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Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Petek E, Schwarzbraun T, Noor A, Patel M, Nakabayashi K, Choufani S, Windpassinger C, Stamenkovic M, Robertson MM, Aschauer HN, Gurling HM, Kroisel PM, Wagner K, Scherer SW, Vincent JB. Petek E, et al. Among authors: patel m. Mol Genet Genomics. 2007 Jan;277(1):71-81. doi: 10.1007/s00438-006-0173-1. Epub 2006 Oct 17. Mol Genet Genomics. 2007. PMID: 17043892 Clinical Trial.
Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Paterson AD, Lutufullah M, Doherty D, Vincent JB, Ayub M. Noor A, et al. Among authors: patel m. Am J Hum Genet. 2008 Nov;83(5):656. doi: 10.1016/j.ajhg.2008.10.005. Am J Hum Genet. 2008. PMID: 19068953 Free PMC article. No abstract available.
Addressing barriers and identifying facilitators to support informed consent and recruitment in the Cavernous malformations A Randomised Effectiveness (CARE) pilot phase trial: insights from the integrated QuinteT recruitment intervention (QRI).
Wade J, Farrar N, Realpe AX, Donovan JL, Forsyth L, Harkness KA, Hutchinson PJA, Kitchen N, Lewis SC, Loan JJM, Stephen J, Al-Shahi Salman R; CARE pilot trial collaboration. Wade J, et al. EClinicalMedicine. 2024 Apr 18;71:102557. doi: 10.1016/j.eclinm.2024.102557. eCollection 2024 May. EClinicalMedicine. 2024. PMID: 38813441 Free PMC article.
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