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

Year Number of Results
1990 1
1991 3
1992 2
1993 1
1994 2
1995 2
1996 1
1997 1
1999 3
2000 3
2001 4
2002 7
2003 9
2004 6
2005 5
2006 4
2007 5
2008 7
2009 5
2010 2
2011 5
2012 4
2013 3
2014 3
2015 3
2016 1
2017 1
2018 1
2019 2
2020 1
2021 3
2022 5
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97 results
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Page 1
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group. Shen J, et al. Among authors: del castillo i. Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4. Genet Med. 2019. PMID: 31160754 Free PMC article.
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Among authors: del castillo i. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
Genetics of Hearing Impairment.
Kremer H, Del Castillo I. Kremer H, et al. Among authors: del castillo i. Genes (Basel). 2022 May 11;13(5):852. doi: 10.3390/genes13050852. Genes (Basel). 2022. PMID: 35627237 Free PMC article.
Genetics of deafness.
Sartorato EL, Friderici K, Del Castillo I. Sartorato EL, et al. Among authors: del castillo i. Genet Res Int. 2012;2012:562848. doi: 10.1155/2012/562848. Epub 2012 Apr 18. Genet Res Int. 2012. PMID: 22567392 Free PMC article. No abstract available.
Genetics of isolated auditory neuropathies.
Del Castillo FJ, Del Castillo I. Del Castillo FJ, et al. Among authors: del castillo i. Front Biosci (Landmark Ed). 2012 Jan 1;17(4):1251-65. doi: 10.2741/3984. Front Biosci (Landmark Ed). 2012. PMID: 22201801 Free article. Review.
97 results