Hofrichter MAH - Search Results

1

Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss.

Hofrichter MAH, Doll J, Habibi H, Enayati S, Vahidi Mehrjardi MY, Müller T, Dittrich M, Haaf T, Vona B. Hofrichter MAH, et al. Eur J Med Genet. 2019 Oct;62(10):103724. doi: 10.1016/j.ejmg.2019.103724. Epub 2019 Jul 14. Eur J Med Genet. 2019. PMID: 31315069 Free article.

2

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.

Hofrichter MAH, Mojarad M, Doll J, Grimm C, Eslahi A, Hosseini NS, Rajati M, Müller T, Dittrich M, Maroofian R, Haaf T, Vona B. Hofrichter MAH, et al. BMC Med Genet. 2018 May 18;19(1):81. doi: 10.1186/s12881-018-0598-5. BMC Med Genet. 2018. PMID: 29776397 Free PMC article.

3

Hereditary hearing loss SNP-microarray pilot study.

Vona B, Hofrichter MAH, Schröder J, Shehata-Dieler W, Nanda I, Haaf T. Vona B, et al. Among authors: hofrichter mah. BMC Res Notes. 2018 Jun 14;11(1):391. doi: 10.1186/s13104-018-3466-7. BMC Res Notes. 2018. PMID: 29903040 Free PMC article.

4

Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.

Doll J, Kolb S, Schnapp L, Rad A, Rüschendorf F, Khan I, Adli A, Hasanzadeh A, Liedtke D, Knaup S, Hofrichter MA, Müller T, Dittrich M, Kong IK, Kim HG, Haaf T, Vona B. Doll J, et al. Int J Mol Sci. 2020 Jan 2;21(1):311. doi: 10.3390/ijms21010311. Int J Mol Sci. 2020. PMID: 31906439 Free PMC article.

5

A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.

Doll J, Hofrichter MAH, Bahena P, Heihoff A, Segebarth D, Müller T, Dittrich M, Haaf T, Vona B. Doll J, et al. Among authors: hofrichter mah. Mol Genet Genomic Med. 2020 Aug;8(8):e1343. doi: 10.1002/mgg3.1343. Epub 2020 Jun 10. Mol Genet Genomic Med. 2020. PMID: 32519820 Free PMC article.

6

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.

Doll J, Vona B, Schnapp L, Rüschendorf F, Khan I, Khan S, Muhammad N, Alam Khan S, Nawaz H, Khan A, Ahmad N, Kolb SM, Kühlewein L, Labonne JDJ, Layman LC, Hofrichter MAH, Röder T, Dittrich M, Müller T, Graves TD, Kong IK, Nanda I, Kim HG, Haaf T. Doll J, et al. Among authors: hofrichter mah. Genes (Basel). 2020 Nov 11;11(11):1329. doi: 10.3390/genes11111329. Genes (Basel). 2020. PMID: 33187236 Free PMC article.

7

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. Vona B, et al. Clin Genet. 2015;87(1):49-55. doi: 10.1111/cge.12332. Epub 2014 Jan 21. Clin Genet. 2015. PMID: 26011646 Free PMC article.

8

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

Vona B, Müller T, Nanda I, Neuner C, Hofrichter MA, Schröder J, Bartsch O, Läßig A, Keilmann A, Schraven S, Kraus F, Shehata-Dieler W, Haaf T. Vona B, et al. Genet Med. 2014 Dec;16(12):945-53. doi: 10.1038/gim.2014.65. Epub 2014 May 29. Genet Med. 2014. PMID: 24875298 Free PMC article.

9

Non-syndromic hearing loss gene identification: A brief history and glimpse into the future.

Vona B, Nanda I, Hofrichter MA, Shehata-Dieler W, Haaf T. Vona B, et al. Mol Cell Probes. 2015 Oct;29(5):260-70. doi: 10.1016/j.mcp.2015.03.008. Epub 2015 Apr 3. Mol Cell Probes. 2015. PMID: 25845345 Free article. Review.

10

A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment.

Hofrichter MA, Nanda I, Gräf J, Schröder J, Shehata-Dieler W, Vona B, Haaf T. Hofrichter MA, et al. Mol Syndromol. 2015 Oct;6(4):156-63. doi: 10.1159/000439576. Epub 2015 Sep 3. Mol Syndromol. 2015. PMID: 26648831 Free PMC article.

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