Algar EM - Search Results

1

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

Sandaradura SA, Bournazos A, Mallawaarachchi A, Cummings BB, Waddell LB, Jones KJ, Troedson C, Sudarsanam A, Nash BM, Peters GB, Algar EM, MacArthur DG, North KN, Brammah S, Charlton A, Laing NG, Wilson MJ, Davis MR, Cooper ST. Sandaradura SA, et al. Among authors: algar em. Hum Mutat. 2018 Mar;39(3):383-388. doi: 10.1002/humu.23385. Epub 2018 Jan 13. Hum Mutat. 2018. PMID: 29266598 Free PMC article.

2

The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports.

Wilson M, Peters G, Bennetts B, McGillivray G, Wu ZH, Poon C, Algar E. Wilson M, et al. Am J Med Genet A. 2008 Jan 15;146A(2):137-48. doi: 10.1002/ajmg.a.32172. Am J Med Genet A. 2008. PMID: 18033734

3

Homozygous intragenic deletion in the WT1 gene in a sporadic Wilms' tumour associated with high levels of expression of a truncated transcript.

Algar EM, Kenney MT, Simms LA, Smith SI, Kida Y, Smith PJ. Algar EM, et al. Hum Mutat. 1995;5(3):221-7. doi: 10.1002/humu.1380050306. Hum Mutat. 1995. PMID: 7599632

4

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.

Dagar V, Hutchison W, Muscat A, Krishnan A, Hoke D, Buckle A, Siswara P, Amor DJ, Mann J, Pinner J, Colley A, Wilson M, Sachdev R, McGillivray G, Edwards M, Kirk E, Collins F, Jones K, Taylor J, Hayes I, Thompson E, Barnett C, Haan E, Freckmann ML, Turner A, White S, Kamien B, Ma A, Mackenzie F, Baynam G, Kiraly-Borri C, Field M, Dudding-Byth T, Algar EM. Dagar V, et al. Among authors: algar em. Clin Epigenetics. 2018 Aug 30;10(1):114. doi: 10.1186/s13148-018-0546-4. Clin Epigenetics. 2018. PMID: 30165906 Free PMC article.

5

Analysis of CDKN1C in Beckwith Wiedemann syndrome.

Algar E, Brickell S, Deeble G, Amor D, Smith P. Algar E, et al. Hum Mutat. 2000;15(6):497-508. doi: 10.1002/1098-1004(200006)15:6<497::AID-HUMU2>3.0.CO;2-F. Hum Mutat. 2000. PMID: 10862080

6

Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution melting.

Wojdacz TK, Dobrovic A, Algar EM. Wojdacz TK, et al. Among authors: algar em. Hum Mutat. 2008 Oct;29(10):1255-60. doi: 10.1002/humu.20779. Hum Mutat. 2008. PMID: 18473334

7

Bilateral Wilms tumor and early presentation in pediatric patients is associated with the truncation of the Wilms tumor 1 protein.

Hu M, Fletcher J, McCahon E, Catchpoole D, Zhang GY, Wang YM, Algar EM, Alexander SI. Hu M, et al. Among authors: algar em. J Pediatr. 2013 Jul;163(1):224-9. doi: 10.1016/j.jpeds.2012.12.080. Epub 2013 Feb 10. J Pediatr. 2013. PMID: 23403252

8

CDKN1C expression in Beckwith-Wiedemann syndrome patients with allele imbalance.

Algar EM, Deeble GJ, Smith PJ. Algar EM, et al. J Med Genet. 1999 Jul;36(7):524-31. J Med Genet. 1999. PMID: 10424812 Free PMC article.

9

Analysis of paediatric tumour types associated with hemihyperplasia in childhood.

Smith PJ, Sullivan M, Algar E, Shapiro DN. Smith PJ, et al. J Paediatr Child Health. 1994 Dec;30(6):515-7. doi: 10.1111/j.1440-1754.1994.tb00724.x. J Paediatr Child Health. 1994. PMID: 7865265

10

The insulin-like growth factor 1 receptor gene is normally biallelically expressed in human juvenile tissue and tumours.

Howard TK, Algar EM, Glatz JA, Reeve AE, Smith PJ. Howard TK, et al. Among authors: algar em. Hum Mol Genet. 1993 Dec;2(12):2089-92. doi: 10.1093/hmg/2.12.2089. Hum Mol Genet. 1993. PMID: 8111378

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