Lever M - Search Results

1

A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.

Grosvenor SE, Davies JH, Lever M, Sillibourne J, Mackay DJG, Temple IK. Grosvenor SE, et al. Among authors: lever m. Am J Med Genet A. 2022 Jun;188(6):1896-1903. doi: 10.1002/ajmg.a.62717. Epub 2022 Mar 9. Am J Med Genet A. 2022. PMID: 35266280 Free PMC article.

2

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.

Temple IK, Shrubb V, Lever M, Bullman H, Mackay DJ. Temple IK, et al. Among authors: lever m. J Med Genet. 2007 Oct;44(10):637-40. doi: 10.1136/jmg.2007.050807. Epub 2007 Jun 29. J Med Genet. 2007. PMID: 17601927 Free PMC article.

3

Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome.

Bullman H, Lever M, Robinson DO, Mackay DJ, Holder SE, Wakeling EL. Bullman H, et al. Among authors: lever m. J Med Genet. 2008 Jun;45(6):396-9. doi: 10.1136/jmg.2007.057059. Epub 2008 May 12. J Med Genet. 2008. PMID: 18474587

4

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.

Turner CL, Mackay DM, Callaway JL, Docherty LE, Poole RL, Bullman H, Lever M, Castle BM, Kivuva EC, Turnpenny PD, Mehta SG, Mansour S, Wakeling EL, Mathew V, Madden J, Davies JH, Temple IK. Turner CL, et al. Among authors: lever m. Eur J Hum Genet. 2010 Jun;18(6):648-55. doi: 10.1038/ejhg.2009.246. Epub 2010 Jan 27. Eur J Hum Genet. 2010. PMID: 20104244 Free PMC article.

5

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.

Temple IK, Shrubb V, Lever M, Bullman H, Mackay DJ. Temple IK, et al. Among authors: lever m. BMJ Case Rep. 2009;2009:bcr06.2009.1997. doi: 10.1136/bcr.06.2009.1997. Epub 2009 Jul 1. BMJ Case Rep. 2009. PMID: 21731585 Free PMC article.

6

Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain.

Naik S, Thomas NS, Davies JH, Lever M, Raponi M, Baralle D, Temple IK, Caliebe A. Naik S, et al. Among authors: lever m. Mol Syndromol. 2012 Jan;2(2):76-80. doi: 10.1159/000335220. Epub 2012 Jan 4. Mol Syndromol. 2012. PMID: 22511895 Free PMC article.

7

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.

Calton EA, Temple IK, Mackay DJ, Lever M, Ellard S, Flanagan SE, Davies JH, Hussain K, Gray JC. Calton EA, et al. Among authors: lever m. Eur J Med Genet. 2013 Feb;56(2):114-7. doi: 10.1016/j.ejmg.2012.12.001. Epub 2012 Dec 20. Eur J Med Genet. 2013. PMID: 23261959

8

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.

Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, Sillibourne J, Lombardi P, Gaston V, Tauber M, Diene G, Bieth E, Fernandez L, Nevado J, Tümer Z, Riccio A, Maher ER, Beygo J, Tannorella P, Russo S, de Nanclares GP, Temple IK, Ogata T, Lapunzina P, Eggermann T. Mackay D, et al. Among authors: lever m. Clin Epigenetics. 2022 Nov 7;14(1):143. doi: 10.1186/s13148-022-01358-9. Clin Epigenetics. 2022. PMID: 36345041 Free PMC article.

9

Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy.

Harrison V, Hurst J, Lloyd-Jani A, Lester T, Lever M, Man S, O'Rourke A, Robinson D, Tabiner M, Williams R, Kini U. Harrison V, et al. Among authors: lever m. Clin Dysmorphol. 2012 Oct;21(4):208-211. doi: 10.1097/MCD.0b013e328356da42. Clin Dysmorphol. 2012. PMID: 22797553 No abstract available.

10

Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q.

Dixit A, Chandler KE, Lever M, Poole RL, Bullman H, Mughal MZ, Steggall M, Suri M. Dixit A, et al. Among authors: lever m. J Clin Endocrinol Metab. 2013 Jan;98(1):E103-8. doi: 10.1210/jc.2012-2639. Epub 2012 Nov 8. J Clin Endocrinol Metab. 2013. PMID: 23144470 Review.

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