Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3
Abreu, Ana Paula, Dauber, Andrew, Macedo, Delanie B, Noel, Sekoni D, Brito, Vinicius N, Gill, John C, Cukier, Priscilla, Thompson, Iain R, Navarro, Victor M, Gagliardi, Priscila C, Rodrigues, Tânia, Kochi, Cristiane, Longui, Carlos Alberto, Beckers, Dominique, de Zegher, Francis, Montenegro, Luciana R, Mendonca, Berenice B, Carroll, Rona S, Hirschhorn, Joel N, Latronico, Ana Claudia, Kaiser, Ursula B
Published in The New England journal of medicine (27.06.2013)
Published in The New England journal of medicine (27.06.2013)
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Genotype–Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations
Seraphim, Carlos Eduardo, Canton, Ana Pinheiro Machado, Montenegro, Luciana, Piovesan, Maiara Ribeiro, Macedo, Delanie B, Cunha, Marina, Guimaraes, Aline, Ramos, Carolina Oliveira, Benedetti, Anna Flavia Figueiredo, de Castro Leal, Andrea, Gagliardi, Priscila C, Antonini, Sonir R, Gryngarten, Mirta, Arcari, Andrea J, Abreu, Ana Paula, Kaiser, Ursula B, Soriano-Guillén, Leandro, Escribano-Muñoz, Arancha, Corripio, Raquel, Labarta, José I, Travieso-Suárez, Lourdes, Ortiz-Cabrera, Nelmar Valentina, Argente, Jesús, Mendonca, Berenice B, Brito, Vinicius N, Latronico, Ana Claudia
Published in The journal of clinical endocrinology and metabolism (01.04.2021)
Published in The journal of clinical endocrinology and metabolism (01.04.2021)
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CLCN2 chloride channel mutations in familial hyperaldosteronism type II
Scholl, Ute I., Stölting, Gabriel, Schewe, Julia, Thiel, Anne, Tan, Hua, Nelson-Williams, Carol, Vichot, Alfred A., Jin, Sheng Chih, Loring, Erin, Untiet, Verena, Yoo, Taekyeong, Choi, Jungmin, Xu, Shengxin, Wu, Aihua, Kirchner, Marieluise, Mertins, Philipp, Rump, Lars C., Onder, Ali Mirza, Gamble, Cory, McKenney, Daniel, Lash, Robert W., Jones, Deborah P., Chune, Gary, Gagliardi, Priscila, Choi, Murim, Gordon, Richard, Stowasser, Michael, Fahlke, Christoph, Lifton, Richard P.
Published in Nature genetics (01.03.2018)
Published in Nature genetics (01.03.2018)
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Randomized Trial of Aromatase Inhibitors, Growth Hormone, or Combination in Pubertal Boys with Idiopathic, Short Stature
Mauras, Nelly, Ross, Judith L, Gagliardi, Priscila, Yu, Y. Miles, Hossain, Jobayer, Permuy, Joseph, Damaso, Ligeia, Merinbaum, Debbie, Singh, Ravinder J, Gaete, Ximena, Mericq, Veronica
Published in The journal of clinical endocrinology and metabolism (01.12.2016)
Published in The journal of clinical endocrinology and metabolism (01.12.2016)
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Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination
Magnotto, John C, Mancini, Alessandra, Bird, Keisha, Montenegro, Luciana, Tütüncüler, Filiz, Pereira, Sidney A, Simas, Vitoria, Garcia, Leonardo, Roberts, Stephanie A, Macedo, Delanie, Magnuson, Melissa, Gagliardi, Priscila, Mauras, Nelly, Witchel, Selma F, Carroll, Rona S, Latronico, Ana Claudia, Kaiser, Ursula B, Abreu, Ana Paula
Published in The journal of clinical endocrinology and metabolism (01.07.2023)
Published in The journal of clinical endocrinology and metabolism (01.07.2023)
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Quality of Life in Adolescent Boys with Idiopathic Short Stature: Positive Impact of Growth Hormone and Aromatase Inhibitors
Bullinger, Monika, Bloemeke, Janika, Mericq, Veronica, Sommer, Rachel, Gaete, Xiemena, Ross, Judith L, Yu, Y Miles, Permuy, Joseph, Gagliardi, Priscila, Damaso, Y Ligeia, Mauras, Nelly
Published in Hormone research in paediatrics (01.01.2018)
Published in Hormone research in paediatrics (01.01.2018)
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MON-251 Clinical Features of a Large Cohort of Patients with Familial Central Precocious Puberty Caused by Loss-of-Function Mutations in MKRN3
Seraphim, Carlos, Canton, Ana, Montenegro, Luciana, Piovesan, Maiara, Cunha-Silva, Marina, Macedo, Delanie, Guimarães, Aline, Ramos, Carolina, Gagliardi, Priscila, Abreu, Ana Paula, Kaiser, Ursula, Mendonca, Berenice, Brito, Vinicius, Latronico, Ana Claudia
Published in Journal of the Endocrine Society (30.04.2019)
Published in Journal of the Endocrine Society (30.04.2019)
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SUN-264 Mutations in the Maternally Imprinted Genes, MKRN3 and DLK1, Associated with Central Precocious Puberty
Abreu, Ana Paula, Garcia, Leonardo, Pereira, Sidney, Macedo, Delanie, Magnusson, Melissa, Gagliardi, Priscila, Tütüncüler, Filiz, Bird, Keisha, Lofrano-Porto, Adriana, Roberts, Stephanie, Carroll, Rona, Latronico, Ana Claudia, Kaiser, Ursula
Published in Journal of the Endocrine Society (30.04.2019)
Published in Journal of the Endocrine Society (30.04.2019)
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SUN-085 Clinical and Hormonal Features of 37 Families with Central Precocious Puberty Due to MKRN3 Loss-Of -Function Mutations
Seraphim, Carlos Eduardo, Canton, Ana Pinheiro Machado, Montenegro, Luciana Ribeiro, Piovesan, Maiara Ribeiro, Bohlen, Tabata Mariz, Frazao, Renata, Macedo, Delanie Bulcão, de Faria, Aline Guimarães, Ramos, Carolina, Gagliardi, Priscila Carvalho, Abreu, Ana Paula, Leal, Andrea de Castro, Castro, Margaret De, Antonini, Sonir Roberto Rauber, Soriano-Guillén, Leandro, Escribano-Muñoz, Arancha, Collado, Raquel Corripio, Labarta, Jose Ignacio, Lourdes, Travieso-Suárez, Ortiz-Cabrera, Neimar Valentina, Argente, Jesús, Mendonca, Berenice Bilharinho, Kaiser, Ursula B, Brito, Vinicius Nahime, Latronico, Ana Claudia
Published in Journal of the Endocrine Society (08.05.2020)
Published in Journal of the Endocrine Society (08.05.2020)
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PROCESSO DE CRIAÇÃO DA OBRA COREOGRÁFICA JEZEBEL
Gagliardi, Priscila Ramos, Macedo, Christiane Gracia, Haas, Aline Nogueira
Published in Cena (11.01.2016)
Published in Cena (11.01.2016)
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Autosomal Dominant Neurohypophyseal Diabetes Insipidus Associated with a Missense Mutation Encoding Gly 23 →Val in Neurophysin II 1
Gagliardi, Priscila C., Bernasconi, Sergio, Repaske, David R.
Published in The journal of clinical endocrinology and metabolism (01.11.1997)
Published in The journal of clinical endocrinology and metabolism (01.11.1997)
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A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus
DiMeglio, L A, Gagliardi, P C, Browning, J E, Quigley, C A, Repaske, D R
Published in Molecular genetics and metabolism (01.01.2001)
Published in Molecular genetics and metabolism (01.01.2001)
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A Missense Mutation Encoding Cys67 → Gly in Neurophysin II Is Associated with Early Onset Autosomal Dominant Neurohypophyseal Diabetes Insipidus
DiMeglio, Linda A., Gagliardi, Priscila C., Browning, James E., Quigley, Charmian A., Repaske, David R.
Published in Molecular genetics and metabolism (01.01.2001)
Published in Molecular genetics and metabolism (01.01.2001)
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