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Items: 18

1.

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJ, Pennings RJ, Kunst HP, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PA, Kant SG, de Geus CM, Frints SG, Vanhoutte EK, van Dooren MF, van den Boogaard MH, Scheffer H, Nelen M, Kremer H, Hoefsloot L, Schraders M, Yntema HG.

Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21.

2.

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.

Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI.

Ann Otol Rhinol Laryngol. 2016 Nov;125(11):918-923. Epub 2016 Jul 28.

3.

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.

Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G.

Hum Mutat. 2016 Aug;37(8):812-9. doi: 10.1002/humu.22999. Epub 2016 May 6.

PMID:
27068579
4.

Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss.

Sagong B, Baek JI, Bok J, Lee KY, Kim UK.

Int J Pediatr Otorhinolaryngol. 2016 Jan;80:78-81. doi: 10.1016/j.ijporl.2015.11.018. Epub 2015 Nov 23.

PMID:
26746617
5.

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.

Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T.

Clin Genet. 2015;87(1):49-55. doi: 10.1111/cge.12332. Epub 2014 Jan 21.

6.

Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.

Haraksingh RR, Jahanbani F, Rodriguez-Paris J, Gelernter J, Nadeau KC, Oghalai JS, Schrijver I, Snyder MP.

BMC Genomics. 2014 Dec 20;15:1155. doi: 10.1186/1471-2164-15-1155.

7.

Differential expression and clinical significance of glioblastoma mRNA expression profiles in Uyghur and Han patients in Xinjiang province.

Liu L, Li W, Xia H, Zhu Z, Luan X.

Med Sci Monit. 2014 Nov 24;20:2404-13. doi: 10.12659/MSM.892519.

8.

Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.

Mandelker D, Amr SS, Pugh T, Gowrisankar S, Shakhbatyan R, Duffy E, Bowser M, Harrison B, Lafferty K, Mahanta L, Rehm HL, Funke BH.

J Mol Diagn. 2014 Nov;16(6):639-47. doi: 10.1016/j.jmoldx.2014.06.003. Epub 2014 Aug 23.

PMID:
25157971
9.

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

Bademci G, Diaz-Horta O, Guo S, Duman D, Van Booven D, Foster J 2nd, Cengiz FB, Blanton S, Tekin M.

Genet Test Mol Biomarkers. 2014 Sep;18(9):658-61. doi: 10.1089/gtmb.2014.0121. Epub 2014 Jul 25.

10.

Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.

Gu X, Guo L, Ji H, Sun S, Chai R, Wang L, Li H.

Clin Genet. 2015 Jun;87(6):588-93. doi: 10.1111/cge.12431. Epub 2014 Aug 7.

PMID:
24853665
11.

Chromosome microarray analysis: a case report of infertile brothers with CATSPER gene deletion.

Jaiswal D, Singh V, Dwivedi US, Trivedi S, Singh K.

Gene. 2014 Jun 1;542(2):263-5. doi: 10.1016/j.gene.2014.03.055. Epub 2014 Mar 29.

PMID:
24690399
12.

Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.

Choi BY, Park G, Gim J, Kim AR, Kim BJ, Kim HS, Park JH, Park T, Oh SH, Han KH, Park WY.

PLoS One. 2013 Aug 22;8(8):e68692. doi: 10.1371/journal.pone.0068692. eCollection 2013.

13.

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment.

Bonnet C, Louha M, Loundon N, Michalski N, Verpy E, Smagghe L, Hardelin JP, Rouillon I, Jonard L, Couderc R, Gherbi S, Garabedian EN, Denoyelle F, Petit C, Marlin S.

Gene. 2013 Sep 25;527(2):537-40. doi: 10.1016/j.gene.2013.06.044. Epub 2013 Jul 11.

PMID:
23850727
14.

Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.

Yeh E, Fanganiello RD, Sunaga DY, Zhou X, Holmes G, Rocha KM, Alonso N, Matushita H, Wang Y, Jabs EW, Passos-Bueno MR.

PLoS One. 2013 Apr 4;8(4):e60439. doi: 10.1371/journal.pone.0060439. Print 2013.

15.

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.

Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, Hakonarson H, Jalas C, Landau C, Spinner NB, Kenna M, Sagi M, Rehm HL, Krantz ID.

Am J Med Genet A. 2012 Feb;158A(2):298-308. doi: 10.1002/ajmg.a.34391. Epub 2011 Dec 6.

16.

Hematopoietic activity of human short-term repopulating cells in mobilized peripheral blood cell transplants is restricted to the first 5 months after transplantation.

Zavidij O, Ball CR, Herbst F, Fessler S, Schmidt M, von Kalle C, Glimm H.

Blood. 2010 Jun 17;115(24):5023-5. doi: 10.1182/blood-2010-02-271528. Epub 2010 Apr 9.

17.

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.

Knijnenburg J, Oberstein SA, Frei K, Lucas T, Gijsbers AC, Ruivenkamp CA, Tanke HJ, Szuhai K.

J Med Genet. 2009 Jun;46(6):412-7. doi: 10.1136/jmg.2008.063685. Epub 2009 Feb 25.

PMID:
19246478
18.

Mesothelin, Stereocilin, and Otoancorin are predicted to have superhelical structures with ARM-type repeats.

Sathyanarayana BK, Hahn Y, Patankar MS, Pastan I, Lee B.

BMC Struct Biol. 2009 Jan 7;9:1. doi: 10.1186/1472-6807-9-1.

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