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Year | Number of Results |
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2004 | 1 |
2005 | 1 |
2011 | 1 |
2014 | 1 |
2017 | 1 |
2024 | 0 |
PubMed (cited) for id: 609739
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ILDR1 is important for paracellular water transport and urine concentration mechanism.
Proc Natl Acad Sci U S A. 2017 May 16;114(20):5271-5276. doi: 10.1073/pnas.1701006114. Epub 2017 May 1.
Proc Natl Acad Sci U S A. 2017.
PMID: 28461473
Free PMC article.
Ildr1b is essential for semicircular canal development, migration of the posterior lateral line primordium and hearing ability in zebrafish: implications for a role in the recessive hearing impairment DFNB42.
Sang Q, Zhang J, Feng R, Wang X, Li Q, Zhao X, Xing Q, Chen W, Du J, Sun S, Chai R, Liu D, Jin L, He L, Li H, Wang L.
Sang Q, et al.
Hum Mol Genet. 2014 Dec 1;23(23):6201-11. doi: 10.1093/hmg/ddu340. Epub 2014 Jul 2.
Hum Mol Genet. 2014.
PMID: 24990150
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Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C.
Borck G, et al.
Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20.
Am J Hum Genet. 2011.
PMID: 21255762
Free PMC article.
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A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.
Aslam M, Wajid M, Chahrour MH, Ansar M, Haque S, Pham TL, Santos RP, Yan K, Ahmad W, Leal SM.
Aslam M, et al.
Am J Med Genet A. 2005 Feb 15;133A(1):18-22. doi: 10.1002/ajmg.a.30508.
Am J Med Genet A. 2005.
PMID: 15641023
Free PMC article.
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Characterization of a novel immunoglobulin-like domain containing receptor.
Hauge H, Patzke S, Delabie J, Aasheim HC.
Hauge H, et al.
Biochem Biophys Res Commun. 2004 Oct 22;323(3):970-8. doi: 10.1016/j.bbrc.2004.08.188.
Biochem Biophys Res Commun. 2004.
PMID: 15381095
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