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Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Velde HM, Reurink J, Held S, Li CHZ, Yzer S, Oostrik J, Weeda J, Haer-Wigman L, Yntema HG, Roosing S, Pauleikhoff L, Lange C, Whelan L, Dockery A, Zhu J, Keegan DJ, Farrar GJ, Kremer H, Lanting CP, Damme M, Pennings RJE. Velde HM, et al. Among authors: yntema hg. Hum Genet. 2022 Nov;141(11):1723-1738. doi: 10.1007/s00439-022-02441-0. Epub 2022 Feb 28. Hum Genet. 2022. PMID: 35226187 Free PMC article.
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H. van Wijk E, et al. Among authors: yntema hg. Am J Hum Genet. 2004 Apr;74(4):738-44. doi: 10.1086/383096. Epub 2004 Mar 10. Am J Hum Genet. 2004. PMID: 15015129 Free PMC article.
Mutations in the human TBX4 gene cause small patella syndrome.
Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. Bongers EM, et al. Among authors: yntema hg. Am J Hum Genet. 2004 Jun;74(6):1239-48. doi: 10.1086/421331. Epub 2004 Apr 21. Am J Hum Genet. 2004. PMID: 15106123 Free PMC article.
Mutations in MED12 cause X-linked Ohdo syndrome.
Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP. Vulto-van Silfhout AT, et al. Among authors: yntema hg. Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7. Am J Hum Genet. 2013. PMID: 23395478 Free PMC article.
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Beunders G, de Munnik SA, Van der Aa N, Ceulemans B, Voorhoeve E, Groffen AJ, Nillesen WM, Meijers-Heijboer EJ, Frank Kooy R, Yntema HG, Sistermans EA. Beunders G, et al. Among authors: yntema hg. Eur J Hum Genet. 2015 Jun;23(6):803-7. doi: 10.1038/ejhg.2014.173. Epub 2014 Sep 10. Eur J Hum Genet. 2015. PMID: 25205402 Free PMC article.
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.
Seco CZ, Giese AP, Shafique S, Schraders M, Oonk AM, Grossheim M, Oostrik J, Strom T, Hegde R, van Wijk E, Frolenkov GI, Azam M, Yntema HG, Free RH, Riazuddin S, Verheij JB, Admiraal RJ, Qamar R, Ahmed ZM, Kremer H. Seco CZ, et al. Among authors: yntema hg. Eur J Hum Genet. 2016 Apr;24(4):542-9. doi: 10.1038/ejhg.2015.157. Epub 2015 Jul 15. Eur J Hum Genet. 2016. PMID: 26173970 Free PMC article.
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
Zazo Seco C, Serrão de Castro L, van Nierop JW, Morín M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J; Baylor-Hopkins Center for Mendelian Genomics; van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vásquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H. Zazo Seco C, et al. Among authors: yntema hg. Am J Hum Genet. 2015 Nov 5;97(5):647-60. doi: 10.1016/j.ajhg.2015.09.011. Epub 2015 Oct 29. Am J Hum Genet. 2015. PMID: 26522471 Free PMC article.
158 results