Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: GLUD1[original query] |
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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. European journal of endocrinology / European Federation of Endocrine Societies 2010 May 162 (5): 987-92. Flanagan S E, Kapoor R R, Mali G, Cody D, Murphy N, Schwahn B, Siahanidou T, Banerjee I, Akcay T, Rubio-Cabezas O, Shield J P H, Hussain K, Ellard |
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. The Journal of clinical endocrinology and metabolism 2011 1 96 (3): E498-502. Flanagan Sarah E, Patch Ann-Marie, Locke Jonathan M, Akcay Teoman, Simsek Enver, Alaei Mohammadreza, Yekta Zeinab, Desai Meena, Kapoor Ritika R, Hussain Khalid, Ellard Si |
Deregulation of glutamate dehydrogenase in human neurologic disorders. Journal of neuroscience research 2013 Aug 91 (8): 1007-17. Plaitakis Andreas, Zaganas Ioannis, Spanaki Cleant |
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. European journal of endocrinology / European Federation of Endocrine Societies 2013 Jan . Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K |
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. The Journal of clinical endocrinology and metabolism 2012 Dec . Snider KE, Becker S, Boyajian L, Shyng SL, Macmullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A |
Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia. Annals of human genetics 2014 Sep 78 (5): 311-9. Jahnavi Suresh, Poovazhagi Varadarajan, Kanthimathi Sekar, Balamurugan Kandasamy, Bodhini Dhanasekaran, Yadav Jaivinder, Jain Vandana, Khadgawat Rajesh, Sikdar Mahuya, Bhavatharini Ayurchelvan, Das Ashok Kumar, Kaur Tanvir, Mohan Viswanathan, Radha Venkates |
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism. The Journal of clinical endocrinology and metabolism 2015 Oct jc20152763. Rozenkova Klara, Malikova Jana, Nessa Azizun, Dusatkova Lenka, Bjørkhaug Lise, Obermannova Barbora, Dusatkova Petra, Kytnarova Jitka, Aukrust Ingvild, Najmi Laeya, Rypackova Blanka, Sumnik Zdenek, Lebl Jan, Njølstad Pål R, Hussain Khalid, Pruhova Stepan |
Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients. Molecular genetics & genomic medicine 2015 Nov 3 (6): 526-36. Fan Zi-Chuan, Ni Jin-Wen, Yang Lin, Hu Li-Yuan, Ma Si-Min, Mei Mei, Sun Bi-Jun, Wang Hui-Jun, Zhou Wen-H |
Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients. Journal of clinical research in pediatric endocrinology 2015 Dec . Sarajlija Adrijan, Milenkovic Tatjana, Djordjevic Maja, Mitrovic Katarina, Todorovic Sladjana, Kecman Bozica, Hussain Khal |
Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism. Journal of clinical research in pediatric endocrinology 2015 Dec . Güven Ayla, Cebeci Ay?e Nurcan, Ellard Sian, Flanagan Sarah |
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia. Endocrine connections 2018 11 7 (12): 1251-1261. Xu Zi-Di, Zhang Wei, Liu Min, Wang Huan-Min, Hui Pei-Pei, Liang Xue-Jun, Yan Jie, Wu Yu-Jun, Sang Yan-Mei, Zhu Cheng, Ni Gui-Ch |
Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients. Journal of diabetes research 2018 10 2018 2802540. Su Chang, Liang Xue-Jun, Li Wen-Jing, Wu Di, Liu Min, Cao Bing-Yan, Chen Jia-Jia, Qin Miao, Meng Xi, Gong Chun-X |
Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism. The Journal of clinical endocrinology and metabolism 2020 3 105 (4): . Männistö Jonna M E, Maria Maleeha, Raivo Joose, Kuulasmaa Teemu, Otonkoski Timo, Huopio Hanna, Laakso Mark |
[Analysis of genetic variants in four children with congenital hyperinsulinemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 7 38 (7): 635-638. Lin Li, Shen Fei, Yang Qi, Yi Shang, Qin Zailong, Zhang Qiang, Luo Jingsi, Gao Xiaoyan, He She |
Glutaminolysis dynamics during astrocytoma progression correlates with tumor aggressiveness. Cancer & metabolism 2021 4 9 (1): 18. Moreira Franco Yollanda E, Alves Maria Jose, Uno Miyuki, Moretti Isabele Fattori, Trombetta-Lima Marina, de Siqueira Santos Suzana, Dos Santos Ancely Ferreira, Arini Gabriel Santos, Baptista Mauricio S, Lerario Antonio Marcondes, Oba-Shinjo Sueli Mieko, Marie Suely Kazue Nagahas |
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- Page last updated:May 06, 2024
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