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Results by year

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

Year Number of Results
1998 1
1999 2
2000 1
2001 4
2002 1
2003 1
2004 3
2005 4
2007 1
2008 1
2009 3
2010 3
2011 3
2012 4
2013 2
2014 8
2015 10
2016 4
2017 2
2018 7
2019 11
2020 12
2021 16
2022 10
2023 11
2024 5

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PubMed for id: 9342

113 results

Results by year

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Page 1
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarski E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewska LA. McDonald-McGinn DM, et al. J Med Genet. 2013 Feb;50(2):80-90. doi: 10.1136/jmedgenet-2012-101320. Epub 2012 Dec 11. J Med Genet. 2013. PMID: 23231787 Free PMC article.
CEDNIK syndrome results from loss-of-function mutations in SNAP29.
Fuchs-Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, Lugassy Y, Emmert S, Eckl K, Hennies HC, Sarig O, Goldsher D, Meilik B, Ishida-Yamamoto A, Horowitz M, Sprecher E. Fuchs-Telem D, et al. Br J Dermatol. 2011 Mar;164(3):610-6. doi: 10.1111/j.1365-2133.2010.10133.x. Epub 2011 Feb 17. Br J Dermatol. 2011. PMID: 21073448
[Genetic analysis of genitourinary malformations].
Zhang JS, Fu Y, Zhao YH, Li F, Qian AL, Wu B, Li-Ling J. Zhang JS, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Apr;26(2):134-8. doi: 10.3760/cma.j.issn.1003-9406.2009.02.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009. PMID: 19350501 Chinese.
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.
Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, Topaz O, Chefetz I, Keren H, O'brien TJ, Bercovich D, Shalev S, Geiger D, Bergman R, Horowitz M, Mandel H. Sprecher E, et al. Am J Hum Genet. 2005 Aug;77(2):242-51. doi: 10.1086/432556. Epub 2005 Jun 20. Am J Hum Genet. 2005. PMID: 15968592 Free PMC article.
SNAP-29 is a promiscuous syntaxin-binding SNARE.
Hohenstein AC, Roche PA. Hohenstein AC, et al. Biochem Biophys Res Commun. 2001 Jul 13;285(2):167-71. doi: 10.1006/bbrc.2001.5141. Biochem Biophys Res Commun. 2001. PMID: 11444821
113 results