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A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.
Goodman FR, Majewski F, Collins AL, Scambler PJ. Goodman FR, et al. Among authors: scambler pj. Am J Hum Genet. 2002 Feb;70(2):547-55. doi: 10.1086/338921. Epub 2002 Jan 3. Am J Hum Genet. 2002. PMID: 11778160 Free PMC article.
Loss of heterozygosity for the short arm of chromosome 7 in sporadic Wilms tumour.
Grundy RG, Pritchard J, Scambler P, Cowell JK. Grundy RG, et al. Oncogene. 1998 Jul 23;17(3):395-400. doi: 10.1038/sj.onc.1201927. Oncogene. 1998. PMID: 9690521
Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome.
Yu T, Meiners LC, Danielsen K, Wong MT, Bowler T, Reinberg D, Scambler PJ, van Ravenswaaij-Arts CM, Basson MA. Yu T, et al. Among authors: scambler pj. Elife. 2013 Dec 24;2:e01305. doi: 10.7554/eLife.01305. Elife. 2013. PMID: 24368733 Free PMC article.
Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.
van Bueren KL, Papangeli I, Rochais F, Pearce K, Roberts C, Calmont A, Szumska D, Kelly RG, Bhattacharya S, Scambler PJ. van Bueren KL, et al. Among authors: scambler pj. Dev Biol. 2010 Apr 15;340(2):369-80. doi: 10.1016/j.ydbio.2010.01.020. Epub 2010 Feb 1. Dev Biol. 2010. PMID: 20122914 Free PMC article.
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.
Randall V, McCue K, Roberts C, Kyriakopoulou V, Beddow S, Barrett AN, Vitelli F, Prescott K, Shaw-Smith C, Devriendt K, Bosman E, Steffes G, Steel KP, Simrick S, Basson MA, Illingworth E, Scambler PJ. Randall V, et al. Among authors: scambler pj. J Clin Invest. 2009 Nov;119(11):3301-10. doi: 10.1172/JCI37561. Epub 2009 Oct 12. J Clin Invest. 2009. PMID: 19855134 Free PMC article.
Clinical and molecular effects of CHD7 in the heart.
Corsten-Janssen N, Scambler PJ. Corsten-Janssen N, et al. Among authors: scambler pj. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):487-495. doi: 10.1002/ajmg.c.31590. Epub 2017 Oct 31. Am J Med Genet C Semin Med Genet. 2017. PMID: 29088513 Review.
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.
Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, Carette M, Grigg JR, McAvoy JW, Lovicu FJ, Tam PP, Scambler P, Lloyd IC, Donnai D, Black GC. Jamieson RV, et al. Hum Mutat. 2007 Oct;28(10):968-77. doi: 10.1002/humu.20545. Hum Mutat. 2007. PMID: 17492639
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE. Hanson D, et al. Am J Hum Genet. 2009 Jun;84(6):801-6. doi: 10.1016/j.ajhg.2009.04.021. Epub 2009 May 28. Am J Hum Genet. 2009. PMID: 19481195 Free PMC article.
Microarray analysis of the Df1 mouse model of the 22q11 deletion syndrome.
Prescott K, Ivins S, Hubank M, Lindsay E, Baldini A, Scambler P. Prescott K, et al. Hum Genet. 2005 May;116(6):486-96. doi: 10.1007/s00439-005-1274-3. Epub 2005 Mar 19. Hum Genet. 2005. PMID: 15778864
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P. Koziell A, et al. Hum Mol Genet. 2002 Feb 15;11(4):379-88. doi: 10.1093/hmg/11.4.379. Hum Mol Genet. 2002. PMID: 11854170
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