Mark Gurnell, Krishna Chatterjee

    Vydáno 2011
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  15. 15
    Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

    Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism Autor Hakan Cangül, Xiao-Hui Liao, Erik Schoenmakers, Jukka Kero, Sharon Barone, Panudda Srichomkwun, Hideyuki Iwayama, Eva Serra, Halil Sağlam, Erdal Eren, Ömer Tarım, Adeline K. Nicholas, Ilona Zvetkova, Carl A. Anderson, Fiona E. Karet, Kristien Boelaert, Marja Ojaniemi, Jarmo Jääskeläinen, Konrad Patyra, Christoffer Löf, E. D. Williams, Manoocher Soleimani, Timothy Barrett, Eamonn R. Maher, Krishna Chatterjee, Samuel Refetoff, Nadia Schoenmakers

    Vydáno 2018
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  16. 16
    The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients

    The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients Autor Sjoerd D. Joustra, Nadia Schoenmakers, Luca Persani, Irene Campi, Marco Bonomi, Giorgio Radetti, P. Beck‐Peccoz, Hongdong Zhu, Timothy M. E. Davis, Yu Sun, Eleonora P.M. Corssmit, Natasha M. Appelman‐Dijkstra, Charlotte A. Heinen, Alberto M. Pereira, Aimee J. Varewijck, J. A. M. J. L. Janssen, Erik Endert, Raoul C. M. Hennekam, Maria Lombardi, Marcel M.A.M. Mannens, Beata Bąk, Daniel J. Bernard, M.H. Breuning, Krishna Chatterjee, Mehul Dattani, Wilma Oostdijk, Nienke R. Biermasz, Jan M. Wit, A.S. Paul van Trotsenburg

    Vydáno 2013
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  17. 17
    Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

    Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ Autor Adeline K. Nicholas, Eva Serra, Hakan Cangül, Saif Al-Yaarubi, Irfan Ullah, Erik Schoenmakers, Asma Deeb, Abdelhadi Habeb, Mohammad S. Al-Maghamsi, Catherine Peters, Nisha Nathwani, Zehra Aycan, Halil Sağlam, Ece Böber, Mehul Dattani, Savitha Shenoy, Philip Murray, Amir Babiker, Ruben H. Willemsen, Ajay Thankamony, Greta Lyons, Rachael Irwin, Raja Padidela, Kavitha Tharian, Justin H. Davies, Vijith Puthi, Soo‐Mi Park, Ahmed F. Massoud, John W Gregory, Assunta Albanese, Evelien Pease-Gevers, Howard Martin, Kim Brügger, Eamonn R. Maher, Krishna Chatterjee, Carl A. Anderson, Nadia Schoenmakers

    Vydáno 2016
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  18. 18
    Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

    Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans Autor Erik Schoenmakers, Maura Agostini, Catherine Mitchell, Nadia Schoenmakers, Laura V. Papp, Odelia Rajanayagam, Raja Padidela, Lourdes Ceron‐Gutierrez, Rainer Döffinger, Claudia Prevosto, Jian’an Luan, Sergio Montaño, Jun Lu, Mireille Castanet, Nicholas J. Clemons, Matthijs Groeneveld, Perrine Castets, Mahsa Karbaschi, Sri W. Aitken, Adrian Dixon, Jane Williams, Irene Campi, Margaret Blount, H. Burton, Francesco Muntoni, Dominic G. O’Donovan, Andrew Dean, A Jane Warren, Charlotte Brierley, David Baguley, Pascale Guicheney, Rebecca C. Fitzgerald, Alasdair Coles, Hill Gaston, Pamela Todd, Arne Holmgren, Kum Kum Khanna, Marcus S. Cooke, Robert K. Semple, David Halsall, Nicholas J. Wareham, John W. R. Schwabe, L. Grasso, Paolo Beck‐Peccoz, Arthur Ogunko, Mehul Dattani, Mark Gurnell, Krishna Chatterjee

    Vydáno 2010
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  19. 19
    Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

    Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement Autor Yu Sun, Beata Bąk, Nadia Schoenmakers, A.S. Paul van Trotsenburg, Wilma Oostdijk, Peter J. Voshol, Emma L. Cambridge, Jacqueline K. White, Paul Le Tissier, S. Neda Mousavy Gharavy, Juan Pedro Martı́nez-Barberá, Wilhelmina H. Stokvis‐Brantsma, Thomas Vulsma, Marlies Kempers, Luca Persani, Irene Campi, Marco Bonomi, Paolo Beck‐Peccoz, Hongdong Zhu, Timothy M. E. Davis, Anita Hokken-Koelega, Darya Gorbenko del Blanco, Jayanti Rangasami, Claudia Ruivenkamp, Jeroen F. J. Laros, Marjolein Kriek, Sarina G. Kant, Cathy A.J. Bosch, Nienke R. Biermasz, Natasha M. Appelman‐Dijkstra, Eleonora P.M. Corssmit, Guido C. Hovens, Alberto M. Pereira, Johan T. den Dunnen, Michael G. Wade, Martijn H. Breuning, Raoul C. M. Hennekam, Krishna Chatterjee, Mehul Dattani, Jan M. Wit, Daniel J. Bernard

    Vydáno 2012
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  20. 20
    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms Autor Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard W. Dougherty, Ideke J.C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Képès, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, Saeed Al-Turki, Carl E. Anderson, Dinu Antony, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebahattin Çirak, Catherine Cosgrove, Petr Danecek, Richard Durbin, David Fitzpatrick, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Steve E. Humphries, Matt Hurles, Christopher Joyce, Shane McCarthy, Hannah M. Mitchison, Dawn Muddyman, Francesco Muntoni, Stephen O’Rahilly, Alexandros Onoufriadis, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Ros Whittall, Kathy Williamson

    Vydáno 2016
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