BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

184 related articles for article (PubMed ID: 28943513)

  • 1. Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation.
    Evliyaoğlu O; Ercan O; Ataoğlu E; Zübarioğlu Ü; Özcabı B; Dağdeviren A; Erdoğan H; De Franco E; Ellard S
    J Clin Res Pediatr Endocrinol; 2018 Jun; 10(2):168-174. PubMed ID: 28943513
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.
    Demirbilek H; Cayir A; Flanagan SE; Yıldırım R; Kor Y; Gurbuz F; Haliloğlu B; Yıldız M; Baran RT; Akbas ED; Demiral M; Ünal E; Arslan G; Vuralli D; Buyukyilmaz G; Al-Khawaga S; Saeed A; Al Maadheed M; Khalifa A; Onal H; Yuksel B; Ozbek MN; Bereket A; Hattersley AT; Hussain K; De Franco E
    J Clin Endocrinol Metab; 2020 Dec; 105(12):e4351-9. PubMed ID: 32893856
    [TBL] [Abstract][Full Text] [Related]  

  • 3. DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea.
    Cho JH; Kang E; Lee BH; Kim GH; Choi JH; Yoo HW
    J Korean Med Sci; 2017 Jun; 32(6):1042-1045. PubMed ID: 28480665
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular and clinical features of K
    Hashimoto Y; Dateki S; Hirose M; Satomura K; Sawada H; Mizuno H; Sugihara S; Maruyama K; Urakami T; Sugawara H; Shirai K; Yorifuji T
    Pediatr Diabetes; 2017 Nov; 18(7):532-539. PubMed ID: 27681997
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene.
    Gabbay M; Ellard S; De Franco E; Moisés RS
    J Clin Res Pediatr Endocrinol; 2017 Sep; 9(3):274-277. PubMed ID: 28663161
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience.
    Abali ZY; De Franco E; Karakilic Ozturan E; Poyrazoglu S; Bundak R; Bas F; Flanagan SE; Darendeliler F
    Horm Res Paediatr; 2020; 93(7-8):423-432. PubMed ID: 33498041
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.
    Deeb A; Habeb A; Kaplan W; Attia S; Hadi S; Osman A; Al-Jubeh J; Flanagan S; DeFranco E; Ellard S
    Am J Med Genet A; 2016 Mar; 170(3):602-9. PubMed ID: 26463504
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.
    Demirbilek H; Arya VB; Ozbek MN; Houghton JA; Baran RT; Akar M; Tekes S; Tuzun H; Mackay DJ; Flanagan SE; Hattersley AT; Ellard S; Hussain K
    Eur J Endocrinol; 2015 Jun; 172(6):697-705. PubMed ID: 25755231
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.
    Shimomura K; Hörster F; de Wet H; Flanagan SE; Ellard S; Hattersley AT; Wolf NI; Ashcroft F; Ebinger F
    Neurology; 2007 Sep; 69(13):1342-9. PubMed ID: 17652641
    [TBL] [Abstract][Full Text] [Related]  

  • 10. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
    Gloyn AL; Diatloff-Zito C; Edghill EL; Bellanné-Chantelot C; Nivot S; Coutant R; Ellard S; Hattersley AT; Robert JJ
    Eur J Hum Genet; 2006 Jul; 14(7):824-30. PubMed ID: 16670688
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression.
    Lin YW; Li A; Grasso V; Battaglia D; Crinò A; Colombo C; Barbetti F; Nichols CG
    PLoS One; 2013; 8(5):e63758. PubMed ID: 23667671
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Sulphonylurea treatment does not improve psychomotor development in children with KCNJ11 mutations causing permanent neonatal diabetes mellitus accompanied by developmental delay and epilepsy (DEND syndrome).
    Sumnik Z; Kolouskova S; Wales JK; Komarek V; Cinek O
    Diabet Med; 2007 Oct; 24(10):1176-8. PubMed ID: 17888143
    [No Abstract]   [Full Text] [Related]  

  • 13. Visuomotor performance in KCNJ11-related neonatal diabetes is impaired in children with DEND-associated mutations and may be improved by early treatment with sulfonylureas.
    Shah RP; Spruyt K; Kragie BC; Greeley SA; Msall ME
    Diabetes Care; 2012 Oct; 35(10):2086-8. PubMed ID: 22855734
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].
    Busiah K; Drunat S; Vaivre-Douret L; Bonnefond A; Simon A; Flechtner I; Gérard B; Pouvreau N; Elie C; Nimri R; De Vries L; Tubiana-Rufi N; Metz C; Bertrand AM; Nivot-Adamiak S; de Kerdanet M; Stuckens C; Jennane F; Souchon PF; Le Tallec C; Désirée C; Pereira S; Dechaume A; Robert JJ; Phillip M; Scharfmann R; Czernichow P; Froguel P; Vaxillaire M; Polak M; Cavé H;
    Lancet Diabetes Endocrinol; 2013 Nov; 1(3):199-207. PubMed ID: 24622368
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.
    Slingerland AS; Nuboer R; Hadders-Algra M; Hattersley AT; Bruining GJ
    Diabetologia; 2006 Nov; 49(11):2559-63. PubMed ID: 17047922
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas.
    Dupont J; Pereira C; Medeira A; Duarte R; Ellard S; Sampaio L
    J Pediatr Endocrinol Metab; 2012; 25(3-4):367-70. PubMed ID: 22768671
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene.
    Doneray H; Houghton J; Tekgunduz KS; Balkir F; Caner I
    J Pediatr Endocrinol Metab; 2014 Mar; 27(3-4):367-71. PubMed ID: 24150202
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene.
    Della Manna T; Battistim C; Radonsky V; Savoldelli RD; Damiani D; Kok F; Pearson ER; Ellard S; Hattersley AT; Reis AF
    Arq Bras Endocrinol Metabol; 2008 Nov; 52(8):1350-5. PubMed ID: 19169493
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K
    Ngoc CTB; Dien TM; De Franco E; Ellard S; Houghton JAL; Lan NN; Thao BP; Khanh NN; Flanagan SE; Craig ME; Dung VC
    Front Endocrinol (Lausanne); 2021; 12():727083. PubMed ID: 34566892
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
    Flanagan SE; Edghill EL; Gloyn AL; Ellard S; Hattersley AT
    Diabetologia; 2006 Jun; 49(6):1190-7. PubMed ID: 16609879
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.