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

Year Number of Results
1964 1
1965 1
1986 1
1988 1
1991 1
1992 2
1994 1
1995 1
1998 2
2000 3
2003 2
2004 1
2005 2
2007 1
2008 2
2010 2
2011 2
2013 4
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2024 0

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PubMed (OMIM) for id: 3756

33 results

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Page 1
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K. Kortüm F, et al. Nat Genet. 2015 Jun;47(6):661-7. doi: 10.1038/ng.3282. Epub 2015 Apr 27. Nat Genet. 2015. PMID: 25915598
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ. Simons C, et al. Nat Genet. 2015 Jan;47(1):73-7. doi: 10.1038/ng.3153. Epub 2014 Nov 24. Nat Genet. 2015. PMID: 25420144
Report of a patient with Temple-Baraitser syndrome.
Yesil G, Guler S, Yuksel A, Alanay Y. Yesil G, et al. Am J Med Genet A. 2014 Mar;164A(3):848-51. doi: 10.1002/ajmg.a.36344. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357613 No abstract available.
Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice.
Ufartes R, Schneider T, Mortensen LS, de Juan Romero C, Hentrich K, Knoetgen H, Beilinson V, Moebius W, Tarabykin V, Alves F, Pardo LA, Rawlins JN, Stuehmer W. Ufartes R, et al. Hum Mol Genet. 2013 Jun 1;22(11):2247-62. doi: 10.1093/hmg/ddt076. Epub 2013 Feb 18. Hum Mol Genet. 2013. PMID: 23424202 Free PMC article.
Wide clinical spectrum in Zimmermann-Laband syndrome.
Davalos IP, Brambila-Tapia AJ, Dávalos NO, Durán-González J, González-Mercado MG, Cruz-Ramos JA, Ríos-González BE, E'vega R, Zavala-Cerna MG, García-Cruz MO, García-cruz D. Davalos IP, et al. Genet Couns. 2011;22(1):1-10. Genet Couns. 2011. PMID: 21614982
Temple-Baraitser syndrome: a rare and possibly unrecognized condition.
Jacquinet A, Gérard M, Gabbett MT, Rausin L, Misson JP, Menten B, Mortier G, Van Maldergem L, Verloes A, Debray FG. Jacquinet A, et al. Am J Med Genet A. 2010 Sep;152A(9):2322-6. doi: 10.1002/ajmg.a.33574. Am J Med Genet A. 2010. PMID: 20683999
33 results