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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 4, 2023. (Total: 221739Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Congenital Hyperinsulinism and HNF4A[original query]
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
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
Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT. Evidence of persistent hyperinsulinism into early adulthood.
Acta diabetologica 2016 Aug .
Bacon S, Kyithar M P, Condron E M, Vizzard N, Burke M, Byrne M
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
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
Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.
Journal of diabetes investigation 2022 12 .
Yorifuji Tohru, Watanabe Yoh, Kitayama Kana, Yamada Yuki, Higuchi Shinji, Mori Jun, Kato Masaru, Takahashi Toru, Okuda Tokuko, Aoyama Taka
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