Maher ER - Search Results

1

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.

Cerrato F, Sparago A, Verde G, De Crescenzo A, Citro V, Cubellis MV, Rinaldi MM, Boccuto L, Neri G, Magnani C, D'Angelo P, Collini P, Perotti D, Sebastio G, Maher ER, Riccio A. Cerrato F, et al. Among authors: maher er. Hum Mol Genet. 2008 May 15;17(10):1427-35. doi: 10.1093/hmg/ddn031. Epub 2008 Feb 1. Hum Mol Genet. 2008. PMID: 18245780 Free article.

2

Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.

Reik W, Brown KW, Slatter RE, Sartori P, Elliott M, Maher ER. Reik W, et al. Among authors: maher er. Hum Mol Genet. 1994 Aug;3(8):1297-301. doi: 10.1093/hmg/3.8.1297. Hum Mol Genet. 1994. PMID: 7987305

3

Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain.

Reik W, Brown KW, Schneid H, Le Bouc Y, Bickmore W, Maher ER. Reik W, et al. Among authors: maher er. Hum Mol Genet. 1995 Dec;4(12):2379-85. doi: 10.1093/hmg/4.12.2379. Hum Mol Genet. 1995. PMID: 8634713

4

Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway.

Brown KW, Villar AJ, Bickmore W, Clayton-Smith J, Catchpoole D, Maher ER, Reik W. Brown KW, et al. Among authors: maher er. Hum Mol Genet. 1996 Dec;5(12):2027-32. doi: 10.1093/hmg/5.12.2027. Hum Mol Genet. 1996. PMID: 8968759

5

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

Catchpoole D, Lam WW, Valler D, Temple IK, Joyce JA, Reik W, Schofield PN, Maher ER. Catchpoole D, et al. Among authors: maher er. J Med Genet. 1997 May;34(5):353-9. doi: 10.1136/jmg.34.5.353. J Med Genet. 1997. PMID: 9152830 Free PMC article.

6

Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome.

Joyce JA, Lam WK, Catchpoole DJ, Jenks P, Reik W, Maher ER, Schofield PN. Joyce JA, et al. Among authors: maher er. Hum Mol Genet. 1997 Sep;6(9):1543-8. doi: 10.1093/hmg/6.9.1543. Hum Mol Genet. 1997. PMID: 9285792

7

Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.

Brewer CM, Lam WW, Hayward C, Grace E, Maher ER, FitzPatrick DR. Brewer CM, et al. Among authors: maher er. J Med Genet. 1998 Feb;35(2):162-4. doi: 10.1136/jmg.35.2.162. J Med Genet. 1998. PMID: 9507400 Free PMC article.

8

Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5.

Paulsen M, Davies KR, Bowden LM, Villar AJ, Franck O, Fuermann M, Dean WL, Moore TF, Rodrigues N, Davies KE, Hu RJ, Feinberg AP, Maher ER, Reik W, Walter J. Paulsen M, et al. Among authors: maher er. Hum Mol Genet. 1998 Jul;7(7):1149-59. doi: 10.1093/hmg/7.7.1149. Hum Mol Genet. 1998. PMID: 9618174

9

Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Engel JR, Smallwood A, Harper A, Higgins MJ, Oshimura M, Reik W, Schofield PN, Maher ER. Engel JR, et al. Among authors: maher er. J Med Genet. 2000 Dec;37(12):921-6. doi: 10.1136/jmg.37.12.921. J Med Genet. 2000. PMID: 11106355 Free PMC article.

10

Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome.

Diaz-Meyer N, Day CD, Khatod K, Maher ER, Cooper W, Reik W, Junien C, Graham G, Algar E, Der Kaloustian VM, Higgins MJ. Diaz-Meyer N, et al. Among authors: maher er. J Med Genet. 2003 Nov;40(11):797-801. doi: 10.1136/jmg.40.11.797. J Med Genet. 2003. PMID: 14627666 Free PMC article.

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