Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Mariacarolina Salerno"'
Autor:
Martin O. Savage, Donatella Capalbo, Vivian Hwa, Helen L Storr, Avinaash Maharaj, Sumana Chatterjee, Mariacarolina Salerno, Katharina Schilbach, Stefania Palumbo, Claudio Pignata, Emanuele Miraglia del Giudice, Louise A. Metherell, Grazia Cirillo, Emily Cottrell, Anna Grandone, Jack Williams, Martin Bidlingmaier, Adalgisa Festa
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Context Severe forms of growth hormone insensitivity (GHI) are characterized by extreme short stature, dysmorphism, and metabolic anomalies. Objective This work aims to identify the genetic cause of growth failure in 3 “classical” GHI individuals
Autor:
Eggermann T., Elbracht M., Kurth I., Juul A., Johannsen T. H., Netchine I., Mastorakos G., Johannsson G., Musholt T. J., Zenker M., Prawitt D., Pereira A. M., Hiort O., Stefan Riedl, Birgit Rami-Merhar, Greisa Vila, Sabina Baumgartner-Parzner, Walter Bonfig, Claudine Heinrichs, Dominique Maiter, Inge Gies, Martine Cools, Kristina Casteels, Albert Beckers, Sabina Zacharieva, Violeta Iotova, Tomislav Jukic, Dario Rahelic, Vassos Neocleous, Leonidas Phylactou, Michal Krsek, Jan Lebl, Claus Gravholt, Anders Juul, Vallo Tillmann, Vallo Volke, Tapani Ebeling, Thierry Brue, Patrice Rodien, Jérôme Bertherat, Christine Poitou Bernert, Philippe Touraine, Philippe Chanson, Michel Polak, Maithe Tauber, Thomas Eggermann, Joachim Spranger, Dagmar Fuhrer, Thomas Danne, Olaf Hiort, Klaus Mohnike, Dirk Prawitt, Markus Luster, Nicole Reisch, Martin Reincke, Julia Rohayem, Martin Fassnacht, Miklós Tóth, Alessandra Cassio, Sonia Toni, Csilla Krausz, Barbara Piccini, Diego Ferone, Gianni Russo, Luca Persani, Annamaria Colao, Mariacarolina Salerno, Marco Boscaro, Carla Scaroni, Ferruccio Santini, Giovanni Ceccarini, Ezio Ghigo, Iveta Dzivite-Krisane, Vita Rovite, Lauma Janozola, Rasa Verkauskiene, Michael Witsch, James Clark, Johannes Romijn, Thera Links, Nienke Biermasz, Sabine Hannema, Bas Havekes, Hedi Claahsen-van der Grinten, Henri Timmers, Robin Peeters, Gerlof Valk, A A Verrijn Stuart, Harm Haak, Eystein Husebye, Jens Bollerslev, Barbara Jarzab, Agnieszka 'Szypowska, João-Filipe Raposo, Dana Craiu, Doina Piciu, Ludmila Kostalova, Jarmila Vojtková, Tadej Battelino, Roque Cardona-Hernandez, Diego Yeste, Sonia Gaztambide, Anna Nordenström, Neil Gittoes, Trevor Cole, Elizabeth Crowne, Faisal Ahmed, Mohammed Didi, Marta Korbonits, Mehul Dattani, Peter Clayton, Justin Davies
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases: OJRD 15(1), 144 (2020). doi:10.1186/s13023-020-01420-w
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-16 (2020)
Eggermann, T, Elbracht, M, Kurth, I, Juul, A, Johannsen, T H, Netchine, I, Mastorakos, G, Johannsson, G, Musholt, T J, Zenker, M, Prawitt, D, Pereira, A M, Hiort, O & European Reference Network on Rare Endocrine Conditions (ENDO-ERN 2020, ' Genetic testing in inherited endocrine disorders : joint position paper of the European reference network on rare endocrine conditions (Endo-ERN) ', Orphanet Journal of Rare Diseases, vol. 15, 144 . https://doi.org/10.1186/s13023-020-01420-w
Orphanet journal of rare diseases: OJRD 15(1), 144 (2020). doi:10.1186/s13023-020-01420-w
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-16 (2020)
Eggermann, T, Elbracht, M, Kurth, I, Juul, A, Johannsen, T H, Netchine, I, Mastorakos, G, Johannsson, G, Musholt, T J, Zenker, M, Prawitt, D, Pereira, A M, Hiort, O & European Reference Network on Rare Endocrine Conditions (ENDO-ERN 2020, ' Genetic testing in inherited endocrine disorders : joint position paper of the European reference network on rare endocrine conditions (Endo-ERN) ', Orphanet Journal of Rare Diseases, vol. 15, 144 . https://doi.org/10.1186/s13023-020-01420-w
Orphanet journal of rare diseases: OJRD 15(1), 144 (2020). doi:10.1186/s13023-020-01420-w
Published by BioMed Central, London
Published by BioMed Central, London
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21bcdab9c1079b70ef2ccebfd8d9b677
Autor:
Chiara Guzzetti, Sandro Loche, Mariacarolina Salerno, Anastasia Ibba, Anna Allegri, Marco Cappa, Mohamad Maghnie, Natascia Di Iorgi, Letizia Casula
Publikováno v:
Clinical Endocrinology. 89:765-770
OBJECTIVE: The diagnosis of growth hormone deficiency (GHD) is currently based on clinical, auxological, biochemical and neuro-radiological investigation. Provocative tests of GH secretion using physiological/pharmacological stimuli are required to c
Autor:
Manuela Cerbone, Mariacarolina Salerno, Davide Soranna, Letizia Maria Fatti, Antonella Zambon, Luca Persani, M. Moro, Nicola Improda, Mehul T. Dattani, Marco Bonomi, Elena Galazzi
Objectives: Sex steroids, administered as a priming before GH stimulation tests (GHST) to differentiate between growth hormone deficiency (GHD) and constitutional delay of growth and puberty (CDGP) or as growth-promoting therapy using low-dose sex st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10a42585367c8564183df05b0f6b8e3e
http://hdl.handle.net/10281/286719
http://hdl.handle.net/10281/286719
Autor:
Giuseppa Patti, Sandro Loche, Letizia Casula, Chiara Guzzetti, Marco Cappa, Mohamad Maghnie, Gianluca Tornese, Mariacarolina Salerno, Francesca Corrias, Anastasia Ibba, Giorgio Radetti, Natascia Di Iorgi
Publikováno v:
Endocrine Connections
Endocrine Connections, Vol 9, Iss 11, Pp 1095-1102 (2020)
Endocrine Connections, Vol 9, Iss 11, Pp 1095-1102 (2020)
A number of studies have evaluated the role of IGF1 measurement in the diagnosis of growth hormone deficiency (GHD). This study aimed to evaluate the accuracy and the best cut-off of IGF1 SDS in the diagnosis of GHD in a large cohort of short childre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61662c0708b52a6baade11e0d98a2e43
http://hdl.handle.net/11588/828457
http://hdl.handle.net/11588/828457
Autor:
Laura Perrone, Annalaura Torella, Emanuele Miraglia del Giudice, Mariacarolina Salerno, Filippo De Luca, Pierluigi Marzuillo, Francesca Del Vecchio Blanco, Vincenzo Nigro, Maria Francesca Messina, Alessia Sallemi, Lucia Perone, Raffaella Di Mase, Anna Grandone, M. Caruso
Publikováno v:
Hormone Research in Paediatrics. 86:330-336
Aims: We aimed at evaluating a standard multiplex ligation-dependent probe amplification (MLPA) probe set for the detection of aneuploidy to diagnose Turner syndrome (TS). We first fixed an MLPA ratio cutoff able to detect all cases of TS in a pilot
Autor:
Mariacarolina Salerno, M. Caruso-Nicoletti, Maria E. Street, Mariangela Cisternino, Lorenzo Iughetti, Malgorzata Wasniewska, Stefano Zucchini, Stefano Cianfarani, Mohamad Maghnie
Publikováno v:
European Journal of Pediatrics. 167:677-681
By retrospectively collecting data from nine Italian centres of pediatric endocrinology, we assessed the different management and final outcome of children with short stature and idiopathic delayed puberty. Data were obtained in 77 patients (54 males
Autor:
Sandro Loche, Giuliana M. Cardinale, Manuela Caruso Nicoletti, Piernicola Garofalo, Giuseppe Citro, Maria Rosaria Licenziati, Salvatore Longobardi, M. Maghnie, Mariacarolina Salerno, Raffaella Perrone
Publikováno v:
International Journal of Pediatric Endocrinology
Recombinant human growth hormone (r-hGH) is indicated for pediatric patients with a variety of growth disorders. Treatment with r-hGH requires long-term daily injections (1). Non-adherence or low adherence to treatment is associated with less favorab
Autor:
Valentina Ronga, Rita Genesio, Maria Pia Riccio, Antonella Izzo, Lucio Nitsch, Alberto Casertano, Generoso Andria, Daniela Melis, Mariacarolina Salerno, Carmela Bravaccio, Gerarda Cappuccio
Publikováno v:
American journal of medical genetics. Part A. (3)
Langer-Giedion syndrome (LGS) is caused by a deletion of chromosome 8q23.3-q24.11. The LGS clinical spectrum includes intellectual disability (ID), short stature, microcephaly, facial dysmorphisms, exostoses. We describe a 4-year-old girl with ID, sh
Autor:
Claudio Pignata, Donatella Capalbo, Loredana Palamaro, Viviana Cordeddu, Mariacarolina Salerno, S. Riccomagno, L. De Martino, Gianni Bona, Daniela Melis
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721), recently related to the invariant c.4A>G missense change in SHOC2, is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated with g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9c4417e341c45cda6d6e9a4db0205b2
http://hdl.handle.net/11386/4744738
http://hdl.handle.net/11386/4744738