This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Email citation

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

. 2001 Jun 15;101(2):181-3.

doi: 10.1002/ajmg.1335.

From DFNB2 to Usher syndrome: variable expressivity of the same disease

Z B Zina, S Masmoudi, H Ayadi, F Chaker, A M Ghorbel, M Drira, C Petit

PMID: 11391666
DOI: 10.1002/ajmg.1335

From DFNB2 to Usher syndrome: variable expressivity of the same disease

Z B Zina et al. Am J Med Genet. 2001.

. 2001 Jun 15;101(2):181-3.

doi: 10.1002/ajmg.1335.

Authors

Z B Zina, S Masmoudi, H Ayadi, F Chaker, A M Ghorbel, M Drira, C Petit

PMID: 11391666
DOI: 10.1002/ajmg.1335

No abstract available

PubMed Disclaimer

Similar articles

Identification of three novel mutations in the MYO7A gene.
Cuevas JM, Espinós C, Millán JM, Sánchez F, Trujillo MJ, Ayuso C, Beneyto M, Nájera C. Cuevas JM, et al. Hum Mutat. 1999 Aug 19;14(2):181. doi: 10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU11>3.0.CO;2-3. Hum Mutat. 1999. PMID: 10447383
The clinical presentation of DFNB2.
Liu XZ. Liu XZ. Adv Otorhinolaryngol. 2002;61:120-3. doi: 10.1159/000066823. Adv Otorhinolaryngol. 2002. PMID: 12408073 No abstract available.
Novel mutations in MYO7A and USH2A in Usher syndrome.
Maubaret C, Griffoin JM, Arnaud B, Hamel C. Maubaret C, et al. Ophthalmic Genet. 2005 Mar;26(1):25-9. doi: 10.1080/13816810590918118. Ophthalmic Genet. 2005. PMID: 15823922
Sensorineural hearing impairment: non-syndromic, recessive DFNB2.
Liu XZ, Brown SD. Liu XZ, et al. Adv Otorhinolaryngol. 2000;56:124-30. doi: 10.1159/000059093. Adv Otorhinolaryngol. 2000. PMID: 10868224 Review. No abstract available.
Molecular genetics of Usher syndrome.
Eudy JD, Sumegi J. Eudy JD, et al. Cell Mol Life Sci. 1999 Oct 15;56(3-4):258-67. doi: 10.1007/s000180050427. Cell Mol Life Sci. 1999. PMID: 11212353 Free PMC article. Review.

See all similar articles

Cited by

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.
Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, Bahlo M, Smith RJ. Hildebrand MS, et al. Clin Genet. 2010 Jun;77(6):563-71. doi: 10.1111/j.1399-0004.2009.01344.x. Epub 2010 Feb 4. Clin Genet. 2010. PMID: 20132242 Free PMC article.
Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.
Wafa TT, Faridi R, King KA, Zalewski C, Yousaf R, Schultz JM, Morell RJ, Muskett J, Turriff A, Tsilou E, Griffith AJ, Friedman TB, Zein WM, Brewer CC. Wafa TT, et al. Clin Genet. 2021 Feb;99(2):226-235. doi: 10.1111/cge.13868. Epub 2020 Nov 3. Clin Genet. 2021. PMID: 33089500 Free PMC article.
Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature.
Xia CF, Yan R, Su WW, Liu YH. Xia CF, et al. World J Clin Cases. 2023 Sep 6;11(25):5962-5969. doi: 10.12998/wjcc.v11.i25.5962. World J Clin Cases. 2023. PMID: 37727480 Free PMC article.
Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.
Kabahuma RI, Schubert WD, Labuschagne C, Yan D, Blanton SH, Pepper MS, Liu XZ. Kabahuma RI, et al. Genes (Basel). 2021 Feb 15;12(2):274. doi: 10.3390/genes12020274. Genes (Basel). 2021. PMID: 33671976 Free PMC article.
The genetic bases for non-syndromic hearing loss among Chinese.
Ouyang XM, Yan D, Yuan HJ, Pu D, Du LL, Han DY, Liu XZ. Ouyang XM, et al. J Hum Genet. 2009 Mar;54(3):131-40. doi: 10.1038/jhg.2009.4. Epub 2009 Feb 6. J Hum Genet. 2009. PMID: 19197336 Free PMC article. Review.

See all "Cited by" articles

Publication types

Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
- Wiley
Molecular Biology Databases
- The Weizmann Institute of Science GeneCards and MalaCards databases