Spurlock G - Search Results

1

Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families.

Spurlock G, Jim HP, Upadhyaya M. Spurlock G, et al. Muscle Nerve. 2010 Nov;42(5):820-1. doi: 10.1002/mus.21766. Muscle Nerve. 2010. PMID: 20928905

2

High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

Mantripragada KK, Spurlock G, Kluwe L, Chuzhanova N, Ferner RE, Frayling IM, Dumanski JP, Guha A, Mautner V, Upadhyaya M. Mantripragada KK, et al. Among authors: spurlock g. Clin Cancer Res. 2008 Feb 15;14(4):1015-24. doi: 10.1158/1078-0432.CCR-07-1305. Clin Cancer Res. 2008. PMID: 18281533

3

A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere.

Thomas NS, Wiseman K, Spurlock G, MacDonald M, Ustek D, Upadhyaya M. Thomas NS, et al. Among authors: spurlock g. J Med Genet. 2007 Mar;44(3):215-8. doi: 10.1136/jmg.2006.042804. Epub 2006 Sep 20. J Med Genet. 2007. PMID: 16987949 Free PMC article.

4

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M. Spurlock G, et al. J Med Genet. 2009 Jul;46(7):431-7. doi: 10.1136/jmg.2008.065474. Epub 2009 May 13. J Med Genet. 2009. PMID: 19443465

5

Congenital disseminated neurofibromatosis type 1: a clinical and molecular case report.

Stewart H, Bowker C, Edees S, Smalley S, Crocker M, Mechan D, Forrester N, Spurlock G, Upadhyaya M. Stewart H, et al. Among authors: spurlock g. Am J Med Genet A. 2008 Jun 1;146A(11):1444-52. doi: 10.1002/ajmg.a.32305. Am J Med Genet A. 2008. PMID: 18438896

6

Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).

Upadhyaya M, Kluwe L, Spurlock G, Monem B, Majounie E, Mantripragada K, Ruggieri M, Chuzhanova N, Evans DG, Ferner R, Thomas N, Guha A, Mautner V. Upadhyaya M, et al. Among authors: spurlock g. Hum Mutat. 2008 Jan;29(1):74-82. doi: 10.1002/humu.20601. Hum Mutat. 2008. PMID: 17960768

7

Identification of five novel SPRED1 germline mutations in Legius syndrome.

Laycock-van Spyk S, Jim HP, Thomas L, Spurlock G, Fares L, Palmer-Smith S, Kini U, Saggar A, Patton M, Mautner V, Pilz DT, Upadhyaya M. Laycock-van Spyk S, et al. Among authors: spurlock g. Clin Genet. 2011 Jul;80(1):93-6. doi: 10.1111/j.1399-0004.2010.01618.x. Clin Genet. 2011. PMID: 21649642 No abstract available.

8

Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools.

Norton N, Williams NM, Williams HJ, Spurlock G, Kirov G, Morris DW, Hoogendoorn B, Owen MJ, O'Donovan MC. Norton N, et al. Among authors: spurlock g. Hum Genet. 2002 May;110(5):471-8. doi: 10.1007/s00439-002-0706-6. Epub 2002 Mar 23. Hum Genet. 2002. PMID: 12073018

9

Autosome search for schizophrenia susceptibility genes in multiply affected families.

Rees MI, Fenton I, Williams NM, Holmans P, Norton N, Cardno A, Asherson P, Spurlock G, Roberts E, Parfitt E, Mant R, Vallada H, Dawson E, Li MW, Collier DA, Powell JF, Nanko S, Gill M, McGuffin P, Owen MJ. Rees MI, et al. Among authors: spurlock g. Mol Psychiatry. 1999 Jul;4(4):353-9. doi: 10.1038/sj.mp.4000521. Mol Psychiatry. 1999. PMID: 10483052

10

Further support for an association between a polymorphic CAG repeat in the hKCa3 gene and schizophrenia.

Bowen T, Guy CA, Craddock N, Cardno AG, Williams NM, Spurlock G, Murphy KC, Jones LA, Gray M, Sanders RD, McCarthy G, Chandy KG, Fantino E, Kalman K, Gutman GA, Gargus JJ, Williams J, McGuffin P, Owen MJ, O'Donovan MC. Bowen T, et al. Among authors: spurlock g. Mol Psychiatry. 1998 May;3(3):266-9. doi: 10.1038/sj.mp.4000400. Mol Psychiatry. 1998. PMID: 9672903

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