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. +13 more·2013·New England Journal of Medicine
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- Consequences of Early Life Programing by Genetic and Environmental Influences: A Synthesis Regarding Pubertal TimingChristian Ludwig Roth, Sara A. DiVall · 2015 · Endocrine development
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- 60 YEARS OF NEUROENDOCRINOLOGY: MEMOIR: Harris' neuroendocrine revolution: of portal vessels and self-primingGeorge Fink · 2015 · Journal of Endocrinology
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- Fatness rather than leptin sensitivity determines the timing of puberty in female miceTabata Mariz Bohlen, Marina Augusto Silveira, Thais T. Zampieri, Renata Frazão, José Donato · 2016 · Molecular and Cellular Endocrinology
- DNA Methylation Patterns in the Hypothalamus of Female Pubertal GoatsYang Chen, Jing Ye, Xiumei Li, Xiaoxiao Gao, Kaifa Zhang, Lei Luo, Jianping Ding, Yunhai Zhang, Yunsheng Li, Hongguo Cao et al. · 2016 · PLoS ONE
- PubertySelma Feldman Witchel, Ali Kemal Topaloglu · 2019 · Elsevier eBooks
- The Makorin lep-2 and the lncRNA lep-5 regulate lin-28 to schedule sexual maturation of the C. elegans nervous systemHannah Lawson, Edward Vuong, Renee M. Miller, Karin C. Kiontke, David H. A. Fitch, Douglas Portman · 2019 · eLife
- Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader–Willi and Alström syndromesMerlin G. Butler, Kun Wang, Jürgen Κ. Naggert, Jasmine A. Rethmeyer, Sumedha Gunewardena, Ann M. Manzardo, Jan D. Marshall · 2015 · Advances in Genomics and Genetics
- An update on the genetic causes of central precocious pubertyYoung‐Lim Shin · 2016 · Annals of Pediatric Endocrinology & Metabolism
- Genetics of pubertal timingAlessandra Mancini, John Christopher Magnotto, Ana Paula Abreu · 2022 · Best Practice & Research Clinical Endocrinology & Metabolism
- Epigenetics: A New Player in the Regulation of Mammalian PubertyPaulina A. Rzeczkowska, Huayan Hou, Michael D. Wilson, Mark R. Palmert · 2014 · Neuroendocrinology
- Insights from exome sequencing for endocrine disordersChristiaan de Bruin, Andrew Nahum Dauber · 2015 · Nature Reviews Endocrinology
- Puberty in Non-human Primates and ManTony M. Plant, Ei Terasawa, Selma Feldman Witchel · 2014 · Elsevier eBooks
- Pituitary Physiology and Diagnostic EvaluationUrsula B. Kaiser, Ken K. Y. Ho · 2016 · Elsevier eBooks
- Prader-Willi syndrome: reflections on seminal studies and future therapiesMichael S. Chung, Maéva Langouët, Stormy J. Chamberlain, Gordon Carmichael · 2020 · Open Biology
- Xenoestrogens Ethinyl Estradiol and Zearalenone Cause Precocious Puberty in Female Rats via Central Kisspeptin SignalingRókus Kriszt, Zsuzsanna Winkler, Ágnes Polyák, Dániel Kuti, Csilla Molnár, Erik Hrabovszky, Imre Kalló, Zsuzsanna Szőke, Szilamér Ferenczi, Krisztina Kovács · 2015 · Endocrinology
- Pubertal Onset in Girls is Strongly Influenced by Genetic Variation Affecting FSH ActionCasper Petri Hagen, Kaspar Sørensen, Lise Aksglæde, Annette Mouritsen, Mikkel Grunnet Mieritz, Jeanette Tinggaard, Christine Wohlfahrt‐Veje, Jørgen Holm Petersen, Katharina Maria Main, Ewa Rajpert‐De Meyts et al. · 2014 · Scientific Reports
- A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 geneAnna Grandone, Grazia Cantelmi, Grazia Cirillo, Pierluigi Marzuillo, Caterina Luongo, Emanuele Miraglia del Giudice, Laura Perrone · 2015 · BMC Endocrine Disorders
- In silico analysis of a novel MKRN 3 missense mutation in familial central precocious pubertyVassos Neocleous, Christos Shammas, Marie M. Phelan, Stella Nicolaou, Leonidas A. Phylactou, Nicos Skordis · 2015 · Clinical Endocrinology
- Clinical phenotypes of MAGEL2 mutations and deletionsKarin Buiting, Nataliya Di Donato, Jasmin Beygo, Susanne Bens, Maja von der Hagen, Karl Hackmann, Bernhard Horsthemke · 2014 · Orphanet Journal of Rare Diseases
- Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort studyAna Pinheiro Machado Canton, Flávia Rezende Tinano, Leonardo Guasti, Luciana Ribeiro Montenegro, Fiona Ryan, Deborah J. Shears, Maria Edna de Melo, Larissa Garcia Gomes, Mariana P Piana, Raja Brauner et al. · 2023 · The Lancet Diabetes & Endocrinology
- Precocious Puberty: Types, Pathogenesis and Updated ManagementAhmed Alghamdi · 2023 · Cureus
- Kisspeptin and neurokinin B: roles in reproductive healthKanyada Koysombat, Jovanna Tsoutsouki, Aaran Patel, Alexander N. Comninos, Waljit Singh Dhillo, Ali Abbara · 2025 · Physiological Reviews
- Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter RegionDelanie Bulcão Macedo, Monica Malheiros França, Luciana Ribeiro Montenegro, Marina Cunha-Silva, Danielle de Souza Bessa, Ana Paula Abreu, Ursula B. Kaiser, Berenice Bilharinho Mendonca, Alexander A.L. Jorge, Vinícius Nahime Brito et al. · 2018 · Neuroendocrinology
- Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5′-UTR Region of the Imprinted MKRN3 GenePavlos Fanis, Nicos Skordis, Meropi Toumba, Nikoletta Y. Papaioannou, Anestis Makris, Andreas Kyriakou, Vassos Neocleous, Leonidas A. Phylactou · 2019 · Frontiers in Endocrinology
- Insights from the genetic characterization of central precocious puberty associated with multiple anomaliesAna Pinheiro Machado Canton, Ana Cristina Victorino Krepischi, Luciana Ribeiro Montenegro, Silvia Souza da Costa, Carla Rosenberg, Virginie Steunou, Marie‐Laure Sobrier, Lucas Santos de Santana, Rachel Sayuri Honjo, Chong Ae Kim et al. · 2020 · Human Reproduction
- The KiNG of reproduction: Kisspeptin/ nNOS interactions shaping hypothalamic GnRH releaseVirginia Delli, Mauro S. B. Silva, Vincent Prévot, Konstantina Chachlaki · 2021 · Molecular and Cellular Endocrinology
- Genetics of hypogonadotropic Hypogonadism—Human and mouse genes, inheritance, oligogenicity, and genetic counselingErica D. Louden, Alexandra Poch, Hyung‐Goo Kim, Afif Ben‐Mahmoud, Soo‐Hyun Kim, Lawrence Clarke Layman · 2021 · Molecular and Cellular Endocrinology
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- MKRN3 and KISS1R mutations in precocious and early pubertySara Pagani, Valeria Calcaterra, Gloria Acquafredda, Chiara Montalbano, Elena Bozzola, Pietro Ferrara, Manuela Gasparri, Alberto Villani, Mauro Bozzola · 2020 · The Italian Journal of Pediatrics/Italian journal of pediatrics
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