van Dorp DB - Search Results

1

Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.

Kluijt I, van Dorp DB, Kwee ML, Toutain A, Keppler-Noreuil K, Warburg M, Bitoun P. Kluijt I, et al. Among authors: van dorp db. Ophthalmic Genet. 2000 Mar;21(1):51-61. Ophthalmic Genet. 2000. PMID: 10779849 Review.

2

Tuberous sclerosis. Diagnostic problems in a family.

van Dorp DB, Kwee ML. van Dorp DB, et al. Ophthalmic Paediatr Genet. 1990 Jun;11(2):95-101. doi: 10.3109/13816819009012953. Ophthalmic Paediatr Genet. 1990. PMID: 2377357

3

Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship.

van Dorp DB, Palan A, Kwee ML, Barth PG, van der Harten JJ. van Dorp DB, et al. Am J Med Genet. 1991 Jul 1;40(1):100-4. doi: 10.1002/ajmg.1320400121. Am J Med Genet. 1991. PMID: 1887836 Review.

4

The Hermansky-Pudlak syndrome. Variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time.

Van Dorp DB, Wijermans PW, Meire F, Vrensen G. Van Dorp DB, et al. Ophthalmic Paediatr Genet. 1990 Sep;11(3):237-44. doi: 10.3109/13816819009020985. Ophthalmic Paediatr Genet. 1990. PMID: 2126369

5

Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis.

Bergen AA, Samanns C, Van Dorp DB, Ferguson-Smith MA, Gal A, Bleeker-Wagemakers EM. Bergen AA, et al. Among authors: van dorp db. Ophthalmic Paediatr Genet. 1990 Sep;11(3):165-70. doi: 10.3109/13816819009020975. Ophthalmic Paediatr Genet. 1990. PMID: 2280973

6

Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis.

Bergen AA, Schuurman EJ, van den Born LI, Samanns C, van Dorp DB, Pinckers AJ, Bakker E, van Ommen GJ, Gal A, Bleeker-Wagemakers EM. Bergen AA, et al. Among authors: van dorp db. Clin Genet. 1992 Mar;41(3):135-8. doi: 10.1111/j.1399-0004.1992.tb03649.x. Clin Genet. 1992. PMID: 1348665

7

Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.

Bergen AA, Samanns C, Schuurman EJ, van Osch L, van Dorp DB, Pinckers AJ, Bakker E, Gal A, van Ommen GJ, Bleeker-Wagemakers EM. Bergen AA, et al. Among authors: van dorp db. Hum Genet. 1991 Dec;88(2):162-6. doi: 10.1007/BF00206065. Hum Genet. 1991. PMID: 1684563

8

A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities.

van Dorp DB, Wright AF, Carothers AD, Bleeker-Wagemakers EM. van Dorp DB, et al. Hum Genet. 1992 Jan;88(3):331-4. doi: 10.1007/BF00197269. Hum Genet. 1992. PMID: 1733835

9

Hermansky-Pudlak syndrome: correction of bleeding time by 1-desamino-8D-arginine vasopressin.

Wijermans PW, van Dorp DB. Wijermans PW, et al. Among authors: van dorp db. Am J Hematol. 1989 Mar;30(3):154-7. doi: 10.1002/ajh.2830300307. Am J Hematol. 1989. PMID: 2916560

10

Fluorescein angiography in potential carriers for choroideremia. An additional aid for final diagnosis, when funduscopy shows equivocal symptoms.

van Dorp DB, van Balen AT. van Dorp DB, et al. Among authors: van balen at. Ophthalmic Paediatr Genet. 1985 Feb;5(1-2):25-30. doi: 10.3109/13816818509007852. Ophthalmic Paediatr Genet. 1985. PMID: 4058868

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