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Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome
Bieth, Eric, Eddiry, Sanaa, Gaston, Véronique, Lorenzini, Françoise, Buffet, Alexandre, Conte Auriol, Françoise, Molinas, Catherine, Cailley, Dorothée, Rooryck, Caroline, Arveiler, Benoit, Cavaillé, Jérome, Salles, Jean Pierre, Tauber, Maïthé
Published in European journal of human genetics : EJHG (01.02.2015)
Published in European journal of human genetics : EJHG (01.02.2015)
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Proteome profiling identifies circulating biomarkers associated with hepatic steatosis in subjects with Prader-Willi syndrome
Pascut, Devis, Giraudi, Pablo J., Banfi, Cristina, Ghilardi, Stefania, Tiribelli, Claudio, Bondesan, Adele, Caroli, Diana, Minocci, Alessandro, Grugni, Graziano, Sartorio, Alessandro
Published in Frontiers in endocrinology (Lausanne) (15.11.2023)
Published in Frontiers in endocrinology (Lausanne) (15.11.2023)
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The Italian registry for patients with Prader–Willi syndrome
Salvatore, Marco, Torreri, Paola, Grugni, Graziano, Rocchetti, Adele, Maghnie, Mohamad, Patti, Giuseppa, Crinò, Antonino, Elia, Maurizio, Greco, Donatella, Romano, Corrado, Franzese, Adriana, Mozzillo, Enza, Colao, Annamaria, Pugliese, Gabriella, Pagotto, Uberto, Lo Preiato, Valentina, Scarano, Emanuela, Schiavariello, Concetta, Tornese, Gianluca, Fintini, Danilo, Bocchini, Sarah, Osimani, Sara, De Sanctis, Luisa, Sacco, Michele, Rutigliano, Irene, Delvecchio, Maurizio, Faienza, Maria Felicia, Wasniewska, Malgorzata, Corica, Domenico, Stagi, Stefano, Guazzarotti, Laura, Maffei, Pietro, Dassie, Francesca, Taruscio, Domenica
Published in Orphanet journal of rare diseases (15.02.2023)
Published in Orphanet journal of rare diseases (15.02.2023)
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Inter- and intra-observer reliability of the “Assessment of Motor Repertoire- 3 to 5 Months” based on video recordings of infants with Prader-Willi syndrome
Wang, Jun, Shen, Xiushu, Yang, Hong, Shi, Wei, Zhu, Xiaoyun, Gao, Herong, Yin, Huanhuan, Meng, Fanzhe, Wu, Yun
Published in BMC pediatrics (22.03.2022)
Published in BMC pediatrics (22.03.2022)
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Disorders of glucose metabolism in Prader–Willi syndrome: Results of a multicenter Italian cohort study
Fintini, D., Grugni, G., Bocchini, S., Brufani, C., Di Candia, S., Corrias, A., Delvecchio, M., Salvatoni, A., Ragusa, L., Greggio, N., Franzese, A., Scarano, E., Trifirò, G., Mazzanti, L., Chiumello, G., Cappa, M., Crinò, A.
Published in Nutrition, metabolism, and cardiovascular diseases (01.09.2016)
Published in Nutrition, metabolism, and cardiovascular diseases (01.09.2016)
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Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review
van Abswoude, Denise H., Pellikaan, Karlijn, Nguyen, Naomi, Rosenberg, Anna G. W., Davidse, Kirsten, Hoekstra, Franciska M. E., Rood, Ilse M., Poitou, Christine, Grugni, Graziano, Høybye, Charlotte, Markovic, Tania P., Caixàs, Assumpta, Crinò, Antonino, van den Berg, Sjoerd A. A., van der Lely, Aart J., de Graaff, Laura C. G.
Published in Frontiers in endocrinology (Lausanne) (2023)
Published in Frontiers in endocrinology (Lausanne) (2023)
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Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes
Kim, Soo-Jeong, Miller, Jennifer L, Kuipers, Paul J, German, Jennifer Ruth, Beaudet, Arthur L, Sahoo, Trilochan, Driscoll, Daniel J
Published in European journal of human genetics : EJHG (01.03.2012)
Published in European journal of human genetics : EJHG (01.03.2012)
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Early Diagnosis in Prader–Willi Syndrome Reduces Obesity and Associated Co-Morbidities
Kimonis, Virginia E., Tamura, Roy, Gold, June-Anne, Patel, Nidhi, Surampalli, Abhilasha, Manazir, Javeria, Miller, Jennifer L., Roof, Elizabeth, Dykens, Elisabeth, Butler, Merlin G., Driscoll, Daniel J.
Published in Genes (06.11.2019)
Published in Genes (06.11.2019)
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Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader–Willi Syndrome and Angelman Syndrome
Kim, Boram, Park, Yongsook, Cho, Sung Im, Kim, Man Jin, Chae, Jong-Hee, Kim, Ji Yeon, Seong, Moon-Woo, Park, Sung Sup
Published in Annals of laboratory medicine (01.01.2022)
Published in Annals of laboratory medicine (01.01.2022)
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Thyroid Function from Birth to Adolescence in Prader-Willi Syndrome
Sharkia, Mohamad, Michaud, Stéphanie, Berthier, Marie-Thérèse, Giguère, Yves, Stewart, Laura, Deladoëy, Johnny, Deal, Cheri, Van Vliet, Guy, Chanoine, Jean-Pierre
Published in The Journal of pediatrics (01.09.2013)
Published in The Journal of pediatrics (01.09.2013)
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PRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? - A REVIEW
Passone, Caroline Buff Gouveia, Pasqualucci, Paula Lage, Franco, Ruth Rocha, Ito, Simone Sakura, Mattar, Larissa Baldini Farjalla, Koiffmann, Celia Priszkulnik, Soster, Leticia Azevedo, Carneiro, Jorge David Aivazoglou, Cabral Menezes-Filho, Hamilton, Damiani, Durval
Published in Revista paulista de pediatria (01.07.2018)
Published in Revista paulista de pediatria (01.07.2018)
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Subclinical dysphagia in persons with Prader–Willi syndrome
Gross, Roxann Diez, Gisser, Ronit, Cherpes, Gregory, Hartman, Katie, Maheshwary, Rishi
Published in American journal of medical genetics. Part A (01.02.2017)
Published in American journal of medical genetics. Part A (01.02.2017)
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Increased plasma chemokine levels in children with Prader-Willi syndrome
Butler, Merlin G., Hossain, Waheeda, Sulsona, Carlos, Driscoll, Daniel J., Manzardo, Ann M.
Published in American journal of medical genetics. Part A (01.03.2015)
Published in American journal of medical genetics. Part A (01.03.2015)
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Deconvolution-based assessment of pituitary GH secretion stimulated with GHRH+arginine in Prader-Willi adults and obese controls
Grugni, Graziano, Marostica, Eleonora, Crinò, Antonino, Marzullo, Paolo, De Nicolao, Giuseppe, Sartorio, Alessandro
Published in Clinical endocrinology (Oxford) (01.08.2013)
Published in Clinical endocrinology (Oxford) (01.08.2013)
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