A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene

Autor: Cavarzere Paolo, Gastaldi Andrea, Francesca Marta Elli, Gaudino Rossella, Peverelli Erika, Brugnara Milena, Susanne Thiele, Granata Francesca, Mantovani Giovanna, Antoniazzi Franco

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

Abstract Background GNAS is a complex gene that encodes Gsα, a signaling protein that triggers a complex network of pathways. Heterozygous inactivating mutations in Gsα-coding GNAS exons cause hormonal resistance; on the contrary, activating mutati

Externí odkaz: https://doaj.org/article/a95747950f024141a285905c723866ff

Correction to: A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene

Autor: Paolo Cavarzere, Andrea Gastaldi, Francesca Marta Elli, Rossella Gaudino, Erika Peverelli, Milena Brugnara, Susanne Thiele, Francesca Granata, Giovanna Mantovani, Franco Antoniazzi

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-1 (2022)

Externí odkaz: https://doaj.org/article/3cd974cfae2041ad8dc03f10d9273e43

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients

Autor: Luisa De Sanctis, Francesca Elli, Guiomar Perez de Nanclares, Agnès Linglart, Susanne Thiele, Patrick Hanna, Giovanna Mantovani, Arrate Pereda, Bruno Francou, Diana-Alexandra Ertl, Anya Rothenbuhler

Publikováno v: European Journal of Endocrinology. 184:311-320

Objective Pseudohypoparathyroidism and related disorders belong to a group of heterogeneous rare diseases that share an impaired signaling downstream of Gsα-protein-coupled receptors. Affected patients may present with various combination of symptom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed366eeccbdb7c81d1ae32fe02f6f812
https://doi.org/10.1530/eje-20-0625

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

Autor: Serap Turan, Eileen M. Shore, Murat Bastepe, Olaf Hiort, Agnès Linglart, Francesca Elli, Roberto Bufo, Guiomar Perez de Nanclares, Michael A. Levine, Beatriz Lecumberri, M. Carola Zillikens, Rebeca Rodado, Vrinda Saraff, Ashley H. Shoemaker, Luisa De Sanctis, Guillemette Devernois, Gianpaolo De Filippo, Aurora Garcia Ramirez, Philip Murray, Susanne Thiele, Outi Mäkitie, Lars Rejnmark, Regina Matsunaga Martin, Manasori Minagawa, Timothee Choplin, Emily L. Germain-Lee, Giovanna Mantovani, Peter Kamenický, Harald Jüppner, Lionel Groussin, Nina Knight, Elvire Le Norcy, Anya Rothenbuhler, Neveen A. T. Hamdy, Robert J. Pignolo, David Monk, Thomas Eggermann, Caroline Silve, Arrate Pereda, Gabriel Á. Martos-Moreno, S Faisal Ahmed, Philip Woods, Patrick Hanna

Publikováno v: Hormone Research in Paediatrics, 93(3), 182-196. Karger
Horm Res Paediatr
Mantovani, G, Bastepe, M, Monk, D, De Sanctis, L, Thiele, S, Ahmed, S F, Bufo, R, Choplin, T, De Filippo, G, Devernois, G, Eggermann, T, Elli, F M, Garcia Ramirez, A, Germain-Lee, E L, Groussin, L, Hamdy, N A T, Hanna, P, Hiort, O, Jüppner, H, Kamenický, P, Knight, N, Le Norcy, E, Lecumberri, B, Levine, M A, Mäkitie, O, Martin, R, Martos-Moreno, G Á, Minagawa, M, Murray, P, Pereda, A, Pignolo, R, Rejnmark, L, Rodado, R, Rothenbuhler, A, Saraff, V, Shoemaker, A H, Shore, E M, Silve, C, Turan, S, Woods, P, Zillikens, M C, Perez De Nanclares, G & Linglart, A 2020, ' Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders : An Updated Practical Tool for Physicians and Patients ', Hormone Research in Paediatrics, vol. 93, no. 3, pp. 182-196 . https://doi.org/10.1159/000508985
Hormone Research in Paediatrics, 93(3), 182-196. KARGER

Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, and neurodevelopmental defici

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a731aab723ad975230021f30619d2ad
https://doi.org/10.1159/000508985

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity

Autor: Daniele Tessaris, Alessia Usardi, Guiomar Perez de Nanclares, Giovanna Mantovani, Virginie Grybek, Luisa De Sanctis, Susanne Thiele, Anya Rothenbuhler, Arrate Pereda, Peter Kamenicky, Léa C. Tran, Agnès Linglart, Marie Laure Kottler, Léa Linglart, Francesca Elli, Harald Jüppner, Bruno Francou, Ashley H. Shoemaker, Javier Errea, Patrick Hanna

Publikováno v: Journal of Bone and Mineral Research. 33:1480-1488

Pseudohypoparathyroidism type 1A (PHP1A), pseudoPHP (PPHP), and PHP type 1B (PHP1B) are caused by maternal and paternal GNAS mutations and abnormal methylation at maternal GNAS promoter(s), respectively. Adult PHP1A patients are reportedly obese and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::39478c740b9231bea674c9e11f597c33
https://doi.org/10.1002/jbmr.3450