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Results: 1 to 20 of 34

Select item 232956721.

Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop.

Iglesias-Platas I, Court F, Camprubi C, Sparago A, Guillaumet-Adkins A, Martin-Trujillo A, Riccio A, Moore GE, Monk D.

Nucleic Acids Res. 2013 Feb 1;41(4):2171-9. doi: 10.1093/nar/gks1355. Epub 2013 Jan 7.

PMID:: 23295672; [PubMed - indexed for MEDLINE]

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Select item 213524282.

KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.

Ioannou YS, Ellard S, Hattersley A, Skordis N.

Pediatr Diabetes. 2011 Mar;12(2):133-7. doi: 10.1111/j.1399-5448.2010.00743.x.

PMID:: 21352428; [PubMed - indexed for MEDLINE]

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Select item 211318073.

A case of transient neonatal diabetes mellitus.

Hewes HA, Dudley NC, Adelgais KM.

Pediatr Emerg Care. 2010 Dec;26(12):930-1. doi: 10.1097/PEC.0b013e3181fe91a4.

PMID:: 21131807; [PubMed - indexed for MEDLINE]

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Select item 209225694.

6q24 transient neonatal diabetes.

Temple IK, Shield JP.

Rev Endocr Metab Disord. 2010 Sep;11(3):199-204. doi: 10.1007/s11154-010-9150-4. Review.

PMID:: 20922569; [PubMed - indexed for MEDLINE]

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Select item 208036565.

Transient neonatal diabetes mellitus type 1.

Mackay DJ, Temple IK.

Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):335-42. doi: 10.1002/ajmg.c.30272. Review.

PMID:: 20803656; [PubMed - indexed for MEDLINE]

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Select item 207383306.

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. doi: 10.1111/j.1399-0004.2010.01514.x. Epub 2010 Jul 22.

PMID:: 20738330; [PubMed - indexed for MEDLINE]

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Select item 206688337.

Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes.

Docherty LE, Poole RL, Mattocks CJ, Lehmann A, Temple IK, Mackay DJ.

Diabetologia. 2010 Nov;53(11):2347-51. doi: 10.1007/s00125-010-1853-2. Epub 2010 Jul 30.

PMID:: 20668833; [PubMed - indexed for MEDLINE]

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Select item 204121108.

Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia.

Suzuki S, Fujisawa D, Hashimoto K, Asano T, Maimaiti M, Matsuo K, Tanahashi Y, Mukai T, Fujieda K.

Clin Genet. 2010 Dec;78(6):580-4. doi: 10.1111/j.1399-0004.2010.01433.x.

PMID:: 20412110; [PubMed - indexed for MEDLINE]

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Select item 200920279.

Transient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1.

Batra CM, Gupta N, Atwal G, Gupta V.

Indian J Pediatr. 2009 Nov;76(11):1169-72.

PMID:: 20092027; [PubMed - indexed for MEDLINE]

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Select item 1995273710.

Update in neonatal diabetes.

Greeley SA, Tucker SE, Worrell HI, Skowron KB, Bell GI, Philipson LH.

Curr Opin Endocrinol Diabetes Obes. 2010 Feb;17(1):13-9. doi: 10.1097/MED.0b013e328334f158. Review.

PMID:: 19952737; [PubMed - indexed for MEDLINE]

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Select item 1952171911.

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins.

Laborie LB, Mackay DJ, Temple IK, Molven A, Søvik O, Njølstad PR.

Eur J Pediatr. 2010 Feb;169(2):207-13. doi: 10.1007/s00431-009-1008-y. Epub 2009 Jun 13.

PMID:: 19521719; [PubMed - indexed for MEDLINE]

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Select item 1949696412.

Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register.

Wiedemann B, Schober E, Waldhoer T, Koehle J, Flanagan SE, Mackay DJ, Steichen E, Meraner D, Zimmerhackl LB, Hattersley AT, Ellard S, Hofer S.

Pediatr Diabetes. 2010 Feb;11(1):18-23. doi: 10.1111/j.1399-5448.2009.00530.x. Epub 2009 Jun 3.

PMID:: 19496964; [PubMed - indexed for MEDLINE]

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Select item 1866236213.

Diagnosis and treatment of neonatal diabetes: a United States experience.

Støy J, Greeley SA, Paz VP, Ye H, Pastore AN, Skowron KB, Lipton RB, Cogen FR, Bell GI, Philipson LH; United States Neonatal Diabetes Working Group.

Pediatr Diabetes. 2008 Oct;9(5):450-9. doi: 10.1111/j.1399-5448.2008.00433.x. Epub 2008 Jul 25.

PMID:: 18662362; [PubMed - indexed for MEDLINE]

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Select item 1855634014.

Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.

Staník J, Lethby M, Flanagan SE, Gasperíková D, Milosovicová B, Lever M, Bullman H, Zubcevic L, Hattersley AT, Ellard S, Ashcroft FM, Klimes I.

Diabetes Care. 2008 Sep;31(9):1736-7. doi: 10.2337/dc08-0549. Epub 2008 Jun 12.

PMID:: 18556340; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 1834109315.

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.

PMID:: 18341093; [PubMed - indexed for MEDLINE]

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Select item 1819718916.

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

Boonen SE, Pörksen S, Mackay DJ, Oestergaard E, Olsen B, Brondum-Nielsen K, Temple IK, Hahnemann JM.

Eur J Hum Genet. 2008 Apr;16(4):453-61. doi: 10.1038/sj.ejhg.5201993. Epub 2008 Jan 16.

PMID:: 18197189; [PubMed - indexed for MEDLINE]

Free Article

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Select item 1798682917.

Diagnosis of neonatal and infancy-onset diabetes.

Barbetti F.

Endocr Dev. 2007;11:83-93. Review.

PMID:: 17986829; [PubMed - indexed for MEDLINE]

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Select item 1792377418.

Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome.

Temple IK.

Endocr Dev. 2007;12:113-23. Review.

PMID:: 17923774; [PubMed - indexed for MEDLINE]

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Select item 1763594319.

Molecular basis of neonatal diabetes in Japanese patients.

Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K.

J Clin Endocrinol Metab. 2007 Oct;92(10):3979-85. Epub 2007 Jul 17. Erratum in: J Clin Endocrinol Metab. 2008 Jan;93(1):153.

PMID:: 17635943; [PubMed - indexed for MEDLINE]

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Select item 1749042220.

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.

Rica I, Luzuriaga C, Pérez de Nanclares G, Estalella I, Aragonés A, Barrio R, Bilbao JR, Carlés C, Fernández C, Fernández JM, Fernández-Rebollo E, Gastaldo E, Giralt P, Gomez Vida JM, Gutiérrez A, López Siguero JP, Martínez-Aedo MJ, Muñoz M, Prieto J, Rodrigo J, Vargas F, Castano L.

Diabet Med. 2007 Jul;24(7):707-13. Epub 2007 May 8.

PMID:: 17490422; [PubMed - indexed for MEDLINE]

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5 free full-text articles in PubMed Central

Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop. [Nucleic Acids Res. 2013]
Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop.
Iglesias-Platas I, Court F, Camprubi C, Sparago A, Guillaumet-Adkins A, Martin-Trujillo A, Riccio A, Moore GE, Monk D. Nucleic Acids Res. 2013 Feb 1; 41(4):2171-9. Epub 2013 Jan 7.
Diagnosis and treatment of neonatal diabetes: a United States experience. [Pediatr Diabetes. 2008]
Diagnosis and treatment of neonatal diabetes: a United States experience.
Støy J, Greeley SA, Paz VP, Ye H, Pastore AN, Skowron KB, Lipton RB, Cogen FR, Bell GI, Philipson LH, et al. Pediatr Diabetes. 2008 Oct; 9(5):450-9. Epub 2008 Jul 25.
Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes. [Diabetes Care. 2008]
Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.
Staník J, Lethby M, Flanagan SE, Gasperíková D, Milosovicová B, Lever M, Bullman H, Zubcevic L, Hattersley AT, Ellard S, et al. Diabetes Care. 2008 Sep; 31(9):1736-7. Epub 2008 Jun 12.

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