BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

202 related articles for article (PubMed ID: 23150280)

  • 1. Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.
    Boonen SE; Mackay DJ; Hahnemann JM; Docherty L; Grønskov K; Lehmann A; Larsen LG; Haemers AP; Kockaerts Y; Dooms L; Vu DC; Ngoc CT; Nguyen PB; Kordonouri O; Sundberg F; Dayanikli P; Puthi V; Acerini C; Massoud AF; Tümer Z; Temple IK
    Diabetes Care; 2013 Mar; 36(3):505-12. PubMed ID: 23150280
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.
    Bak M; Boonen SE; Dahl C; Hahnemann JM; Mackay DJ; Tümer Z; Grønskov K; Temple IK; Guldberg P; Tommerup N
    BMC Med Genet; 2016 Apr; 17():29. PubMed ID: 27075368
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature.
    Touati A; Errea-Dorronsoro J; Nouri S; Halleb Y; Pereda A; Mahdhaoui N; Ghith A; Saad A; Perez de Nanclares G; H'mida Ben Brahim D
    Acta Diabetol; 2019 Mar; 56(3):301-307. PubMed ID: 30315371
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Transient neonatal diabetes mellitus type 1.
    Mackay DJ; Temple IK
    Am J Med Genet C Semin Med Genet; 2010 Aug; 154C(3):335-42. PubMed ID: 20803656
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
    Mackay DJ; Callaway JL; Marks SM; White HE; Acerini CL; Boonen SE; Dayanikli P; Firth HV; Goodship JA; Haemers AP; Hahnemann JM; Kordonouri O; Masoud AF; Oestergaard E; Storr J; Ellard S; Hattersley AT; Robinson DO; Temple IK
    Nat Genet; 2008 Aug; 40(8):949-51. PubMed ID: 18622393
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.
    Docherty LE; Kabwama S; Lehmann A; Hawke E; Harrison L; Flanagan SE; Ellard S; Hattersley AT; Shield JP; Ennis S; Mackay DJ; Temple IK
    Diabetologia; 2013 Apr; 56(4):758-62. PubMed ID: 23385738
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.
    Mackay DJ; Boonen SE; Clayton-Smith J; Goodship J; Hahnemann JM; Kant SG; Njølstad PR; Robin NH; Robinson DO; Siebert R; Shield JP; White HE; Temple IK
    Hum Genet; 2006 Sep; 120(2):262-9. PubMed ID: 16816970
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus.
    Mackay DJ; Hahnemann JM; Boonen SE; Poerksen S; Bunyan DJ; White HE; Durston VJ; Thomas NS; Robinson DO; Shield JP; Clayton-Smith J; Temple IK
    Hum Genet; 2006 Mar; 119(1-2):179-84. PubMed ID: 16402210
    [TBL] [Abstract][Full Text] [Related]  

  • 9. No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.
    Schönherr N; Meyer E; Binder G; Wollmann HA; Eggermann T
    J Pediatr Endocrinol Metab; 2007 Dec; 20(12):1329-31. PubMed ID: 18341093
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Human and mouse ZFP57 proteins are functionally interchangeable in maintaining genomic imprinting at multiple imprinted regions in mouse ES cells.
    Takikawa S; Wang X; Ray C; Vakulenko M; Bell FT; Li X
    Epigenetics; 2013 Dec; 8(12):1268-79. PubMed ID: 24135613
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 6q24 transient neonatal diabetes.
    Temple IK; Shield JP
    Rev Endocr Metab Disord; 2010 Sep; 11(3):199-204. PubMed ID: 20922569
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region.
    Kant SG; van der Weij AM; Oostdijk W; Wit JM; Robinson DO; Temple IK; Mackay DJ
    Hum Genet; 2005 Aug; 117(4):398-401. PubMed ID: 15924231
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.
    Poole RL; Docherty LE; Al Sayegh A; Caliebe A; Turner C; Baple E; Wakeling E; Harrison L; Lehmann A; Temple IK; Mackay DJ;
    Am J Med Genet A; 2013 Sep; 161A(9):2174-82. PubMed ID: 23913548
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.
    Bliek J; Verde G; Callaway J; Maas SM; De Crescenzo A; Sparago A; Cerrato F; Russo S; Ferraiuolo S; Rinaldi MM; Fischetto R; Lalatta F; Giordano L; Ferrari P; Cubellis MV; Larizza L; Temple IK; Mannens MM; Mackay DJ; Riccio A
    Eur J Hum Genet; 2009 May; 17(5):611-9. PubMed ID: 19092779
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1.
    Baglivo I; Esposito S; De Cesare L; Sparago A; Anvar Z; Riso V; Cammisa M; Fattorusso R; Grimaldi G; Riccio A; Pedone PV
    FEBS Lett; 2013 May; 587(10):1474-81. PubMed ID: 23499433
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans.
    Sanchez-Delgado M; Riccio A; Eggermann T; Maher ER; Lapunzina P; Mackay D; Monk D
    Trends Genet; 2016 Jul; 32(7):444-455. PubMed ID: 27235113
    [TBL] [Abstract][Full Text] [Related]  

  • 17. No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.
    Boonen SE; Hahnemann JM; Mackay D; Tommerup N; Brøndum-Nielsen K; Tümer Z; Grønskov K
    Eur J Hum Genet; 2012 Jan; 20(1):119-21. PubMed ID: 21863059
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A familial disorder of altered DNA-methylation.
    Caliebe A; Richter J; Ammerpohl O; Kanber D; Beygo J; Bens S; Haake A; Jüttner E; Korn B; Mackay DJ; Martin-Subero JI; Nagel I; Sebire NJ; Seidmann L; Vater I; von Kaisenberg CS; Temple IK; Horsthemke B; Buiting K; Siebert R
    J Med Genet; 2014 Jun; 51(6):407-12. PubMed ID: 24721835
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues.
    Begemann M; Spengler S; Kanber D; Haake A; Baudis M; Leisten I; Binder G; Markus S; Rupprecht T; Segerer H; Fricke-Otto S; Mühlenberg R; Siebert R; Buiting K; Eggermann T
    Clin Genet; 2011 Jul; 80(1):83-8. PubMed ID: 20738330
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.