Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Gheldof N"'
Autor:
Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM, 2p15 Consortium, 16p112 Consortium, Merla G, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A
Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::1f8f881a6e24dc628fdb56eec689dee7
http://hdl.handle.net/11588/873951
http://hdl.handle.net/11588/873951
Autor:
Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio MN, Männik, K, van der Werf, I, Giannuzzi, G, Zazhytska, M, Gheldof, N, Migliavacca, E, Alfaiz, Aa, Roberts Caldeira, I, Hippolyte, L, Maillard, Am, Ferrarini, A, Butschi, Fn, Conrad, B, Addor, Mc, Belfiore, M, Roetzer, K, Dijck, Av, Blaumeiser, B, Kooy, F, Roelens, F, Dheedene, A, Chiaie, Bd, Menten, B, Oostra, A, Caberg, Jh, Carter, M, Kellam, B, Stavropoulos, Dj, Marshall, C, Scherer, Sw, Weksberg, R, Cytrynbaum, C, Bassett, A, Lowther, C, Gillis, J, Mackay, S, Bache, I, Ousager, Lb, Smerdel, Mp, Graakjaer, J, Kjaergaard, S, Metspalu, A, Mathieu, M, Bonneau, D, Guichet, A, Parent, P, Férec, C, Gerard, M, Plessis, G, Lespinasse, J, Masurel, A, Marle, N, Faivre, L, Callier, P, Layet, V, Meur, Nl, Le Goff, C, Duban Bedu, B, Sukno, S, Boute, O, Andrieux, J, Blanchet, P, Geneviève, D, Puechberty, J, Schneider, A, Leheup, B, Jonveaux, P, Mercier, S, David, A, Le Caignec, C, de Pontual, L, Pipiras, E, Jacquette, A, Keren, B, Gilbert Dussardier, B, Bilan, F, Goldenberg, A, Chambon, P, Toutain, A, Till, M, Sanlaville, D, Leube, B, Royer Pokora, B, Grabe, Hj, Schmidt, Co, Schurmann, C, Homuth, G, Thorleifsson, G, Thorsteinsdottir, U, Bernardini, L, Novelli, A, Micale, L, Merla, G, Zollino, M, Mari, Francesca, Rizzo, Cl, Renieri, Alessandra, Silengo, M, Vulto van Silfhout AT, Schouten, M, Pfundt, R, de Leeuw, N, Vansenne, F, Maas, Sm, Barge Schaapveld DQ, Knegt, Ac, Stadheim, B, Rodningen, O, Houge, G, Price, S, Hawkes, L, Campbell, C, Kini, U, Vogt, J, Walters, R, Blakemore, A, Gusella, Jf, Shen, Y, Scott, D, Bacino, Ca, Tsuchiya, K, Ladda, R, Sell, S, Asamoah, A, Hamati, Ai, Rosenfeld, Ja, Shaffer, Lg, Mitchell, E, Hodge, Jc, Beckmann, Js, Jacquemont, S, Reymond, A, Ewans, Lj, Mowat, D, Walker, J, Amor, Dj, Esch, Hv, Leroy, P, Bamforth, Js, Babu, D, Isidor, B, Didonato, N, Hackmann, K, Passeggeri, M, Haeringen, Av, Smith, R, Ellingwood, S, Farber, Dm, Puri, V, Zadeh, N, Weaver, Dd, Miller, M, Wilks, T, Jorgez, Cj, Lafayette, D
Publikováno v:
Molecular Psychiatry
Molecular Psychiatry, 22, 6, pp. 836-849
Molecular Psychiatry, Vol. 22, No 6 (2017) pp. 836-849
Molecular psychiatry
Molecular Psychiatry, vol. 22, no. 6, pp. 836-849
Molecular psychiatry, 22(6), 836-849. Nature Publishing Group
Molecular Psychiatry, 22, 836-849
Ousager, L B & 2p15 Consortium 2017, ' Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes ', Molecular Psychiatry, vol. 22, no. 6, pp. 836-849 . https://doi.org/10.1038/mp.2016.84
Molecular Psychiatry, 22, 6, pp. 836-849
Molecular Psychiatry, Vol. 22, No 6 (2017) pp. 836-849
Molecular psychiatry
Molecular Psychiatry, vol. 22, no. 6, pp. 836-849
Molecular psychiatry, 22(6), 836-849. Nature Publishing Group
Molecular Psychiatry, 22, 836-849
Ousager, L B & 2p15 Consortium 2017, ' Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes ', Molecular Psychiatry, vol. 22, no. 6, pp. 836-849 . https://doi.org/10.1038/mp.2016.84
Contains fulltext : 174530.pdf (Publisher’s version ) (Open Access) Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 2
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Publikováno v:
Journal of Food Science (Wiley-Blackwell); Mar2004, Vol. 69 Issue 2, pfct96-fct101, 6p
Autor:
Gheldof, N, Dekker, J
Publikováno v:
Current Genomics; February 01, 2004, Vol. 5 Issue: 2 p157-168, 12p
Autor:
Loviglio, M N, Leleu, M, Männik, K, Passeggeri, M, Giannuzzi, G, Van Der Werf, I, Waszak, S M, Zazhytska, M, Roberts-Caldeira, I, Gheldof, N, Migliavacca, E, Alfaiz, A A, Hippolyte, L, Maillard, A M, Loviglio, Maria Nicla, Männik, Katrin, Van Der Werf, Ilse, Giannuzzi, Giuliana, Zazhytska, Marianna, Gheldof, Nele, Migliavacca, Eugenia, Alfaiz, Ali A, Roberts-Caldeira, Inês, Hippolyte, Loyse, Maillard, Anne M, Ferrarini, Alessandra, Butschi, Florence Niel, Conrad, Bernard, Addor, Marie-Claude, Belfiore, Marco, Roetzer, Katharina, Dijck, Anke Van, Blaumeiser, Bettina, Kooy, Frank, Roelens, Filip, Dheedene, Annelies, Chiaie, Barbara Delle, Menten, Björn, Oostra, Ann, Caberg, Jean-Hubert, Carter, Melissa, Kellam, Barbara, Stavropoulos, Dimitri J, Marshall, Christian, Scherer, Stephen W, Weksberg, Rosanna, Cytrynbaum, Cheryl, Bassett, Anne, Lowther, Chelsea, Gillis, Jane, Mackay, Sara, Bache, Iben, Ousager, Lilian B, Smerdel, Maja Patricia, Graakjaer, Jesper, Kjaergaard, Susanne, Metspalu, Andres, Mathieu, Michele, Bonneau, Dominique, Guichet, Agnes, Parent, Philippe, Férec, Claude, Gerard, Marion, Plessis, Ghislaine, Lespinasse, James, Masurel, Alice, Marle, Nathalie, Faivre, Laurence, Callier, Patrick, Layet, Valerie, Meur, Nathalie Le, Le Goff, Céline, Duban-Bedu, Bénédicte, Sukno, Sylvie, Boute, Odile, Andrieux, Joris, Blanchet, Patricia, Geneviève, David, Puechberty, Jacques, Schneider, Anouck, Leheup, Bruno, Jonveaux, Philippe, Mercier, Sandra, David, Albert, Le Caignec, Cédric, De Pontual, Loic, Pipiras, Eva, Jacquette, Aurelia, Keren, Boris, Gilbert-Dussardier, Brigitte, Bilan, Frederic, Goldenberg, Alice, Chambon, Pascal, Toutain, Annick, Till, Marianne, Sanlaville, Damien, Leube, Barbara, Royer-Pokora, Brigitte, Grabe, Hans Jörgen, Schmidt, Carsten Oliver, Schurmann, Claudia, Homuth, Georg, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Bernardini, Laura, Novelli, Antonio, Micale, Lucia, Merla, Giuseppe, Zollino, Marcella, Mari, Francesca, Rizzo, Caterina Lo, Renieri, Alessandra, Silengo, Margherita, Vulto-Van Silfhout, Anneke T, Schouten, Meyke, Pfundt, Rolph, De Leeuw, Nicole, Vansenne, Fleur, Maas, Saskia M, Barge-Schaapveld, Daniela Qcm, Knegt, Alida C, Stadheim, Barbro, Rodningen, Olaug, Houge, Gunnar, Price, Sue, Hawkes, Lara, Campbell, Carolyn, Kini, Usha, Vogt, Julie, Walters, Robin, Blakemore, Alexandra, Gusella, James F, Shen, Yiping, Scott, Daryl, Bacino, Carlos A, Tsuchiya, Karen, Ladda, Roger, Sell, Susan, Asamoah, Alexander, Hamati, Aline I, Rosenfeld, Jill A, Shaffer, Lisa G, Mitchell, Elyse, Hodge, Jennelle C, Beckmann, Jacques S, Jacquemont, Sébastien, Reymond, Alexandre, Ewans, Lisa J, Mowat, David, Walker, Jan, Amor, David J, Esch, Hilde Van, Leroy, Patricia, Bamforth, John-Steven, Babu, Deepti, Isidor, Bertrand, Didonato, Nataliya, Hackmann, Karl, Passeggeri, Marzia, Haeringen, Arie Van, Smith, Rosemarie, Ellingwood, Sara, Farber, Darren M, Puri, Vinay, Zadeh, Neda, Weaver, David D, Miller, Mandy, Wilks, Timothy, Jorgez, Carolina J, Lafayette, Deedee, Van Dijck, A, Kooy, R F, Sanlaville, D, Rosenfeld, J A, Shaffer, L G, Andrieux, J, Marshall, C, Scherer, S W, Shen, Y, Gusella, J F, Thorsteinsdottir, U, Thorleifsson, G, Dermitzakis, E T, Deplancke, B, Beckmann, J S, Rougemont, J, Jacquemont, S, Reymond, A, 2p15 Consortium, 16p11 2 Consortium
Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______185::922660d29f59b784e198371d231653c3
https://infoscience.epfl.ch/record/227170
https://infoscience.epfl.ch/record/227170
Autor:
Cominetti O; Nestlé Institute of Food Safety & Analytical Sciences, Nestlé Research, Lausanne, Switzerland., Núñez Galindo A; Nestlé Institute of Food Safety & Analytical Sciences, Nestlé Research, Lausanne, Switzerland., Corthésy J; Nestlé Institute of Food Safety & Analytical Sciences, Nestlé Research, Lausanne, Switzerland., Carayol J; Nestlé Institute of Health Sciences, Nestlé Research, Lausanne, Switzerland., Germain N; Division of Endocrinology, Diabetes, Metabolism and Eating Disorders, CHU St-Etienne, France., Galusca B; Division of Endocrinology, Diabetes, Metabolism and Eating Disorders, CHU St-Etienne, France., Estour B; Division of Endocrinology, Diabetes, Metabolism and Eating Disorders, CHU St-Etienne, France., Hager J; Nestlé Institute of Health Sciences, Nestlé Research, Lausanne, Switzerland., Gheldof N; Nestlé Institute of Health Sciences, Nestlé Research, Lausanne, Switzerland., Dayon L; Nestlé Institute of Food Safety & Analytical Sciences, Nestlé Research, Lausanne, Switzerland.; Institut des Sciences et Ingénierie Chimiques, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.
Publikováno v:
Proteomics. Clinical applications [Proteomics Clin Appl] 2022 Sep; Vol. 16 (5), pp. e2100114. Date of Electronic Publication: 2022 May 26.
Autor:
Gheldof N; Nestlé Research, Institute of Health Sciences, CH-1000 Lausanne, Switzerland., Francey C; Nestlé Research, Institute of Health Sciences, CH-1000 Lausanne, Switzerland., Rytz A; Nestlé Research, Clinical Research Unit, CH-1000 Lausanne, Switzerland., Egli L; Nestlé Research, Institute of Health Sciences, CH-1000 Lausanne, Switzerland., Delodder F; Nestlé Research, Clinical Research Unit, CH-1000 Lausanne, Switzerland., Bovetto L; Nestlé Research, Institute of Material Science, CH-1000 Lausanne, Switzerland., Piccardi N; Nestlé Research, Clinical Research Unit, CH-1000 Lausanne, Switzerland., Darimont C; Nestlé Research, Institute of Health Sciences, CH-1000 Lausanne, Switzerland.
Publikováno v:
Nutrients [Nutrients] 2022 Jun 28; Vol. 14 (13). Date of Electronic Publication: 2022 Jun 28.
Autor:
Ling Y; Division of Endocrinology, CHU Saint-Etienne, Saint-Etienne, France.; Eating Disorders, Addictions & Extreme Bodyweight Research Group, Jean Monnet University, Saint-Etienne, France., Galusca B; Division of Endocrinology, CHU Saint-Etienne, Saint-Etienne, France.; Eating Disorders, Addictions & Extreme Bodyweight Research Group, Jean Monnet University, Saint-Etienne, France., Martin FP; Metabolic Health, Nestlé Research, EPFL Innovation Park, Lausanne, Switzerland., Bartova S; Metabolic Health, Nestlé Research, EPFL Innovation Park, Lausanne, Switzerland., Carayol J; Metabolic Health, Nestlé Research, EPFL Innovation Park, Lausanne, Switzerland., Moco S; Metabolic Health, Nestlé Research, EPFL Innovation Park, Lausanne, Switzerland., Epelbaum J; Psychiatry and Neurosciences Center, Paris Descartes University, INSERM UMR 894, Paris, France., Grouselle D; Psychiatry and Neurosciences Center, Paris Descartes University, INSERM UMR 894, Paris, France., Boirie Y; Human Nutrition Unit, INRA, Research Center, UMR 1019, Clermont-Ferrand, France., Montaurier C; Human Nutrition Unit, INRA, Research Center, UMR 1019, Clermont-Ferrand, France., Cuenco J; Division of Diabetes, Endocrinology and Metabolism, Imperial College, London, UK., Minnion JS; Division of Diabetes, Endocrinology and Metabolism, Imperial College, London, UK., Thomas T; Rheumatology Department, CHU Saint-Etienne, Saint-Etienne, France., Mure S; Division of Endocrinology, CHU Saint-Etienne, Saint-Etienne, France., Hager J; Metabolic Health, Nestlé Research, EPFL Innovation Park, Lausanne, Switzerland., Estour B; Division of Endocrinology, CHU Saint-Etienne, Saint-Etienne, France.; Eating Disorders, Addictions & Extreme Bodyweight Research Group, Jean Monnet University, Saint-Etienne, France., Gheldof N; Metabolic Health, Nestlé Research, EPFL Innovation Park, Lausanne, Switzerland., Germain N; Division of Endocrinology, CHU Saint-Etienne, Saint-Etienne, France.; Eating Disorders, Addictions & Extreme Bodyweight Research Group, Jean Monnet University, Saint-Etienne, France.
Publikováno v:
Journal of cachexia, sarcopenia and muscle [J Cachexia Sarcopenia Muscle] 2020 Oct; Vol. 11 (5), pp. 1187-1199. Date of Electronic Publication: 2020 Apr 10.
Autor:
Orthofer M; IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna 1030, Austria., Valsesia A; Metabolic Phenotyping, Nestlé Research, EPFL Innovation Park, Lausanne 1015, Switzerland., Mägi R; Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu 51010, Estonia., Wang QP; School of Pharmaceutical Sciences (Shenzhen), Sun Yat-sen University, Guangzhou 510275, China., Kaczanowska J; IMP, Institute of Molecular Pathology, Vienna 1030, Austria., Kozieradzki I; IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna 1030, Austria., Leopoldi A; IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna 1030, Austria., Cikes D; IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna 1030, Austria., Zopf LM; Vienna BioCenter Core Facilities GmbH (VBCF), Vienna 1030, Austria., Tretiakov EO; Department of Molecular Neurosciences, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, Vienna 1090, Austria., Demetz E; Department of Internal Medicine II, Innsbruck Medical University, Innsbruck 6020, Austria., Hilbe R; Department of Internal Medicine II, Innsbruck Medical University, Innsbruck 6020, Austria., Boehm A; Department of Internal Medicine II, Innsbruck Medical University, Innsbruck 6020, Austria., Ticevic M; IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna 1030, Austria., Nõukas M; Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu 51010, Estonia., Jais A; Department of Laboratory Medicine, Medical University of Vienna, Vienna 1090, Austria., Spirk K; Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, Vienna 1090, Austria., Clark T; Dr. John and Anne Chong Lab for Functional Genomics, Charles Perkins Centre, Centenary Institute, and School of Life and Environmental Sciences, University of Sydney, Camperdown, NSW 2006, Australia., Amann S; Department of Laboratory Medicine, Medical University of Vienna, Vienna 1090, Austria., Lepamets M; Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu 51010, Estonia., Neumayr C; IMP, Institute of Molecular Pathology, Vienna 1030, Austria., Arnold C; IMP, Institute of Molecular Pathology, Vienna 1030, Austria., Dou Z; Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada., Kuhn V; Department of Internal Medicine II, Innsbruck Medical University, Innsbruck 6020, Austria., Novatchkova M; IMP, Institute of Molecular Pathology, Vienna 1030, Austria., Cronin SJF; IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna 1030, Austria., Tietge UJF; Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institute, 141 52 Huddinge, Sweden; Clinical Chemistry, Karolinska University Laboratory, Karolinska University Hospital, 141 86 Stockholm, Sweden., Müller S; Institute of Animal Breeding and Genetics, University of Veterinary Medicine Vienna, Veterinärplatz 1, 1210 Vienna, Austria., Pospisilik JA; Center for Epigenetics, Van Andel Research Institute, Grand Rapids, MI 49503, USA., Nagy V; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, 1090 Vienna, Austria., Hui CC; Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada., Lazovic J; Vienna BioCenter Core Facilities GmbH (VBCF), Vienna 1030, Austria., Esterbauer H; Department of Laboratory Medicine, Medical University of Vienna, Vienna 1090, Austria., Hagelkruys A; IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna 1030, Austria., Tancevski I; Department of Internal Medicine II, Innsbruck Medical University, Innsbruck 6020, Austria., Kiefer FW; Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, Vienna 1090, Austria., Harkany T; Department of Molecular Neurosciences, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, Vienna 1090, Austria; Section for Chemical Neurotransmission, Department of Neuroscience, Biomedicum 7D, Solnavägen 9, 17165 Solna, Sweden., Haubensak W; IMP, Institute of Molecular Pathology, Vienna 1030, Austria., Neely GG; Dr. John and Anne Chong Lab for Functional Genomics, Charles Perkins Centre, Centenary Institute, and School of Life and Environmental Sciences, University of Sydney, Camperdown, NSW 2006, Australia., Metspalu A; Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu 51010, Estonia., Hager J; Metabolic Phenotyping, Nestlé Research, EPFL Innovation Park, Lausanne 1015, Switzerland. Electronic address: jorg.hager@rd.nestle.com., Gheldof N; Metabolic Phenotyping, Nestlé Research, EPFL Innovation Park, Lausanne 1015, Switzerland. Electronic address: nele.gheldof@rd.nestle.com., Penninger JM; IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna 1030, Austria; Department of Medical Genetics, Life Science Institute, University of British Columbia, Vancouver, BC V6T 1Z3, Canada. Electronic address: josef.penninger@ubc.ca.
Publikováno v:
Cell [Cell] 2020 Jun 11; Vol. 181 (6), pp. 1246-1262.e22. Date of Electronic Publication: 2020 May 21.