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Items: 10

1.

Role of DNA methylation in imprinting disorders: an updated review.

Elhamamsy AR.

J Assist Reprod Genet. 2017 May;34(5):549-562. doi: 10.1007/s10815-017-0895-5. Epub 2017 Mar 9. Review.

PMID:
28281142
2.

Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

Srebniak MI, van Zutven LJ, Petit F, Bouquillon S, van Heel IP, Knapen MF, Cornette JM, Kremer A, Van Opstal D, Diderich KE.

Mol Cytogenet. 2016 Jun 2;9:43. doi: 10.1186/s13039-016-0253-9. eCollection 2016.

3.

Degree of methylation of ZAC1 (PLAGL1) is associated with prenatal and post-natal growth in healthy infants of the EDEN mother child cohort.

Azzi S, Sas TC, Koudou Y, Le Bouc Y, Souberbielle JC, Dargent-Molina P, Netchine I, Charles MA.

Epigenetics. 2014 Mar;9(3):338-45. doi: 10.4161/epi.27387. Epub 2013 Dec 6.

4.

Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene.

Boyraz M, Ulucan K, Taşkın N, Akçay T, Flanagan SE, Mackay DJ.

J Clin Res Pediatr Endocrinol. 2013;5(2):125-8. doi: 10.4274/Jcrpe.928.

5.

Regulation of cardiomyocyte Glut4 expression by ZAC1.

Czubryt MP, Lamoureux L, Ramjiawan A, Abrenica B, Jangamreddy J, Swan K.

J Biol Chem. 2010 May 28;285(22):16942-50. doi: 10.1074/jbc.M109.097246. Epub 2010 Apr 2.

6.

A soluble class II cytokine receptor, IL-22RA2, is a naturally occurring IL-22 antagonist.

Xu W, Presnell SR, Parrish-Novak J, Kindsvogel W, Jaspers S, Chen Z, Dillon SR, Gao Z, Gilbert T, Madden K, Schlutsmeyer S, Yao L, Whitmore TE, Chandrasekher Y, Grant FJ, Maurer M, Jelinek L, Storey H, Brender T, Hammond A, Topouzis S, Clegg CH, Foster DC.

Proc Natl Acad Sci U S A. 2001 Aug 14;98(17):9511-6. Epub 2001 Jul 31.

7.

American College of Medical Genetics statement of diagnostic testing for uniparental disomy.

Shaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB.

Genet Med. 2001 May-Jun;3(3):206-11. No abstract available.

8.

Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.

Das S, Lese CM, Song M, Jensen JL, Wells LA, Barnoski BL, Roseberry JA, Camacho JM, Ledbetter DH, Schnur RE.

Am J Hum Genet. 2000 Dec;67(6):1586-91. Epub 2000 Oct 18.

9.

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.

Kotzot D, Martinez MJ, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzanowska K, Dutly F, Gutkowska A, Karaüzüm SB, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A.

J Med Genet. 2000 Apr;37(4):281-6.

10.

Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q.

Gardner RJ, Mungall AJ, Dunham I, Barber JC, Shield JP, Temple IK, Robinson DO.

J Med Genet. 1999 Mar;36(3):192-6.

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