Hoefsloot LH - Search Results

1

Phenotype description of a novel DFNA9/COCH mutation, I109T.

Pauw RJ, Huygen PL, Collin RW, Cruysberg JR, Hoefsloot LH, Kremer H, Cremers CW. Pauw RJ, et al. Among authors: hoefsloot lh. Ann Otol Rhinol Laryngol. 2007 May;116(5):349-57. doi: 10.1177/000348940711600506. Ann Otol Rhinol Laryngol. 2007. PMID: 17561763

2

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.

Nelen MR, Kremer H, Konings IB, Schoute F, van Essen AJ, Koch R, Woods CG, Fryns JP, Hamel B, Hoefsloot LH, Peeters EA, Padberg GW. Nelen MR, et al. Among authors: hoefsloot lh. Eur J Hum Genet. 1999 Apr;7(3):267-73. doi: 10.1038/sj.ejhg.5200289. Eur J Hum Genet. 1999. PMID: 10234502

3

[From gene to disease: deafness and connexin 26].

Hoefsloot LH, Kemperman M, Cremers CW. Hoefsloot LH, et al. Ned Tijdschr Geneeskd. 2002 Feb 9;146(6):259-61. Ned Tijdschr Geneeskd. 2002. PMID: 11865655 Dutch.

4

Hearing loss and connexin 26.

Kemperman MH, Hoefsloot LH, Cremers CW. Kemperman MH, et al. Among authors: hoefsloot lh. J R Soc Med. 2002 Apr;95(4):171-7. doi: 10.1177/014107680209500403. J R Soc Med. 2002. PMID: 11934905 Free PMC article. Review. No abstract available.

5

Clinical report on the L95P mutation in a Dutch family with paraganglioma.

Cremers CW, De Mönnink JP, Arts N, Joosten FB, Kremer H, Hoefsloot L. Cremers CW, et al. Otol Neurotol. 2002 Sep;23(5):755-9. doi: 10.1097/00129492-200209000-00024. Otol Neurotol. 2002. PMID: 12218630

6

Molecular diagnosis of hereditary hearing impairment.

Kremer H, Hoefsloot LH. Kremer H, et al. Among authors: hoefsloot lh. Adv Otorhinolaryngol. 2002;61:11-27. doi: 10.1159/000066799. Adv Otorhinolaryngol. 2002. PMID: 12408058 Review. No abstract available.

7

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H. de Brouwer AP, et al. Among authors: hoefsloot lh. Hum Genet. 2003 Feb;112(2):156-63. doi: 10.1007/s00439-002-0833-0. Epub 2002 Oct 29. Hum Genet. 2003. PMID: 12522556

8

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: hoefsloot lh. 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.

9

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

Pennings RJ, Te Brinke H, Weston MD, Claassen A, Orten DJ, Weekamp H, Van Aarem A, Huygen PL, Deutman AF, Hoefsloot LH, Cremers FP, Cremers CW, Kimberling WJ, Kremer H. Pennings RJ, et al. Among authors: hoefsloot lh. Hum Mutat. 2004 Aug;24(2):185. doi: 10.1002/humu.9259. Hum Mutat. 2004. PMID: 15241801

10

Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations.

Stinckens C, Kremer H, van Wijk E, Hoefsloot LH, Huygen PL, Standaert L, Fryns JP, Cremers CW. Stinckens C, et al. Among authors: hoefsloot lh. Ann Otol Rhinol Laryngol. 2004 Jul;113(7):587-93. doi: 10.1177/000348940411300714. Ann Otol Rhinol Laryngol. 2004. PMID: 15274422

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