Human Genome Epidemiology Literature Finder
Rare Diseases
|
Records 1 - 30 (of 79 Records) |
| Query Trace: Precocious Puberty[original query] |
|---|
| Relationship between growth velocity and change of levels of insulin-like growth factor-1, insulin-like growth factor binding protein-3 and, IGFBP-3 promoter polymorphism during GnRH agonist treatment. Annals of pediatric endocrinology & metabolism 2020 9 25 (4): 234-239. Park Jun-Hong, Hwang Il-Tae, Yang Seu |
| Makorin RING finger protein 3 and central precocious puberty. Current opinion in endocrine and metabolic research 2020 9 14 152-159. Maione Luigi, Naulé Lydie, Kaiser Ursula |
| Genotype and clinical outcomes in children with congenital adrenal hyperplasia. Pediatrics international : official journal of the Japan Pediatric Society 2020 9 63 (6): 658-663. Yoon Ju Young, Cheon Chong K |
| Association study of DLK1 in girls with idiopathic central precocious puberty. Journal of pediatric endocrinology & metabolism : JPEM 2020 Jul . Lee Hae Sang, Kim Kyung Hee, Hwang Jin So |
| Novel Genetic and Biochemical Findings of DLK1 in Children with Central Precocious Puberty: A Brazilian-Spanish Study. The Journal of clinical endocrinology and metabolism 2020 7 105 (10): . Montenegro Luciana, Labarta José I, Piovesan Maira, Canton Ana P M, Corripio Raquel, Soriano-Guillén Leandro, Travieso-Suárez Lourdes, Martín-Rivada Álvaro, Barrios Vicente, Seraphim Carlos E, Brito Vinicius N, Latronico Ana Claudia, Argente Jes |
| Heterozygous Deletions in MKRN3 Cause Central Precocious Puberty Without Prader-Willi Syndrome. The Journal of clinical endocrinology and metabolism 2020 6 105 (8): 2732-9. Meader Brooke N, Albano Alessandro, Sekizkardes Hilal, Delaney Ange |
| MKRN3 and KISS1R mutations in precocious and early puberty. Italian journal of pediatrics 2020 4 46 (1): 39. Pagani Sara, Calcaterra Valeria, Acquafredda Gloria, Montalbano Chiara, Bozzola Elena, Ferrara Pietro, Gasparri Manuela, Villani Alberto, Bozzola Mau |
Genetic factors of idiopathic central precocious puberty and their polygenic risk in early puberty.
European journal of endocrinology 2021 Jul . Lin Wei-De, Cheng Chi-Fung, Wang Chung-Hsing, Liang Wen-Miin, Chen Chien-Hsiun, Hsieh Ai-Ru, Chiu Mu-Lin, Lin Ting-Hsu, Liao Chiu-Chu, Huang Shao-Mei, Tsai Chang-Hai, Chang Cherry Yin-Yi, Lin Ying-Ju, Tsai Fuu-J |
| POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature. Pituitary 2021 3 24 (5): 657-669. Jadhav Swati, Diwaker Chakra, Lila Anurag R, Gada Jugal V, Kale Shantanu, Sarathi Vijaya, Thadani Puja M, Arya Sneha, Patil Virendra A, Shah Nalini S, Bandgar Tushar |
| Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB. Scientific reports 2021 2 11 (1): 4203. Sharma Mridula, Kundu Indra, Barai Ram Shankar, Bhaye Sameeksha, Desai Karishma, Pokar Khushal, Idicula-Thomas Sus |
| Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty. Frontiers in endocrinology 2021 10 12 745048. Neocleous Vassos, Fanis Pavlos, Toumba Meropi, Gorka Barbara, Kousiappa Ioanna, Tanteles George A, Iasonides Michalis, Nicolaides Nicolas C, Christou Yiolanda P, Michailidou Kyriaki, Nicolaou Stella, Papacostas Savvas S, Christoforidis Athanasios, Kyriakou Andreas, Vlachakis Dimitrios, Skordis Nicos, Phylactou Leonidas |
| Molecular screening of PROKR2 gene in girls with idiopathic central precocious puberty. Italian journal of pediatrics 2021 1 47 (1): 5. Aiello Francesca, Cirillo Grazia, Cassio Alessandra, Di Mase Raffaella, Tornese Gianluca, Umano Giuseppina R, Miraglia Del Giudice Emanuele, Grandone An |
| Obesity-related genetic polymorphisms are associated with the risk of early puberty in Han Chinese girls. Clinical endocrinology 2021 Nov . Li Di, Zhang Boxian, Cheng Jinquan, Chen Dingyan, Wu Yu, Luo Qingshan, Zhou |
| Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant. Journal of the Endocrine Society 2022 9 6 (10): bvac127. Flippo Chelsi, Kolli Vipula, Andrew Melissa, Berger Seth, Bhatti Tricia, Boyce Alison M, Casella Daniel, Collins Michael T, Délot Emmanuèle, Devaney Joseph, Hewitt Stephen M, Kolon Thomas, Mallappa Ashwini, White Perrin C, Merke Deborah P, Dauber Andr |
| Gene Polymorphisms Associated with Central Precocious Puberty and Hormone Levels in Chinese Girls. International journal of endocrinology 2022 2022 9450663. Li Yunwei, Tao Na, Chen Minghui, Chu Jiang, Huang Xinwei, Kong Xiangya |
| Genetic causes of central precocious puberty. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2022 8 31 (3): 101-109. Tajima Toshihi |
| Circulating levels of DLK1 and glucose homeostasis in girls with obesity: A pilot study. Frontiers in endocrinology 2022 12 13 1033179. Palumbo Stefania, Umano Giuseppina Rosaria, Aiello Francesca, Cirillo Grazia, Miraglia Del Giudice Emanuele, Grandone An |
| Effects of childhood obesity and related genetic factors on precocious puberty: protocol for a multi-center prospective cohort study. BMC pediatrics 2022 May 22 (1): 310. Yu Tingting, Yu Ying, Li Xiaoqing, Xue Peng, Yu Xiaodan, Chen Yao, Kong Huijun, Lin Cuilan, Wang Xiumin, Mei Hao, Wang Dan, Liu Shiji |
| Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen. International journal of neonatal screening 2023 9 9 (3): . Bonnie McCann-Crosby, Mark C Liang, Mitchell E Geffner, Christina M Koppin, Nicole R Fraga, V Reid Sutton, Lefkothea P Karaviti, Gagandeep Bhullar, Mimi S K |
| Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty. Journal of pediatric endocrinology & metabolism : JPEM 2023 3 . K?rkgöz Tar?k, Kaygusuz Sare Betül, Alavanda Ceren, Helvac?o?lu Didem, Abal? Zehra Yava?, Tosun Bü?ra Gürp?nar, Eltan Mehmet, Menev?e Tuba Seven, Guran Tulay, Arman Ahmet, Turan Serap, Bereket Abdull |
| The functional study of a novel MKRN3 missense mutation associated with familial central precocious puberty. American journal of medical genetics. Part A 2023 12 . Ziwei Chen, Qing You, Junqi Wang, Zhiya Dong, Wei Wang, Yuanyan Yang, Xiaoyu Ma, Chuanyin Li, Wenli |
| MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations. Journal of endocrinological investigation 2023 12 . F Aiello, S Palumbo, G Cirillo, G Tornese, D Fava, M Wasniewska, M F Faienza, M Bozzola, C Luongo, A Festa, E Miraglia Del Giudice, A Grando |
| A comprehensive meta-analysis to identify susceptibility genetic variants for precocious puberty. Annals of human genetics 2023 11 . Xiuli Gu, Weining Xiong, Yan Yang, Honggang Li, Chengliang Xio |
| Clinical and genetic characterization of familial central precocious puberty. The Journal of clinical endocrinology and metabolism 2023 1 . Tinano Flávia Rezende, Canton Ana Pinheiro Machado, Montenegro Luciana R, de Castro Leal Andrea, Faria Aline G, Seraphim Carlos E, Brauner Raja, Jorge Alexander A, Mendonca Berenice B, Argente Jesús, Brito Vinicius N, Latronico Ana Claud |
| The rs6576457 G?>?A variant in the MKRN3 gene promoter significantly increases the risk of central precocious puberty and lung cancer in Hubei Chinese population. Human molecular genetics 2024 9 . Feng Wu, Weiguang Zhou, Zhengchu Yue, Xiangyuan Deng, Wenqiang Kang, Zhiyan Yu, Haixia Zhang, Bixin Zhang, Xianhong Feng, Qiantao Xiong, Bifeng Ch |
| [Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 8 41 (8): 941-946. Xi Wang, Yaodong Zhang, Mengmeng Du, Haihua Yang, Xiaojing Liu, Mengqin Wang, Jiajia Chen, Yongxing Chen, Haiyan W |
| Understanding the genetic complexity of puberty timing across the allele frequency spectrum. Nature genetics 2024 7 . Katherine A Kentistou, Lena R Kaisinger, Stasa Stankovic, Marc Vaudel, Edson Mendes de Oliveira, Andrea Messina, Robin G Walters, Xiaoxi Liu, Alexander S Busch, Hannes Helgason, Deborah J Thompson, Federico Santoni, Konstantin M Petricek, Yassine Zouaghi, Isabel Huang-Doran, Daniel F Gudbjartsson, Eirik Bratland, Kuang Lin, Eugene J Gardner, Yajie Zhao, Raina Y Jia, Chikashi Terao, Marjorie J Riggan, Manjeet K Bolla, Mojgan Yazdanpanah, Nahid Yazdanpanah, Jonathan P Bradfield, Linda Broer, Archie Campbell, Daniel I Chasman, Diana L Cousminer, Nora Franceschini, Lude H Franke, Giorgia Girotto, Chunyan He, Marjo-Riitta Järvelin, Peter K Joshi, Yoichiro Kamatani, Robert Karlsson, Jian'an Luan, Kathryn L Lunetta, Reedik Mägi, Massimo Mangino, Sarah E Medland, Christa Meisinger, Raymond Noordam, Teresa Nutile, Maria Pina Concas, Ozren Polašek, Eleonora Porcu, Susan M Ring, Cinzia Sala, Albert V Smith, Toshiko Tanaka, Peter J van der Most, Veronique Vitart, Carol A Wang, Gonneke Willemsen, Marek Zygmunt, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Antonis C Antoniou, Paul L Auer, Catriona L K Barnes, Matthias W Beckmann, Amy Berrington de Gonzalez, Natalia V Bogdanova, Stig E Bojesen, Hermann Brenner, Julie E Buring, Federico Canzian, Jenny Chang-Claude, Fergus J Couch, Angela Cox, Laura Crisponi, Kamila Czene, Mary B Daly, Ellen W Demerath, Joe Dennis, Peter Devilee, Immaculata De Vivo, Thilo Dörk, Alison M Dunning, Miriam Dwek, Johan G Eriksson, Peter A Fasching, Lindsay Fernandez-Rhodes, Liana Ferreli, Olivia Fletcher, Manuela Gago-Dominguez, Montserrat García-Closas, José A García-Sáenz, Anna González-Neira, Harald Grallert, Pascal Guénel, Christopher A Haiman, Per Hall, Ute Hamann, Hakon Hakonarson, Roger J Hart, Martha Hickey, Maartje J Hooning, Reiner Hoppe, John L Hopper, Jouke-Jan Hottenga, Frank B Hu, Hanna Huebner, David J Hunter, , Helena Jernström, Esther M John, David Karasik, Elza K Khusnutdinova, Vessela N Kristensen, James V Lacey, Diether Lambrechts, Lenore J Launer, Penelope A Lind, Annika Lindblom, Patrik K E Magnusson, Arto Mannermaa, Mark I McCarthy, Thomas Meitinger, Cristina Menni, Kyriaki Michailidou, Iona Y Millwood, Roger L Milne, Grant W Montgomery, Heli Nevanlinna, Ilja M Nolte, Dale R Nyholt, Nadia Obi, Katie M O'Brien, Kenneth Offit, Albertine J Oldehinkel, Sisse R Ostrowski, Aarno Palotie, Ole B Pedersen, Annette Peters, Giulia Pianigiani, Dijana Plaseska-Karanfilska, Anneli Pouta, Alfred Pozarickij, Paolo Radice, Gad Rennert, Frits R Rosendaal, Daniela Ruggiero, Emmanouil Saloustros, Dale P Sandler, Sabine Schipf, Carsten O Schmidt, Marjanka K Schmidt, Kerrin Small, Beatrice Spedicati, Meir Stampfer, Jennifer Stone, Rulla M Tamimi, Lauren R Teras, Emmi Tikkanen, Constance Turman, Celine M Vachon, Qin Wang, Robert Winqvist, Alicja Wolk, Babette S Zemel, Wei Zheng, Ko W van Dijk, Behrooz Z Alizadeh, Stefania Bandinelli, Eric Boerwinkle, Dorret I Boomsma, Marina Ciullo, Georgia Chenevix-Trench, Francesco Cucca, Tõnu Esko, Christian Gieger, Struan F A Grant, Vilmundur Gudnason, Caroline Hayward, Ivana Kol?i?, Peter Kraft, Deborah A Lawlor, Nicholas G Martin, Ellen A Nøhr, Nancy L Pedersen, Craig E Pennell, Paul M Ridker, Antonietta Robino, Harold Snieder, Ulla Sovio, Tim D Spector, Doris Stöckl, Cathie Sudlow, Nic J Timpson, Daniela Toniolo, André Uitterlinden, Sheila Ulivi, Henry Völzke, Nicholas J Wareham, Elisabeth Widen, James F Wilson, , , , , , , Paul D P Pharoah, Liming Li, Douglas F Easton, Pål R Njølstad, Patrick Sulem, Joanne M Murabito, Anna Murray, Despoina Manousaki, Anders Juul, Christian Erikstrup, Kari Stefansson, Momoko Horikoshi, Zhengming Chen, I Sadaf Farooqi, Nelly Pitteloud, Stefan Johansson, Felix R Day, John R B Perry, Ken K O |
| The Genetic Etiology is a Relevant Cause of Central Precocious Puberty. European journal of endocrinology 2024 6 . Ana Pinheiro Machado Canton, Carlos Eduardo Seraphim, Luciana Ribeiro Montenegro, Ana Cristina Victorino Krepischi, Berenice Bilharinho Mendonca, Ana Claudia Latronico, Vinicius Nahime Bri |
| Association of obesity and menarche SNPs and interaction with environmental factors on precocious puberty. Pediatric research 2024 4 . Peng Xue, Jianfei Lin, Jingyi Tang, Yao Chen, Tingting Yu, Chang Chen, Huijun Kong, Cuilan Lin, Shijian L |
| Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods. Orphanet journal of rare diseases 2024 4 19 (1): 159. Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Ya |
- Page last reviewed:Feb 1, 2024
- Content source: