Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Syndrome and ABCC8[original query] |
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Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels. European journal of human genetics : EJHG 2007 Jun 15 (6): 679-84. Barber Thomas M, Bennett Amanda J, Gloyn Anna L, Groves Christopher J, Sovio Ulla, Ruokonen Aimo, Martikainen Hannu, Pouta Anneli, Taponen Saara, Weedon Michael N, Hartikainen Anna-Liisa, Wass John A H, Järvelin Marjo-Riitta, Zeggini Eleftheria, Franks Stephen, McCarthy Mark |
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. Molecular genetics and metabolism 2014 Dec 113 (4): 315-20. Alkorta-Aranburu G, Carmody D, Cheng Y W, Nelakuditi V, Ma L, Dickens Jazzmyne T, Das S, Greeley S A W, del Gaudio |
Associations between genetic variants and the severity of metabolic syndrome in subjects with type 2 diabetes. Genetics and molecular research : GMR 2015 14 (1): 2518-26. Chen Y L, Pei D, Hung Y J, Lee C H, Hsiao F C, Wu C Z, Lin J D, Hsu C H, Chang J B, Hsieh C |
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. BMC medicine 2017 12 15 (1): 213. Bansal Vikas, Gassenhuber Johann, Phillips Tierney, Oliveira Glenn, Harbaugh Rebecca, Villarasa Nikki, Topol Eric J, Seufferlein Thomas, Boehm Bernhard |
Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience. Hormone research in paediatrics 2021 1 93 (7-8): 423-432. Abali Zehra Yavas, De Franco Elisa, Karakilic Ozturan Esin, Poyrazoglu Sukran, Bundak Ruveyde, Bas Firdevs, Flanagan Sarah E, Darendeliler Fey |
Variants in genes encoding the SUR1-TRPM4 non-selective cation channel and sudden infant death syndrome (SIDS): potentially increased risk for cerebral edema. International journal of legal medicine 2022 4 136 (4): 1113-1120. Qu Dong, Schürmann Peter, Rothämel Thomas, Dörk Thilo, Klintschar Micha |
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 |
High frequency of recessive WFS1 mutations among Indian children with islet antibody-negative type 1 diabetes. The Journal of clinical endocrinology and metabolism 2023 11 . Jayakrishnan C Menon, Pratibha Singh, Archana Archana, Preeti Singh, Medha Mittal, Uma Kanga, Kausik Mandal, Anju Seth, Vijayalakshmi Bhatia, Preeti Dabadghao, Siddhnath Sudhanshu, Atul Garg, Ruchira Vishwakarma, Aditya Narayan Sarangi, Shivendra Verma, Surya Kumar Singh, Eesh Bhat |
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