Palmer R - Search Results

1

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

Kenny J, Lees MM, Drury S, Barnicoat A, Van't Hoff W, Palmer R, Morrogh D, Waters JJ, Lench NJ, Bockenhauer D. Kenny J, et al. Among authors: palmer r. Pediatr Nephrol. 2011 Aug;26(8):1331-4. doi: 10.1007/s00467-011-1884-z. Epub 2011 May 20. Pediatr Nephrol. 2011. PMID: 21597970

2

An unusual presentation of Smith-Magenis syndrome with iris dysgenesis.

Barnicoat AJ, Moller HU, Palmer RW, Russell-Eggitt I, Winter RM. Barnicoat AJ, et al. Among authors: palmer rw. Clin Dysmorphol. 1996 Apr;5(2):153-8. doi: 10.1097/00019605-199604000-00007. Clin Dysmorphol. 1996. PMID: 8723565

3

The idic(15) syndrome: expanding the phenotype.

Galizia EC, Palmer R, Waters JJ, Koepp MJ, Hennekam RC, Sisodiya SM. Galizia EC, et al. Among authors: palmer r. Am J Med Genet A. 2012 Jun;158A(6):1505-8. doi: 10.1002/ajmg.a.35366. Epub 2012 May 14. Am J Med Genet A. 2012. PMID: 22585586 No abstract available.

4

Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities.

Galizia EC, Srikantha M, Palmer R, Waters JJ, Lench N, Ogilvie CM, Kasperavičiūtė D, Nashef L, Sisodiya SM. Galizia EC, et al. Among authors: palmer r. Eur J Med Genet. 2012 May;55(5):342-8. doi: 10.1016/j.ejmg.2011.12.011. Epub 2012 Jan 28. Eur J Med Genet. 2012. PMID: 22342432 Free PMC article.

5

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

Trump N, McTague A, Brittain H, Papandreou A, Meyer E, Ngoh A, Palmer R, Morrogh D, Boustred C, Hurst JA, Jenkins L, Kurian MA, Scott RH. Trump N, et al. Among authors: palmer r. J Med Genet. 2016 May;53(5):310-7. doi: 10.1136/jmedgenet-2015-103263. Epub 2016 Mar 18. J Med Genet. 2016. PMID: 26993267 Free PMC article.

6

Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.

Kinsler VA, Thomas AC, Ishida M, Bulstrode NW, Loughlin S, Hing S, Chalker J, McKenzie K, Abu-Amero S, Slater O, Chanudet E, Palmer R, Morrogh D, Stanier P, Healy E, Sebire NJ, Moore GE. Kinsler VA, et al. Among authors: palmer r. J Invest Dermatol. 2013 Sep;133(9):2229-36. doi: 10.1038/jid.2013.70. Epub 2013 Feb 7. J Invest Dermatol. 2013. PMID: 23392294 Free PMC article.

7

A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome.

Prescott K, Woodfine K, Stubbs P, Super M, Kerr B, Palmer R, Carter NP, Scambler P. Prescott K, et al. Among authors: palmer r. Hum Genet. 2005 Jan;116(1-2):83-90. doi: 10.1007/s00439-004-1195-6. Epub 2004 Nov 10. Hum Genet. 2005. PMID: 15549396

8

A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally.

Baple E, Palmer R, Hennekam RC. Baple E, et al. Among authors: palmer r. Mol Syndromol. 2010 Feb;1(1):42-5. doi: 10.1159/000275671. Epub 2010 Jan 11. Mol Syndromol. 2010. PMID: 20648245 Free PMC article.

9

Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2.

Rose CS, King AA, Summers D, Palmer R, Yang S, Wilkie AO, Reardon W, Malcolm S, Winter RM. Rose CS, et al. Among authors: palmer r. Hum Mol Genet. 1994 Aug;3(8):1405-8. doi: 10.1093/hmg/3.8.1405. Hum Mol Genet. 1994. PMID: 7987323

10

Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families.

Wang J, Spitz L, Hayward R, Kiely E, Hall CM, O'Donoghue DP, Palmer R, Goodman FR, Scambler PJ, Winter RM, Reardon W. Wang J, et al. Among authors: palmer r. Eur J Pediatr. 1999 Nov;158(11):902-5. doi: 10.1007/s004310051238. Eur J Pediatr. 1999. PMID: 10541945

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