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| Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group. Pediatric diabetes 2022 3 23 (4): 457-461. Hewat Thomas I, Laver Thomas W, Houghton Jayne A L, Männistö Jonna M E, Alvi Sabah, Brearey Stephen P, Cody Declan, Dastamani Antonia, De Los Santos La Torre Miguel, Murphy Nuala, Rami-Merhar Birgit, Wefers Birgit, Huopio Hanna, Banerjee Indraneel, Johnson Matthew B, Flanagan Sarah |
| 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 |
| Clinical characteristics, outcome, and predictors of neurological sequelae of persistent congenital hyperinsulinism: A single tertiary center experience. Pediatric diabetes 2021 Feb . Laimon Wafaa, Aboelenin Hadil Mohamed, El Tantawi Noha |
| Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11. European journal of endocrinology 2021 10 185 (6): 813-818. Hewat Thomas I, Yau Daphne, Jerome Joseph C S, Laver Thomas W, Houghton Jayne A L, Shields Beverley M, Flanagan Sarah E, Patel Kashyap |
| Focal congenital hyperinsulinism resulting from biallelic loss of function of KCNJ11 gene. BMJ case reports 2021 3 14 (3): . Garegrat Reema, Patnaik Suprabha, Suryawanshi Pradeep, Datar Chaitan |
| Genotyping of ABCC8, KCNJ11, and HADH in Iranian Infants with Congenital Hyperinsulinism. Case reports in endocrinology 2021 5 2021 8826174. Hashemian Somayyeh, Esfehani Reza Jafarzadeh, Karimdadi Siroos, Ghaemi Nosrat, Eshraghi Peyman, Gonabadi Najmeh Malekzadeh, Sahebkar Amirhossein, Vakili Rahim, Abbaszadegan Mohammad Re |
| Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism. Journal of clinical research in pediatric endocrinology 2021 12 14 (1): 87-95. Razzaghy-Azar Maryam, Saeedi Saeedeh, Dayani Sepideh Borhan, Enayati Samaneh, Abbasi Farzaneh, Hashemian Somayyeh, Eshraghi Peyman, Karimdadi Siroos, Tajdini Parisa, Vakili Rahim, Amoli Mahsa M., Yaghootkar Hani |
| 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 |
| Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning. European journal of pediatrics 2019 6 178 (8): 1161-1169. Ni Jinwen, Ge Jingjie, Zhang Miaoying, Hussain Khalid, Guan Yihui, Cheng Ruoqian, Xi Li, Zheng Zhangqian, Ren Shuhua, Luo Feiho |
| Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study. Frontiers in endocrinology 2017 7 8 156. Helleskov Annett, Melikyan Maria, Globa Evgenia, Shcherderkina Inna, Poertner Fani, Larsen Anna-Maria, Filipsen Karen, Brusgaard Klaus, Christiansen Charlotte Dahl, Hansen Lars Kjaersgaard, Christesen Henrik |
| 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 |
| 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 |
| 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 |
| Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases. Pediatric diabetes 2015 Feb . Gong Chunxiu, Huang Shuyue, Su Chang, Qi Zhan, Liu Fang, Wu Di, Cao Bingyan, Gu Yi, Li Wenjin, Liang Xuejun, Liu M |
| Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism. Hormone research in pædiatrics 2015 83 (3): 204-10. Lee Beom Hee, Lee Jin, Kim Jae-Min, Kang Minji, Kim Gu-Hwan, Choi Jin-Ho, Kim Jihun, Kim Chong Jai, Kim Dae-Yeon, Kim Seong-Chul, Yoo Han-Wo |
| Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. European journal of endocrinology / European Federation of Endocrine Societies 2014 Dec 171 (6): 685-95. Arya Ved Bhushan, Guemes Maria, Nessa Azizun, Alam Syeda, Shah Pratik, Gilbert Clare, Senniappan Senthil, Flanagan Sarah E, Ellard Sian, Hussain Khal |
| 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 |
| Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations. European journal of endocrinology / European Federation of Endocrine Societies 2014 Jun 170 (6): 885-92. Demirbilek Huseyin, Arya Ved Bhushan, Ozbek Mehmet Nuri, Akinci Aysehan, Dogan Murat, Demirel Fatma, Houghton Jayne, Kaba Sultan, Guzel Fatma, Baran Riza Taner, Unal Sevim, Tekkes Selahattin, Flanagan Sarah E, Ellard Sian, Hussain Khal |
| 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 |
| Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. American journal of human genetics 2013 Jan 92 (1): 131-6. Flanagan Sarah E, Xie Weijia, Caswell Richard, Damhuis Annet, Vianey-Saban Christine, Akcay Teoman, Darendeliler Feyza, Bas Firdevs, Guven Ayla, Siklar Zeynep, Ocal Gonul, Berberoglu Merih, Murphy Nuala, O'Sullivan Maureen, Green Andrew, Clayton Peter E, Banerjee Indraneel, Clayton Peter T, Hussain Khalid, Weedon Michael N, Ellard Si |
| 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 |
| ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia. Genetics in medicine : official journal of the American College of Medical Genetics 2011 Oct 13 (10): 891-4. Glaser Benjamin, Blech Ilana, Krakinovsky Yocheved, Ekstein Josef, Gillis David, Mazor-Aronovitch Kineret, Landau Heddy, Abeliovich Dvor |
| 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 |
| KATP channel mutations in congenital hyperinsulinism. Seminars in pediatric surgery 2010 12 20 (1): 18-22. Saint-Martin Cécile, Arnoux Jean-Baptiste, de Lonlay Pascale, Bellanné-Chantelot Christi |
| The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. Clinical genetics 2009 May 75 (5): 440-8. Sandal T, Laborie L B, Brusgaard K, Eide S A, Christesen H B T, Søvik O, Njølstad P R, Molven |
| Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. European journal of endocrinology / European Federation of Endocrine Societies 2008 Jul 159 (1): 27-34. Christesen Henrik B T, Tribble Nicholas D, Molven Anders, Siddiqui Juveria, Sandal Tone, Brusgaard Klaus, Ellard Sian, Njølstad Pål R, Alm Jan, Brock Jacobsen Bendt, Hussain Khalid, Gloyn Anna |
| Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). Human mutation 2006 1 27 (2): 214. Fernández-Marmiesse Ana, Salas Antonio, Vega Ana, Fernández-Lorenzo José Ramón, Barreiro Jesús, Carracedo Ang |
| Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 0 10 (1): 25-34. Greer Ristan M, Shah Janaki, Jeske Yvette W, Brown David, Walker Rosslyn M, Cowley David, Bowling Francis G, Liaskou Daphne, Harris Mark, Thomsett Michael J, Choong Catherine, Bell John R, Jack Michelle M, Cotterill Andrew |
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- Page last updated:Mar 22, 2023
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