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An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. Upadhyaya M, et al. Among authors: griffiths s. Am J Hum Genet. 2007 Jan;80(1):140-51. doi: 10.1086/510781. Epub 2006 Dec 8. Am J Hum Genet. 2007. PMID: 17160901 Free PMC article.
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
Mantripragada KK, Thuresson AC, Piotrowski A, Díaz de Ståhl T, Menzel U, Grigelionis G, Ferner RE, Griffiths S, Bolund L, Mautner V, Nordling M, Legius E, Vetrie D, Dahl N, Messiaen L, Upadhyaya M, Bruder CE, Dumanski JP. Mantripragada KK, et al. Among authors: griffiths s. J Med Genet. 2006 Jan;43(1):28-38. doi: 10.1136/jmg.2005.033795. Epub 2005 Jun 8. J Med Genet. 2006. PMID: 15944227 Free PMC article.
Anhedonia as a potential transdiagnostic phenotype with immune-related changes in recent onset mental health disorders.
Lalousis PA, Malaviya A, Khatibi A, Saberi M, Kambeitz-Ilankovic L, Haas SS, Wood SJ, Barnes NM, Rogers J, Chisholm K, Bertolino A, Borgwardt S, Brambilla P, Kambeitz J, Lencer R, Pantelis C, Ruhrmann S, Salokangas RKR, Schultze-Lutter F, Schmidt A, Meisenzahl E, Dwyer D, Koutsouleris N, Upthegrove R, Griffiths SL; PRONIA Consortium. Lalousis PA, et al. Among authors: griffiths sl. Biol Psychiatry. 2024 May 30:S0006-3223(24)01354-4. doi: 10.1016/j.biopsych.2024.05.019. Online ahead of print. Biol Psychiatry. 2024. PMID: 38823495 Free article.
1,189 results