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PCR analysis of Y-chromosome deletions in subfertile men.
Hoefsloot LH, Tuerlings JH, Kremer JA, Meuleman EJ. Hoefsloot LH, et al. Lancet. 1997 May 10;349(9062):1400. doi: 10.1016/s0140-6736(05)63245-x. Lancet. 1997. PMID: 9149730 No abstract available.
DAZLA: an important candidate gene in male subfertility?
Van Golde RJ, Tuerlings JH, Kremer JA, Braat DD, Schoute F, Hoefsloot LH. Van Golde RJ, et al. Among authors: hoefsloot lh. J Assist Reprod Genet. 2001 Jul;18(7):395-9. doi: 10.1023/a:1016678624225. J Assist Reprod Genet. 2001. PMID: 11499325 Free PMC article.
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP. van den Hurk JA, et al. Among authors: hoefsloot lh. Hum Genet. 2003 Aug;113(3):268-75. doi: 10.1007/s00439-003-0970-0. Epub 2003 Jun 25. Hum Genet. 2003. PMID: 12827496
Chromosomal region 11p15 is associated with male factor subfertility.
Gianotten J, van der Veen F, Alders M, Leschot NJ, Tanck MW, Land JA, Kremer JA, Hoefsloot LH, Mannens MM, Lombardi MP, Hoffer MJ. Gianotten J, et al. Among authors: hoefsloot lh. Mol Hum Reprod. 2003 Oct;9(10):587-92. doi: 10.1093/molehr/gag081. Mol Hum Reprod. 2003. PMID: 12970396
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM. Jongmans MC, et al. Among authors: hoefsloot lh. J Med Genet. 2006 Apr;43(4):306-14. doi: 10.1136/jmg.2005.036061. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155193 Free PMC article.
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B. Kalay E, et al. Among authors: hoefsloot lh. Hum Mutat. 2006 Jul;27(7):633-9. doi: 10.1002/humu.20368. Hum Mutat. 2006. PMID: 16752389
174 results