Willems PJ - Search Results

1

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.

Verhoeven K, Ensink RJ, Tiranti V, Huygen PL, Johnson DF, Schatteman I, Van Laer L, Verstreken M, Van de Heyning P, Fischel-Ghodsian N, Zeviani M, Cremers CW, Willems PJ, Van Camp G. Verhoeven K, et al. Among authors: willems pj. Eur J Hum Genet. 1999 Jan;7(1):45-51. doi: 10.1038/sj.ejhg.5200247. Eur J Hum Genet. 1999. PMID: 10094190

2

Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea.

Van Laer L, Van Camp G, van Zuijlen D, Green ED, Verstreken M, Schatteman I, Van de Heyning P, Balemans W, Coucke P, Greinwald JH, Smith RJ, Huizing E, Willems P. Van Laer L, et al. Eur J Hum Genet. 1997 Nov-Dec;5(6):397-405. Eur J Hum Genet. 1997. PMID: 9450185

3

Nonsyndromic hearing impairment: unparalleled heterogeneity.

Van Camp G, Willems PJ, Smith RJ. Van Camp G, et al. Among authors: willems pj. Am J Hum Genet. 1997 Apr;60(4):758-64. Am J Hum Genet. 1997. PMID: 9106521 Free PMC article. Review. No abstract available.

4

A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.

Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ. Verhoeven K, et al. Among authors: willems pj. Am J Hum Genet. 1997 May;60(5):1168-73. Am J Hum Genet. 1997. PMID: 9150164 Free PMC article.

5

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.

Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G. Verhoeven K, et al. Among authors: willems pj. Nat Genet. 1998 May;19(1):60-2. doi: 10.1038/ng0598-60. Nat Genet. 1998. PMID: 9590290

6

Nonsyndromic hearing impairment is associated with a mutation in DFNA5.

Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt WT, Smith RJ, Willems PJ, Legan PK, Richardson GP, Van Camp G. Van Laer L, et al. Among authors: willems pj. Nat Genet. 1998 Oct;20(2):194-7. doi: 10.1038/2503. Nat Genet. 1998. PMID: 9771715

7

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt WT, Smith RJ, Cremers CW, Van de Heyning P, Willems PJ, Smith SD, Van Camp G. Coucke PJ, et al. Among authors: willems pj. Hum Mol Genet. 1999 Jul;8(7):1321-8. doi: 10.1093/hmg/8.7.1321. Hum Mol Genet. 1999. PMID: 10369879

8

A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.

Van Camp G, Kunst H, Flothmann K, McGuirt W, Wauters J, Marres H, Verstreken M, Bespalova IN, Burmeister M, Van de Heyning PH, Smith RJ, Willems PJ, Cremers CW, Lesperance MM. Van Camp G, et al. Among authors: willems pj. J Med Genet. 1999 Jul;36(7):532-6. J Med Genet. 1999. PMID: 10424813 Free PMC article.

9

Clinical presentation of DFNA8-DFNA12.

Govaerts PJ, De Ceulaer G, Daemers K, Verhoeven K, Van Camp G, Schatteman I, Verstreken M, Willems PJ, Somers T, Offeciers FE. Govaerts PJ, et al. Among authors: willems pj. Adv Otorhinolaryngol. 2002;61:60-5. doi: 10.1159/000066805. Adv Otorhinolaryngol. 2002. PMID: 12408064 No abstract available.

10

CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.

Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ. Fransen E, et al. Among authors: willems pj. Eur J Hum Genet. 1995;3(5):273-84. doi: 10.1159/000472311. Eur J Hum Genet. 1995. PMID: 8556302 Review.

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