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CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group; Valente EM, Gleeson JG. Brancati F, et al. Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 May 18. Am J Hum Genet. 2007. PMID: 17564967 Free PMC article.
The role of corpus callosum development in functional connectivity and cognitive processing.
Hinkley LB, Marco EJ, Findlay AM, Honma S, Jeremy RJ, Strominger Z, Bukshpun P, Wakahiro M, Brown WS, Paul LK, Barkovich AJ, Mukherjee P, Nagarajan SS, Sherr EH. Hinkley LB, et al. Among authors: marco ej. PLoS One. 2012;7(8):e39804. doi: 10.1371/journal.pone.0039804. Epub 2012 Aug 3. PLoS One. 2012. PMID: 22870191 Free PMC article. Clinical Trial.
Children with autism show reduced somatosensory response: an MEG study.
Marco EJ, Khatibi K, Hill SS, Siegel B, Arroyo MS, Dowling AF, Neuhaus JM, Sherr EH, Hinkley LN, Nagarajan SS. Marco EJ, et al. Autism Res. 2012 Oct;5(5):340-51. doi: 10.1002/aur.1247. Epub 2012 Aug 29. Autism Res. 2012. PMID: 22933354 Free PMC article.
Autism traits in individuals with agenesis of the corpus callosum.
Lau YC, Hinkley LB, Bukshpun P, Strominger ZA, Wakahiro ML, Baron-Cohen S, Allison C, Auyeung B, Jeremy RJ, Nagarajan SS, Sherr EH, Marco EJ. Lau YC, et al. Among authors: marco ej. J Autism Dev Disord. 2013 May;43(5):1106-18. doi: 10.1007/s10803-012-1653-2. J Autism Dev Disord. 2013. PMID: 23054201 Free PMC article.
129 results