These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

238 related articles for article (PubMed ID: 11810292)

  • 21. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
    Leen WG; Klepper J; Verbeek MM; Leferink M; Hofste T; van Engelen BG; Wevers RA; Arthur T; Bahi-Buisson N; Ballhausen D; Bekhof J; van Bogaert P; Carrilho I; Chabrol B; Champion MP; Coldwell J; Clayton P; Donner E; Evangeliou A; Ebinger F; Farrell K; Forsyth RJ; de Goede CG; Gross S; Grunewald S; Holthausen H; Jayawant S; Lachlan K; Laugel V; Leppig K; Lim MJ; Mancini G; Marina AD; Martorell L; McMenamin J; Meuwissen ME; Mundy H; Nilsson NO; Panzer A; Poll-The BT; Rauscher C; Rouselle CM; Sandvig I; Scheffner T; Sheridan E; Simpson N; Sykora P; Tomlinson R; Trounce J; Webb D; Weschke B; Scheffer H; Willemsen MA
    Brain; 2010 Mar; 133(Pt 3):655-70. PubMed ID: 20129935
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature.
    Santer R; Schneppenheim R; Suter D; Schaub J; Steinmann B
    Eur J Pediatr; 1998 Oct; 157(10):783-97. PubMed ID: 9809815
    [TBL] [Abstract][Full Text] [Related]  

  • 23. An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation.
    Dayal D; Dekate P; Sharda S; Das A; Attri S
    J Pediatr Genet; 2013 Jun; 2(2):109-12. PubMed ID: 27625848
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Understanding the Role of GLUT2 in Dysglycemia Associated with Fanconi-Bickel Syndrome.
    Sharari S; Kabeer B; Mohammed I; Haris B; Pavlovski I; Hawari I; Bhat AA; Toufiq M; Tomei S; Mathew R; Syed N; Nisar S; Maacha S; Grivel JC; Chaussabel D; Ericsson J; Hussain K
    Biomedicines; 2022 Aug; 10(9):. PubMed ID: 36140215
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2).
    Burgstaller J; Url A; Pausch H; Schwarzenbacher H; Egerbacher M; Wittek T
    Berl Munch Tierarztl Wochenschr; 2016; 129(3-4):132-7. PubMed ID: 27169150
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.
    Enogieru OJ; Ung PMU; Yee SW; Schlessinger A; Giacomini KM
    Hum Mutat; 2019 Jul; 40(7):983-995. PubMed ID: 30950137
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans.
    Santer R; Hillebrand G; Steinmann B; Schaub J
    Gastroenterology; 2003 Jan; 124(1):34-9. PubMed ID: 12512027
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK
    Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis.
    Taştemel-Öztürk T; Bilginer-Gürbüz B; Tekşam Ö; Sivri S
    Turk J Pediatr; 2017; 59(6):693-695. PubMed ID: 30035403
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan.
    Ito Y; Gertsen E; Oguni H; Nakayama T; Matsuo M; Funatsuka M; Voit T; Klepper J; Osawa M
    Brain Dev; 2005 Jun; 27(4):311-7. PubMed ID: 15862198
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.
    Duno M; Skovby F; Schwartz M
    Ann Hum Genet; 2007 Nov; 71(Pt 6):713-8. PubMed ID: 17561922
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Fanconi-Bickel syndrome - mutation in SLC2A2 gene.
    Kehar M; Bijarnia S; Ellard S; Houghton J; Saxena R; Verma IC; Wadhwa N
    Indian J Pediatr; 2014 Nov; 81(11):1237-9. PubMed ID: 24912437
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
    Burwinkel B; Sanjad SA; Al-Sabban E; Al-Abbad A; Kilimann MW
    Hum Genet; 1999 Sep; 105(3):240-3. PubMed ID: 10987651
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Renal glucosuria due to SGLT2 mutations.
    Kleta R; Stuart C; Gill FA; Gahl WA
    Mol Genet Metab; 2004 May; 82(1):56-8. PubMed ID: 15110322
    [TBL] [Abstract][Full Text] [Related]  

  • 35. An induced pluripotent stem cell line derived from a patient with neonatal diabetes and Fanconi-Bickel syndrome caused by a homozygous mutation in the SLC2A2 gene.
    Elsayed AK; Al-Khawaga S; Hussain K; Abdelalim EM
    Stem Cell Res; 2021 Jul; 54():102433. PubMed ID: 34171785
    [TBL] [Abstract][Full Text] [Related]  

  • 36. GLUT2 mutations, translocation, and receptor function in diet sugar managing.
    Leturque A; Brot-Laroche E; Le Gall M
    Am J Physiol Endocrinol Metab; 2009 May; 296(5):E985-92. PubMed ID: 19223655
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
    Wang D; Pascual JM; Yang H; Engelstad K; Jhung S; Sun RP; De Vivo DC
    Ann Neurol; 2005 Jan; 57(1):111-8. PubMed ID: 15622525
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Understanding the Mechanism of Dysglycemia in a Fanconi-Bickel Syndrome Patient.
    Sharari S; Aouida M; Mohammed I; Haris B; Bhat AA; Hawari I; Nisar S; Pavlovski I; Biswas KH; Syed N; Maacha S; Grivel JC; Saifaldeen M; Ericsson J; Hussain K
    Front Endocrinol (Lausanne); 2022; 13():841788. PubMed ID: 35663312
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.
    Calado J; Sznajer Y; Metzger D; Rita A; Hogan MC; Kattamis A; Scharf M; Tasic V; Greil J; Brinkert F; Kemper MJ; Santer R
    Nephrol Dial Transplant; 2008 Dec; 23(12):3874-9. PubMed ID: 18622023
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic
    Grünert SC; Schumann A; Baronio F; Tsiakas K; Murko S; Spiekerkoetter U; Santer R
    Genes (Basel); 2021 Nov; 12(11):. PubMed ID: 34828390
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.