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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 1
2002 1
2004 4
2005 3
2006 3
2008 1
2009 2
2010 2
2011 3
2013 1
2015 1
2024 0

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PubMed (OMIM) for id: 54806

20 results

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Page 1
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ. Elsayed SM, et al. Hum Mol Genet. 2015 May 1;24(9):2594-603. doi: 10.1093/hmg/ddv022. Epub 2015 Jan 23. Hum Mol Genet. 2015. PMID: 25616960 Free PMC article.
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Najmabadi H, et al. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423. Nature. 2011. PMID: 21937992
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG. Louie CM, et al. Nat Genet. 2010 Feb;42(2):175-80. doi: 10.1038/ng.519. Epub 2010 Jan 17. Nat Genet. 2010. PMID: 20081859 Free PMC article.
A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia.
Ingason A, Giegling I, Cichon S, Hansen T, Rasmussen HB, Nielsen J, Jürgens G, Muglia P, Hartmann AM, Strengman E, Vasilescu C, Mühleisen TW, Djurovic S, Melle I, Lerer B, Möller HJ, Francks C, Pietiläinen OP, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Walshe M, Vassos E, Di Forti M, Murray R, Bonetto C, Tosato S; GROUP Investigators; Cantor RM, Rietschel M, Craddock N, Owen MJ, Peltonen L, Andreassen OA, Nöthen MM, St Clair D, Ophoff RA, O'Donovan MC, Collier DA, Werge T, Rujescu D. Ingason A, et al. Hum Mol Genet. 2010 Apr 1;19(7):1379-86. doi: 10.1093/hmg/ddq009. Epub 2010 Jan 12. Hum Mol Genet. 2010. PMID: 20071346 Free PMC article.
20 results