Poole RL - Search Results

1

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.

Rezwan FI, Poole RL, Prescott T, Walker JM, Karen Temple I, Mackay DJ. Rezwan FI, et al. Among authors: poole rl. Eur J Hum Genet. 2015 Apr;23(4):494-9. doi: 10.1038/ejhg.2014.133. Epub 2014 Jul 9. Eur J Hum Genet. 2015. PMID: 25005734 Free PMC article.

2

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: poole rl. 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.

3

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting.

Poole RL, Baple E, Crolla JA, Temple IK, Mackay DJ. Poole RL, et al. Am J Med Genet A. 2010 Aug;152A(8):1990-3. doi: 10.1002/ajmg.a.33530. Am J Med Genet A. 2010. PMID: 20635366

4

Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes.

Docherty LE, Poole RL, Mattocks CJ, Lehmann A, Temple IK, Mackay DJ. Docherty LE, et al. Among authors: poole rl. Diabetologia. 2010 Nov;53(11):2347-51. doi: 10.1007/s00125-010-1853-2. Epub 2010 Jul 30. Diabetologia. 2010. PMID: 20668833

5

Epigenotype-phenotype correlations in Silver-Russell syndrome.

Wakeling EL, Amero SA, Alders M, Bliek J, Forsythe E, Kumar S, Lim DH, MacDonald F, Mackay DJ, Maher ER, Moore GE, Poole RL, Price SM, Tangeraas T, Turner CL, Van Haelst MM, Willoughby C, Temple IK, Cobben JM. Wakeling EL, et al. Among authors: poole rl. J Med Genet. 2010 Nov;47(11):760-8. doi: 10.1136/jmg.2010.079111. Epub 2010 Aug 3. J Med Genet. 2010. PMID: 20685669 Free PMC article.

6

An atypical case of hypomethylation at multiple imprinted loci.

Baple EL, Poole RL, Mansour S, Willoughby C, Temple IK, Docherty LE, Taylor R, Mackay DJ. Baple EL, et al. Among authors: poole rl. Eur J Hum Genet. 2011 Mar;19(3):360-2. doi: 10.1038/ejhg.2010.218. Epub 2011 Jan 5. Eur J Hum Genet. 2011. PMID: 21206512 Free PMC article.

7

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.

Grønskov K, Poole RL, Hahnemann JM, Thomson J, Tümer Z, Brøndum-Nielsen K, Murphy R, Ravn K, Melchior L, Dedic A, Dolmer B, Temple IK, Boonen SE, Mackay DJ. Grønskov K, et al. Among authors: poole rl. J Med Genet. 2011 May;48(5):308-11. doi: 10.1136/jmg.2010.086504. Epub 2011 Jan 28. J Med Genet. 2011. PMID: 21278389

8

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

Poole RL, Leith DJ, Docherty LE, Shmela ME, Gicquel C, Splitt M, Temple IK, Mackay DJ. Poole RL, et al. Eur J Hum Genet. 2012 Feb;20(2):240-3. doi: 10.1038/ejhg.2011.166. Epub 2011 Aug 24. Eur J Hum Genet. 2012. PMID: 21863054 Free PMC article.

9

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

Poole RL, Docherty LE, Al Sayegh A, Caliebe A, Turner C, Baple E, Wakeling E, Harrison L, Lehmann A, Temple IK, Mackay DJ; International Clinical Imprinting Consortium. Poole RL, et al. Am J Med Genet A. 2013 Sep;161A(9):2174-82. doi: 10.1002/ajmg.a.36049. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913548

10

3-M syndrome: a growth disorder associated with IGF2 silencing.

Murray PG, Hanson D, Coulson T, Stevens A, Whatmore A, Poole RL, Mackay DJ, Black GC, Clayton PE. Murray PG, et al. Among authors: poole rl. Endocr Connect. 2013 Nov 11;2(4):225-35. doi: 10.1530/EC-13-0065. Print 2013. Endocr Connect. 2013. PMID: 24148222 Free PMC article.

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