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Items: 1 to 20 of 47

1.

Transcriptional derepression as a cause of genetic diseases.

Gabellini D, Tupler R, Green MR.

Curr Opin Genet Dev. 2003 Jun;13(3):239-45. Review.

PMID:
12787785
2.

When enough is enough: genetic diseases associated with transcriptional derepression.

Gabellini D, Green MR, Tupler R.

Curr Opin Genet Dev. 2004 Jun;14(3):301-7. Review.

PMID:
15172674
3.

Imprinting and disease.

Walter J, Paulsen M.

Semin Cell Dev Biol. 2003 Feb;14(1):101-10. Review.

PMID:
12524013
4.

Genomic imprinting and its relevance to genetic diseases.

Niikawa N.

Jpn J Hum Genet. 1996 Dec;41(4):351-61. Review.

PMID:
9088106
5.

Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.

Shahwan A, Farrell M, Delanty N.

Lancet Neurol. 2005 Apr;4(4):239-48. Review.

PMID:
15778103
6.

Parental imprinting and human disease.

Lalande M.

Annu Rev Genet. 1996;30:173-95. Review.

PMID:
8982453
7.

Beckwith-Wiedemann syndrome and isolated hemihyperplasia.

Gomes MV, Ramos ES.

Sao Paulo Med J. 2003 May 5;121(3):133-8. Epub 2003 Aug 8. Review.

8.

Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmission.

Monteggia LM, Kavalali ET.

Biol Psychiatry. 2009 Feb 1;65(3):204-10. doi: 10.1016/j.biopsych.2008.10.036. Epub 2008 Dec 5. Review.

9.

DNA methylation in mammalian development and disease.

Dean W, Lucifero D, Santos F.

Birth Defects Res C Embryo Today. 2005 Jun;75(2):98-111. Review.

PMID:
16035040
10.

Genomic imprinting relevant to genetic diseases.

Niikawa N.

Southeast Asian J Trop Med Public Health. 1997;28 Suppl 3:46-57. Review.

PMID:
9640600
11.

Beckwith-Wiedemann syndrome: multiple molecular mechanisms.

Enklaar T, Zabel BU, Prawitt D.

Expert Rev Mol Med. 2006 Jul 17;8(17):1-19. Review.

PMID:
16842655
12.

p57KIP2 targeted disruption and Beckwith-Wiedemann syndrome: is the inhibitor just a contributor?

Swanger WJ, Roberts JM.

Bioessays. 1997 Oct;19(10):839-42. Review.

PMID:
9363677
13.

MeCP2 in Rett syndrome: transcriptional repressor or chromatin architectural protein?

Chadwick LH, Wade PA.

Curr Opin Genet Dev. 2007 Apr;17(2):121-5. Epub 2007 Feb 20. Review.

PMID:
17317146
14.

Regulation of gene activity and repression: a consideration of unifying themes.

Ferguson-Smith AC, Lin SP, Youngson N.

Curr Top Dev Biol. 2004;60:197-213. Review. No abstract available.

PMID:
15094299
15.

Atypical patterns of inheritance.

Gropman AL, Adams DR.

Semin Pediatr Neurol. 2007 Mar;14(1):34-45. Review.

PMID:
17331882
16.

Molecular genetics of Beckwith-Wiedemann syndrome.

Li M, Squire JA, Weksberg R.

Curr Opin Pediatr. 1997 Dec;9(6):623-9. Review.

PMID:
9425596
17.
18.

Molecular findings in Beckwith-Wiedemann syndrome.

Choufani S, Shuman C, Weksberg R.

Am J Med Genet C Semin Med Genet. 2013 May;163C(2):131-40. doi: 10.1002/ajmg.c.31363. Epub 2013 Apr 16. Review.

PMID:
23592339
19.

Relevance of genomic imprinting to human diseases.

Solter D.

Curr Opin Biotechnol. 1992 Dec;3(6):632-6. Review.

PMID:
1369119
20.

Beckwith-Wiedemann syndrome, tumourigenesis and imprinting.

Junien C.

Curr Opin Genet Dev. 1992 Jun;2(3):431-8. Review. Erratum in: Curr Opin Genet Dev 1992 Aug;2(4):651.

PMID:
1504618

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