van Schooneveld MJ - Search Results

1

Further delineation of the acro-renal-ocular syndrome.

Aalfs CM, van Schooneveld MJ, van Keulen EM, Hennekam RC. Aalfs CM, et al. Among authors: van schooneveld mj, van keulen em. Am J Med Genet. 1996 Mar 29;62(3):276-81. doi: 10.1002/(SICI)1096-8628(19960329)62:3<276::AID-AJMG14>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8882787

2

Late onset dominant cone dystrophy with early blue cone involvement.

Went LN, van Schooneveld MJ, Oosterhuis JA. Went LN, et al. Among authors: van schooneveld mj. J Med Genet. 1992 May;29(5):295-8. doi: 10.1136/jmg.29.5.295. J Med Genet. 1992. PMID: 1583655 Free PMC article.

3

Rieger's eye anomaly and persistent hyperplastic primary vitreous.

Storimans CW, Van Schooneveld MJ. Storimans CW, et al. Among authors: van schooneveld mj. Ophthalmic Paediatr Genet. 1989 Dec;10(4):257-62. doi: 10.3109/13816818909009880. Ophthalmic Paediatr Genet. 1989. PMID: 2628817

4

The Peters'-Plus syndrome: description of 16 patients and review of the literature.

Hennekam RC, Van Schooneveld MJ, Ardinger HH, Van Den Boogaard MJ, Friedburg D, Rudnik-Schoneborn S, Seguin JH, Weatherstone KB, Wittebol-Post D, Meinecke P. Hennekam RC, et al. Among authors: van schooneveld mj, van den boogaard mj. Clin Dysmorphol. 1993 Oct;2(4):283-300. Clin Dysmorphol. 1993. PMID: 7508316 Review.

5

Refinement of the chromosomal position of the X linked juvenile retinoschisis gene.

Bergen AA, ten Brink JB, Bleeker-Wagemakers LM, van Schooneveld MJ. Bergen AA, et al. Among authors: van schooneveld mj. J Med Genet. 1994 Dec;31(12):972-5. doi: 10.1136/jmg.31.12.972. J Med Genet. 1994. PMID: 7891384 Free PMC article.

6

Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?

Aalfs CM, Oosterwijk JC, van Schooneveld MJ, Begeman CJ, Wabeke KB, Hennekam RC. Aalfs CM, et al. Among authors: van schooneveld mj. Clin Dysmorphol. 1996 Apr;5(2):93-103. doi: 10.1097/00019605-199604000-00001. Clin Dysmorphol. 1996. PMID: 8723559

7

Golden tapetal reflex in male patients with X-linked retinitis pigmentosa. Case report and practical implications.

van Osch L, van Schooneveld M, Bleekerwagemakers EM. van Osch L, et al. Ophthalmic Paediatr Genet. 1990 Dec;11(4):287-91. doi: 10.3109/13816819009015715. Ophthalmic Paediatr Genet. 1990. PMID: 2096357

8

Thr4Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch family.

van den Born LI, van Schooneveld MJ, de Jong LA, Riemslag FC, de Jong PT, Gal A, Bleeker-Wagemakers EM. van den Born LI, et al. Among authors: van schooneveld mj. Ophthalmic Genet. 1994 Jun;15(2):51-60. doi: 10.3109/13816819409098864. Ophthalmic Genet. 1994. PMID: 7850269

9

Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium.

van den Born LI, van Soest S, van Schooneveld MJ, Riemslag FC, de Jong PT, Bleeker-Wagemakers EM. van den Born LI, et al. Among authors: van schooneveld mj, van soest s. Am J Ophthalmol. 1994 Oct 15;118(4):430-9. doi: 10.1016/s0002-9394(14)75792-7. Am J Ophthalmol. 1994. PMID: 7943119

10

A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1).

Bassi MT, Bergen AA, Wapenaar MC, Schiaffino MV, van Schooneveld M, Yates JR, Charles SJ, Meitinger T, Ballabio A. Bassi MT, et al. Hum Mol Genet. 1994 Apr;3(4):647-8. doi: 10.1093/hmg/3.4.647. Hum Mol Genet. 1994. PMID: 8069311 No abstract available.

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