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New molecular players facilitating Mg(2+) reabsorption in the distal convoluted tubule.

Autor: Glaudemans B (AUTHOR), Knoers NV (AUTHOR), Hoenderop JG (AUTHOR), Bindels RJ (AUTHOR), Glaudemans, Bob¹ (AUTHOR), Knoers, Nine V A M (AUTHOR), Hoenderop, Joost G J (AUTHOR), Bindels, René J M (AUTHOR)

Publikováno v: Kidney International. Jan2010, Vol. 77 Issue 1, p17-22. 6p.

Gitelman syndrome.

Autor: Knoers NV, Levtchenko EN, Knoers, Nine V A M, Levtchenko, Elena N

Publikováno v: Orphanet Journal of Rare Diseases; 2008, Vol. 3, p22-22, 1p

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Autor: Stephen W. Scherer, Mònica Gratacòs, Kari Stefansson, Muriel Holder, Unnur Thorsteinsdottir, Lukas Forer, Katharina M. Roetzer, Josette Lucas, Claudia Schurmann, Satu Kaksonen, Armand Valsesia, Carina Wallgren-Pettersson, Barbara Leube, Alexandra I. F. Blakemore, Alexandre Moerman, Marco Belfiore, Anne Faudet, Dominique Gaillard, Roberto Ravazzolo, Dominique Bonneau, Marjo-Riitta Järvelin, Yongguo Yu, Louis Vallée, Bénédicte Demeer, Sophie Visvikis-Siest, Frédérique Béna, Brigitte H. W. Faas, Benoit Arveiler, Georg Homuth, Charles Coutton, Bénédicte de Fréminville, Giorgio Gimelli, Xavier Estivill, Richard I. Fisher, Stefania Gimelli, Wendy Roberts, Jacques S. Beckmann, Emilie Landais, Orah S. Platt, Robin G. Walters, Gudmar Thorleifsson, Alexandre Reymond, Anna-Liisa Hartikainen, Solenn Legallic, James F. Gusella, Peter Vollenweider, Gian Paolo Ramelli, Tõnu Esko, Boris Keren, Nine V A M Knoers, Fanny Morice-Picard, Dominique Campion, Odile Boute, Evica Rajcan-Separovic, Rolph Pfundt, Nathalie Bednarek, Martine Doco-Fenzy, Suzanne M E Lewis, Gérard Didelot, Mylène Beri, Engilbert Sigurdsson, Véronique Satre, Audrey Labalme, Carola Tengstrom, Florian Kronenberg, Florence Petit, Simon Zwolinksi, Philippe Froguel, Paul Elliott, Dorothée Cailley, Christian R. Marshall, Bruno Leheup, Klaus Dieterich, Janina S. Ried, Sylvie Jaillard, Armand Bottani, Stylianos E. Antonarakis, Elisabetta Lapi, Jean-Christophe Cuvellier, Robert M. Witwicki, Gérard Waeber, Christèle Dubourg, Marion Gérard, Lachlan J. M. Coin, Magalie Barth, Anita Kloss-Brandstätter, Vincent Mooser, Cristóbal Richart, Giuseppe Merla, Bénédicte Duban-Bedu, Yiping Shen, Ants Kurg, Audrey Guilmatre, Juliane Hoyer, Susana Jiménez-Murcia, Mafalda Mucciolo, Bai-Lin Wu, Alessandra Ferrarini, Séverine Drunat, Yves Alembik, Páll Magnússon, Han G. Brunner, Maria Antonietta Mencarelli, Dominique Descamps, R. Frank Kooy, Azzedine Aboura, Valérie Layet, Sven Bergmann, Thomas Meitinger, Peter M. Kroisel, Nathalie Van der Aa, Olivier Guillin, Michèle Mathieu-Dramard, Zoltán Kutalik, Elisabeth Flori, Laurent Pasquier, André Reis, Noam D. Beckmann, Bertrand Isidor, Delphine Héron, Philippe Jonveaux, Sergi Villatoro Gomez, Ann Nordgren, José Manuel Fernández-Real, Florence Fellmann, Fernando Fernández-Aranda, Laurence Faivre, Dimitri J. Stavropoulos, Katrin Männik, Christian Gieger, Evald Saemundsen, Agnès Guichet, Jean-Marie Cuisset, R. Touraine, Laura Bernardini, Marie-Ange Delrue, Alessandra Renieri, Omar Gustafsson, Flore Zufferey, David A. Koolen, Massimiliano Rossi, Jacqueline Chrast, Ghislaine Plessis, Faida Walha, Joris Andrieux, Ellen van Binsbergen, Albert David, Catherine Vincent-Delorme, Cédric Le Caignec, Jean Chiesa, Ndeye Coumba Ndiaye, Geraldine Joly Helas, Damien Sanlaville, Anita Rauch, Louise Harewood, Mark I. McCarthy, Bridget A. Fernandez, Sébastien Jacquemont, Hreinn Stefansson, Anneke T. Vulto-van Silfhout, Zdenek Jaros, Matthias Nauck, Hans J. Grabe, Sonia Bouquillon, Mieke M. van Haelst, Andres Metspalu, Loyse Hippolyte, Patrick Callier, Bert B.A. de Vries, Francisco J. Tinahones, Nicole de Leeuw, Julia S. El-Sayed Moustafa, Claudine Rieubland, Kay D. MacDermot, Vittoria Disciglio, Henry Völzke, Caroline Rooryck, Bettina Blaumeiser, Danielle Martinet, Marie-Claude Addor, Bruno Delobel

Publikováno v: Nature, 478, 97-U111. Nature Publishing Group
Nature, 478, 7367, pp. 97-102
Jacquemont, S, Reymond, A, Zufferey, F, Harewood, L, Walters, R G, Kutalik, Z, Martinet, D, Shen, Y, Valsesia, A, Beckmann, N D, Thorleifsson, G, Belfiore, M, Bouquillon, S, Campion, D, de Leeuw, N, de Vries, B B A, Esko, T, Fernandez, B A, Fernández-Aranda, F, Fernández-Real, J M, Gratacòs, M, Guilmatre, A, Hoyer, J, Jarvelin, M-R, Kooy, R F, Kurg, A, Le Caignec, C, Männik, K, Platt, O S, Sanlaville, D, Van Haelst, M M, Villatoro Gomez, S, Walha, F, Wu, B-L, Yu, Y, Aboura, A, Addor, M-C, Alembik, Y, Antonarakis, S E, Arveiler, B, Barth, M, Bednarek, N, Béna, F, Bergmann, S, Beri, M, Bernardini, L, Blaumeiser, B, Bonneau, D, Bottani, A, Boute, O, Brunner, H G, Cailley, D, Callier, P, Chiesa, J, Chrast, J, Coin, L, Coutton, C, Cuisset, J-M, Cuvellier, J-C, David, A, de Freminville, B, Delobel, B, Delrue, M-A, Demeer, B, Descamps, D, Didelot, G, Dieterich, K, Disciglio, V, Doco-Fenzy, M, Drunat, S, Duban-Bedu, B, Dubourg, C, El-Sayed Moustafa, J S, Elliott, P, Faas, B H W, Faivre, L, Faudet, A, Fellmann, F, Ferrarini, A, Fisher, R, Flori, E, Forer, L, Gaillard, D, Gerard, M, Gieger, C, Gimelli, S, Gimelli, G, Grabe, H J, Guichet, A, Guillin, O, Hartikainen, A-L, Heron, D, Hippolyte, L, Holder, M, Homuth, G, Isidor, B, Jaillard, S, Jaros, Z, Jiménez-Murcia, S, Helas, G J, Jonveaux, P, Kaksonen, S, Keren, B, Kloss-Brandstätter, A, Knoers, N V A M, Koolen, D A, Kroisel, P M, Kronenberg, F, Labalme, A, Landais, E, Lapi, E, Layet, V, Legallic, S, Leheup, B, Leube, B, Lewis, S, Lucas, J, MacDermot, K D, Magnusson, P, Marshall, C, Mathieu-Dramard, M, McCarthy, M I, Meitinger, T, Mencarelli, M A, Merla, G, Moerman, A, Mooser, V, Morice-Picard, F, Mucciolo, M, Nauck, M, Ndiaye, N C, Nordgren, A, Pasquier, L, Petit, F, Pfundt, R, Plessis, G, Rajcan-Separovic, E, Ramelli, G P, Rauch, A, Ravazzolo, R, Reis, A, Renieri, A, Richart, C, Ried, J S, Rieubland, C, Roberts, W, Roetzer, K M, Rooryck, C, Rossi, M, Saemundsen, E, Satre, V, Schurmann, C, Sigurdsson, E, Stavropoulos, D J, Stefansson, H, Tengström, C, Thorsteinsdóttir, U, Tinahones, F J, Touraine, R, Vallée, L, van Binsbergen, E, Van der Aa, N, Vincent-Delorme, C, Visvikis-Siest, S, Vollenweider, P, Völzke, H, Vulto-van Silfhout, A T, Waeber, G, Wallgren-Pettersson, C, Witwicki, R M, Zwolinksi, S, Andrieux, J, Estivill, X, Gusella, J F, Gustafsson, O, Metspalu, A, Scherer, S W, Stefansson, K, Blakemore, A I F, Beckmann, J S & Froguel, P 2011, ' Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus ', Nature, vol. 478, no. 7367, pp. 97-102 . https://doi.org/10.1038/nature10406
Nature
Nature, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Nature, Nature Publishing Group, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Nature, 478(7367), 97-102. Nature Publishing Group
Nature; Vol 478
Nature, 478(7367), 97-U111. Nature Publishing Group
Nature, Vol. 478, No 7367 (2011) pp. 97-102
Nature, vol. 478, no. 7367, pp. 97-102
Nature, 478, 97-102

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) ≤ 18.5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e62f829b873e55fff944148463fb1d3
https://hdl.handle.net/11588/916957

Identification of human D lactate dehydrogenase deficiency.

Autor: Monroe GR; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Tessadori F; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584, CT, The Netherlands., Duran KJ; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Savelberg SMC; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Alfen JC; Bartiméus, Institute for the Visually Impaired, Doorn, 3940, AB, The Netherlands., Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van der Crabben SN; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, 3584, EA, The Netherlands., Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Fuchs SA; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, 3584, EA, The Netherlands., Gerrits J; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Roosmalen MJ; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Aalderen M; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Koot BG; Department of Pediatric Gastroenterology and Nutrition, Academic Medical Center, Amsterdam, 1105, AZ, The Netherlands., Oostendorp M; Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Laboratory of Clinical Chemistry, Deventer Hospital, Deventer, 7416, SE, The Netherlands., Duran M; Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, 1105, AZ, The Netherlands., Visser G; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, 3584, EA, The Netherlands., de Koning TJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, 9713, GZ, The Netherlands., Calì F; Oasi Research Institute-IRCCS, Troina, 94018, Italy., Bosco P; Oasi Research Institute-IRCCS, Troina, 94018, Italy., Geleijns K; Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., de Sain-van der Velden MGM; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Knoers NV; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Bakkers J; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584, CT, The Netherlands.; Department of Medical Physiology, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Verhoeven-Duif NM; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Haaften G; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands. G.vanHaaften@umcutrecht.nl.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands. G.vanHaaften@umcutrecht.nl., Jans JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.

Publikováno v: Nature communications [Nat Commun] 2019 Apr 01; Vol. 10 (1), pp. 1477. Date of Electronic Publication: 2019 Apr 01.