Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

22 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW; DOOFNL Consortium; Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ. Colbert BM, et al. Among authors: de gier hhw. Hum Genet. 2024 May;143(5):721-734. doi: 10.1007/s00439-024-02648-3. Epub 2024 Apr 30. Hum Genet. 2024. PMID: 38691166 Free PMC article.
Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy.
van Gelder CM, van Capelle CI, Ebbink BJ, Moor-van Nugteren I, van den Hout JM, Hakkesteegt MM, van Doorn PA, de Coo IF, Reuser AJ, de Gier HH, van der Ploeg AT. van Gelder CM, et al. J Inherit Metab Dis. 2012 May;35(3):505-11. doi: 10.1007/s10545-011-9404-7. Epub 2011 Oct 19. J Inherit Metab Dis. 2012. PMID: 22008944 Free PMC article.
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Wesdorp M, de Koning Gans PAM, Schraders M, Oostrik J, Huynen MA, Venselaar H, Beynon AJ, van Gaalen J, Piai V, Voermans N, van Rossum MM, Hartel BP, Lelieveld SH, Wiel L, Verbist B, Rotteveel LJ, van Dooren MF, Lichtner P, Kunst HPM, Feenstra I, Admiraal RJC; DOOFNL Consortium; Yntema HG, Hoefsloot LH, Pennings RJE, Kremer H. Wesdorp M, et al. Hum Genet. 2018 May;137(5):389-400. doi: 10.1007/s00439-018-1880-5. Epub 2018 May 12. Hum Genet. 2018. PMID: 29754270 Free PMC article.
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
Wesdorp M, Murillo-Cuesta S, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE; DOOFNL Consortium; Admiraal RJC, Yntema HG, van Wijk E, Del Castillo I, Serra P, Varela-Nieto I, Pennings RJE, Kremer H. Wesdorp M, et al. Am J Hum Genet. 2018 Jul 5;103(1):74-88. doi: 10.1016/j.ajhg.2018.05.011. Epub 2018 Jun 28. Am J Hum Genet. 2018. PMID: 29961571 Free PMC article.
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.
de Bruijn SE, Smits JJ, Liu C, Lanting CP, Beynon AJ, Blankevoort J, Oostrik J, Koole W, de Vrieze E, Cremers CWRJ, Cremers FPM, Roosing S, Yntema HG, Kunst HPM, Zhao B, Pennings RJE, Kremer H; DOOFNL Consortium. de Bruijn SE, et al. J Med Genet. 2020 Jul 6:jmedgenet-2020-106863. doi: 10.1136/jmedgenet-2020-106863. Online ahead of print. J Med Genet. 2020. PMID: 32631815 Free PMC article.
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Smits JJ, de Bruijn SE, Lanting CP, Oostrik J, O'Gorman L, Mantere T; DOOFNL Consortium; Cremers FPM, Roosing S, Yntema HG, de Vrieze E, Derks R, Hoischen A, Pegge SAH, Neveling K, Pennings RJE, Kremer H. Smits JJ, et al. Hum Genet. 2022 Apr;141(3-4):465-484. doi: 10.1007/s00439-021-02336-6. Epub 2021 Aug 19. Hum Genet. 2022. PMID: 34410491 Free PMC article.
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Smits JJ, de Bruijn SE, Lanting CP, Oostrik J, O'Gorman L, Mantere T; DOOFNL Consortium; Cremers FPM, Roosing S, Yntema HG, de Vrieze E, Derks R, Hoischen A, Pegge SAH, Neveling K, Pennings RJE, Kremer H. Smits JJ, et al. Hum Genet. 2022 Apr;141(3-4):991. doi: 10.1007/s00439-021-02377-x. Hum Genet. 2022. PMID: 34608567 Free PMC article. No abstract available.
Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study.
Fehrmann MLA, Huinck WJ, Thijssen MEG, Haer-Wigman L, Yntema HG, Rotteveel LJC, Widdershoven JCC, Goderie T, van Dooren MF, Hoefsloot EH, van der Schroeff MP, Mylanus EAM; DOOFNL consortium; Lanting CP, Pennings RJE. Fehrmann MLA, et al. J Otolaryngol Head Neck Surg. 2023 Dec 15;52(1):82. doi: 10.1186/s40463-023-00680-3. J Otolaryngol Head Neck Surg. 2023. PMID: 38102706 Free PMC article.
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
Velde HM, Vaseghi-Shanjani M, Smits JJ, Ramakrishnan G, Oostrik J, Wesdorp M, Astuti G, Yntema HG, Hoefsloot L, Lanting CP, Huynen MA, Lehman A, Turvey SE; DOOFNL Consortium; Pennings RJE, Kremer H. Velde HM, et al. Hum Genet. 2024 Nov;143(11):1379-1399. doi: 10.1007/s00439-024-02706-w. Epub 2024 Oct 16. Hum Genet. 2024. PMID: 39406892 Free PMC article.
22 results