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614 results

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Page 1
Atypical face shape and genomic structural variants in epilepsy.
Chinthapalli K, Bartolini E, Novy J, Suttie M, Marini C, Falchi M, Fox Z, Clayton LM, Sander JW, Guerrini R, Depondt C, Hennekam R, Hammond P, Sisodiya SM. Chinthapalli K, et al. Among authors: hennekam r. Brain. 2012 Oct;135(Pt 10):3101-14. doi: 10.1093/brain/aws232. Epub 2012 Sep 13. Brain. 2012. PMID: 22975390 Free PMC article.
Face shape differs in phylogenetically related populations.
Hopman SM, Merks JH, Suttie M, Hennekam RC, Hammond P. Hopman SM, et al. Eur J Hum Genet. 2014 Nov;22(11):1268-71. doi: 10.1038/ejhg.2013.289. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398794 Free PMC article.
Another cause of vaccine encephalopathy: a case of Angelman syndrome.
Novy J, Catarino CB, Chinthapalli K, Smith SM, Clayton-Smith J, Hennekam RC, Hammond P, Sisodiya SM. Novy J, et al. Eur J Med Genet. 2012 May;55(5):338-41. doi: 10.1016/j.ejmg.2012.01.008. Epub 2012 Jan 25. Eur J Med Genet. 2012. PMID: 22342448
Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions.
Kasperavičiūtė D, Catarino CB, Chinthapalli K, Clayton LM, Thom M, Martinian L, Cohen H, Adalat S, Bockenhauer D, Pope SA, Lench N, Koltzenburg M, Duncan JS, Hammond P, Hennekam RC, Land JM, Sisodiya SM. Kasperavičiūtė D, et al. PLoS One. 2011;6(8):e23182. doi: 10.1371/journal.pone.0023182. Epub 2011 Aug 17. PLoS One. 2011. PMID: 21858020 Free PMC article.
Opposite effects on facial morphology due to gene dosage sensitivity.
Hammond P, McKee S, Suttie M, Allanson J, Cobben JM, Maas SM, Quarrell O, Smith AC, Lewis S, Tassabehji M, Sisodiya S, Mattina T, Hennekam R. Hammond P, et al. Among authors: hennekam r. Hum Genet. 2014 Sep;133(9):1117-25. doi: 10.1007/s00439-014-1455-z. Epub 2014 Jun 3. Hum Genet. 2014. PMID: 24889830 Free PMC article.
The face signature of fibrodysplasia ossificans progressiva.
Hammond P, Suttie M, Hennekam RC, Allanson J, Shore EM, Kaplan FS. Hammond P, et al. Am J Med Genet A. 2012 Jun;158A(6):1368-80. doi: 10.1002/ajmg.a.35346. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581580 Free PMC article.
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: hennekam rc. 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.
The genetic basis of DOORS syndrome: an exome-sequencing study.
Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM. Campeau PM, et al. Among authors: hennekam rc. Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29. Lancet Neurol. 2014. PMID: 24291220 Free PMC article.
614 results