Suchergebnisse - Marc Nicolino

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  1. 1
    Wolcott-Rallison syndrome

    Wolcott-Rallison syndrome von Cécile Julier, Marc Nicolino

    Veröffentlicht 2010
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  2. 2
    A Novel Hypomorphic <i>PDX1</i> Mutation Responsible for Permanent Neonatal Diabetes With Subclinical Exocrine Deficiency

    A Novel Hypomorphic <i>PDX1</i> Mutation Responsible for Permanent Neonatal Diabetes With Subclinical Exocrine Deficiency von Marc Nicolino, Kathryn Claiborn, Valérie Senée, Anne Boland, Doris A. Stoffers, Cécile Julier

    Veröffentlicht 2009
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  3. 3
    Incremental Value of Continuous Glucose Monitoring When Starting Pump Therapy in Patients With Poorly Controlled Type 1 Diabetes

    Incremental Value of Continuous Glucose Monitoring When Starting Pump Therapy in Patients With Poorly Controlled Type 1 Diabetes von D. Raccah, V. Sulmont, Yves Reznik, Bruno Guerci, Éric Renard, H. Hanaire, N. Jeandidier, Marc Nicolino

    Veröffentlicht 2009
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  4. 4
    miRNA-375 a Sensor of Glucotoxicity Is Altered in the Serum of Children with Newly Diagnosed Type 1 Diabetes

    miRNA-375 a Sensor of Glucotoxicity Is Altered in the Serum of Children with Newly Diagnosed Type 1 Diabetes von Lucien Marchand, Audrey Jalabert, Emmanuelle Meugnier, K. Van Den Hende, Nicole Fabien, Marc Nicolino, Anne‐Marie Madec, Charles Thivolet, Sophie Rome

    Veröffentlicht 2016
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  5. 5
    Self-Esteem and Social Adjustment in Young Women with Turner Syndrome—Influence of Pubertal Management and Sexuality: Population-Based Cohort Study

    Self-Esteem and Social Adjustment in Young Women with Turner Syndrome—Influence of Pubertal Management and Sexuality: Population-Based Cohort Study von Jean‐Claude Carel, Caroline Elie, Emmanuel Écosse, Maïthé Tauber, Juliane Léger, Sylvie Cabrol, Marc Nicolino, Raja Brauner, Jean‐Louis Chaussain, Joël Coste

    Veröffentlicht 2006
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  6. 6
    Pseudohypoaldosteronisms, report on a 10-patient series

    Pseudohypoaldosteronisms, report on a 10-patient series von Alexandre Bélot, Bruno Ranchin, C. Fichtner, Lucie Pujo, Bernard C. Rossier, A. Liutkus, Clément Morlat, Marc Nicolino, Maria‐Christina Zennaro, Pierre Cochat

    Veröffentlicht 2008
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  7. 7
    Quality of Life Determinants in Young Women with Turner’s Syndrome after Growth Hormone Treatment: Results of the StaTur Population-Based Cohort Study

    Quality of Life Determinants in Young Women with Turner’s Syndrome after Growth Hormone Treatment: Results of the StaTur Population-Based Cohort Study von Jean‐Claude Carel, Emmanuel Écosse, I Bastié-Sigeac, Sylvie Cabrol, M. Tauber, Juliane Léger, Marc Nicolino, Raja Brauner, Jean‐Louis Chaussain, Joël Coste

    Veröffentlicht 2005
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  8. 8
    Triple-A syndrome: a wide spectrum of adrenal dysfunction

    Triple-A syndrome: a wide spectrum of adrenal dysfunction von Florence Roucher‐Boulez, Aude Brac de la Perrière, Aude Jacquez, Delphine Chau, Laurence Guignat, Christophe Vial, Yves Morel, Marc Nicolino, Gérald Raverot, Michel Pugeat

    Veröffentlicht 2017
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  9. 9
    Macroprolactinomas in Children and Adolescents: Factors Associated With the Response to Treatment in 77 Patients

    Macroprolactinomas in Children and Adolescents: Factors Associated With the Response to Treatment in 77 Patients von Sylvie Salenave, Déborah Ancelle, Thibaut Bahougne, Gérald Raverot, Peter Kamenický, Jérôme Bouligand, Anne Guiochon‐Mantel, Agnès Linglart, Pierre‐François Souchon, Marc Nicolino, Jacques Young, Françoise Borson‐Chazot, Brigitte Delemer, Philippe Chanson

    Veröffentlicht 2014
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  10. 10
    The protein kinase PERK/EIF2AK3 regulates proinsulin processing not via protein synthesis but by controlling endoplasmic reticulum chaperones

    The protein kinase PERK/EIF2AK3 regulates proinsulin processing not via protein synthesis but by controlling endoplasmic reticulum chaperones von Carrie R. Sowers, Rong Wang, Rebecca A. Bourne, Barbara C. McGrath, Jingjie Hu, Sarah C. Bevilacqua, James C. Paton, Adrienne W. Paton, Sophie Collardeau‐Frachon, Marc Nicolino, Douglas R. Cavener

    Veröffentlicht 2018
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  11. 11
    Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease

    Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease von Priya S. Kishnani, Marc Nicolino, Thomas Voït, Richard C. Rogers, Anne Chun-Hui Tsai, John Waterson, Gail E. Herman, Andreas Amalfitano, Beth L. Thurberg, Susan Richards, Mark A. Davison, Deyanira Corzo, Yuting Chen

    Veröffentlicht 2006
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  12. 12
    Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.

    Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. von Marian A. Kroos, Magna Van der Kraan, O. P. van Diggelen, Wim J. Kleijer, Arnold Reuser, M. J. van den Boogaard, M.G.E.M. Ausems, Hans Kristian Ploos van Amstel, Livia Poënaru, Marc Nicolino

    Veröffentlicht 1995
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    Carta
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  13. 13
    Elevated ratio of acylated to unacylated ghrelin in children and young adults with Prader–Willi syndrome

    Elevated ratio of acylated to unacylated ghrelin in children and young adults with Prader–Willi syndrome von Renske Kuppens, Gwénaëlle Diene, Nienke Bakker, Catherine Molinas, Sandy Faye, Marc Nicolino, Delphine Bernoux, Patric J. D. Delhanty, A. J. van der Lely, Soraya Allas, M Julien, Thomas Delale, Maïthé Tauber, Anita C. S. Hokken‐Koelega

    Veröffentlicht 2015
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  14. 14
    Seven Novel Deleterious LEPR Mutations Found in Early-Onset Obesity: a ΔExon6–8 Shared by Subjects From Reunion Island, France, Suggests a Founder Effect

    Seven Novel Deleterious LEPR Mutations Found in Early-Onset Obesity: a ΔExon6–8 Shared by Subjects From Reunion Island, France, Suggests a Founder Effect von Hélène Huvenne, Johanne Le Beyec, Dominique Pépin, Rohia Alili, P. Pigeon Kherchiche, E. Jeannic, M.-L. Frelut, Jean‐Marc Lacorte, Marc Nicolino, Amélie Viard, Martine Laville, Séverine Ledoux, Patrick Tounian, Christine Poitou, Béatrice Dubern, Karine Clément

    Veröffentlicht 2015
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  15. 15
    A Missense Mutation in <i>PPP1R15B</i> Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

    A Missense Mutation in <i>PPP1R15B</i> Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly von Baroj Abdulkarim, Marc Nicolino, Mariana Igoillo‐Esteve, Mathilde Daures, Sophie Romero, Anne Philippi, Valérie Senée, Miguel Lopes, Daniel A. Cunha, Heather P. Harding, Céline Derbois, Nathalie Bendelac, Andrew T. Hattersley, Décio L. Eizirik, David Ron, Miriam Cnop, Cécile Julier

    Veröffentlicht 2015
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  16. 16
    Loss of BRCC3 Deubiquitinating Enzyme Leads to Abnormal Angiogenesis and Is Associated with Syndromic Moyamoya

    Loss of BRCC3 Deubiquitinating Enzyme Leads to Abnormal Angiogenesis and Is Associated with Syndromic Moyamoya von S. Miskinyte, Matthew G. Butler, Dominique Hervé, Catherine Sarret, Marc Nicolino, Jacob D. Petralia, Françoise Bergametti, Minh Arnould, Van N. Pham, Aniket V. Gore, Konstantinos Spengos, Steven Gazal, France Woimant, Gary K. Steinberg, Brant M. Weinstein, Elisabeth Tournier‐Lasserve

    Veröffentlicht 2011
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  17. 17
    Growth patterns of patients with Noonan syndrome: correlation with age and genotype

    Growth patterns of patients with Noonan syndrome: correlation with age and genotype von Catie Cessans, Virginie Ehlinger, Catherine Arnaud, Armelle Yart, Yline Capri, Pascal Barat, B. Cammas, Didier Lacombe, R. Coutant, Albert David, Sabine Baron, Jacques Weill, Bruno Leheup, Marc Nicolino, Jean‐Pierre Salles, Alain Verloès, Maïthé Tauber, Hélène Cavé, Thomas Édouard

    Veröffentlicht 2016
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  18. 18
    Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1β (<i>TCF2</i>) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5

    Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1β (<i>TCF2</i>) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5 von Christine Bellanné‐Chantelot, Séverine Clauin, Dominique Chauveau, Philippe Collin, Michèle Daumont, Claire Douillard, Danièle Dubois‐Laforgue, L. Dusselier, Jean‐François Gautier, Michel Jadoul, M. Laloi‐Michelin, L. Jacquesson, Étienne Larger, Jacques Louis, Marc Nicolino, Jean-François Subra, Jean-Marie Wilhem, Jacques Young, Gilberto Velho, José Timsit

    Veröffentlicht 2005
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  19. 19
    Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

    Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up? von Laurence Dumeige, Livie Chatelais, Claire Bouvattier, Marc de Kerdanet, Capucine Hyon, Blandine Esteva, Dinane Samara‐Boustani, Delphine Zénaty, Marc Nicolino, S. Baron, Chantal Metz-Blond, Catherine Naud-Saudreau, Clémentine Dupuis, Juliane Léger, Jean‐Pierre Siffroi, Bruno Donadille, Sophie Christin‐Maître, Jean‐Claude Carel, R. Coutant, Lætitia Martinerie

    Veröffentlicht 2018
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  20. 20
    Autoimmune disorders and quadrivalent human papillomavirus vaccination of young female subjects

    Autoimmune disorders and quadrivalent human papillomavirus vaccination of young female subjects von Lamiae Grimaldi‐Bensouda, Didier Guillemot, Bertrand Godeau, Jacques Bénichou, Christine Lebrun‐Frénay, Caroline Papeix, Pierre Labauge, Patrick Berquin, A. Penfornis, P.‐Y. Benhamou, Marc Nicolino, Albane Simon, Jean‐François Viallard, N. Costedoat‐Chalumeau, Marie-France Courcoux, Corinne Pondarré, Pascal Hilliquin, Emmanuel Chatelus, Violaine Foltz, Séverine Guillaume, M Rossignol, Lucien Abenhaim

    Veröffentlicht 2013
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