Wittebol-Post D - Search Results

1

Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.

Oosterwijk JC, Nelen M, van Zandvoort PM, van Osch LD, Oranje AP, Wittebol-Post D, van Oost BA. Oosterwijk JC, et al. Am J Hum Genet. 1992 Apr;50(4):801-7. Am J Hum Genet. 1992. PMID: 1550124 Free PMC article.

2

Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family.

Oosterwijk JC, Nelen M, Van Zandvoort PM, Van Osch LD, Oranje AP, Wittebol-Post D, Van Oost BA. Oosterwijk JC, et al. Ophthalmic Paediatr Genet. 1992 Mar;13(1):27-30. doi: 10.3109/13816819209070050. Ophthalmic Paediatr Genet. 1992. PMID: 1350668

3

[Keratosis follicularis spinulosa decalvans (Siemens I syndrome), initial results of molecular genetic research].

Oosterwijk JC, van Osch LD, Wittebol-Post D, Nelen M, van Zandvoort P, Oranje AP, van Oost BA. Oosterwijk JC, et al. Klin Monbl Augenheilkd. 1992 Dec;201(6):412-3. Klin Monbl Augenheilkd. 1992. PMID: 1287362 German. No abstract available.

4

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

Kroes HY, van Zon PH, Fransen van de Putte D, Nelen MR, Nievelstein RJ, Wittebol-Post D, van Nieuwenhuizen O, Mancini GM, van der Knaap MS, Kwee ML, Maas SM, Cobben JM, De Nef JE, Lindhout D, Sinke RJ. Kroes HY, et al. Among authors: wittebol post d. Eur J Med Genet. 2008 Jan-Feb;51(1):24-34. doi: 10.1016/j.ejmg.2007.10.001. Epub 2007 Oct 6. Eur J Med Genet. 2008. PMID: 18054307

5

Von Hippel-Lindau disease: new strategies in early detection and treatment.

Karsdorp N, Elderson A, Wittebol-Post D, Hené RJ, Vos J, Feldberg MA, van Gils AP, Jansen-Schillhorn van Veen JM, Vroom TM, Höppener JW, et al. Karsdorp N, et al. Am J Med. 1994 Aug;97(2):158-68. doi: 10.1016/0002-9343(94)90026-4. Am J Med. 1994. PMID: 8059782 Review.

6

Sutural cataract, retinitis pigmentosa, microcephaly and psychomotor retardation. A new autosomal recessive disorder?

Ippel PF, Wittebol-Post D, van Nesselrooij BP, Bijlsma JB. Ippel PF, et al. Ophthalmic Genet. 1994 Sep-Dec;15(3-4):121-7. doi: 10.3109/13816819409057838. Ophthalmic Genet. 1994. PMID: 7749665

7

The corneal dystrophy of Waardenburg and Jonkers.

Wittebol-Post D, Van Schooneveld MJ, Pels E. Wittebol-Post D, et al. Ophthalmic Paediatr Genet. 1989 Dec;10(4):249-55. doi: 10.3109/13816818909009879. Ophthalmic Paediatr Genet. 1989. PMID: 2628816

8

Genetic heterogeneity of hereditary motor and sensory neuropathy type VI.

Ippel EF, Wittebol-Post D, Jennekens FG, Bijlsma JB. Ippel EF, et al. J Child Neurol. 1995 Nov;10(6):459-63. doi: 10.1177/088307389501000607. J Child Neurol. 1995. PMID: 8576556

9

Cleft lip and cone-rod dystrophy in a consanguineous sibship.

Ausems MG, Wittebol-Post D, Hennekam RC. Ausems MG, et al. Clin Dysmorphol. 1996 Oct;5(4):307-11. Clin Dysmorphol. 1996. PMID: 8905195

10

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.

Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP. Mukhopadhyay A, et al. Among authors: wittebol post d. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3565-72. doi: 10.1167/iovs.06-0141. Invest Ophthalmol Vis Sci. 2006. PMID: 16877430

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