Begeer JH - Search Results

1

An atypical case of Fanconi anemia in elderly sibs.

Kwee ML, van der Kleij JM, van Essen AJ, Begeer JH, Joenje H, Arwert F, ten Kate LP. Kwee ML, et al. Among authors: begeer jh. Am J Med Genet. 1997 Jan 31;68(3):362-6. Am J Med Genet. 1997. PMID: 9024573

2

Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.

Begeer JH, Scholte FA, van Essen AJ. Begeer JH, et al. J Med Genet. 1991 Dec;28(12):884-5. doi: 10.1136/jmg.28.12.884. J Med Genet. 1991. PMID: 1661780 Free PMC article. Review.

3

Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism.

Scholte FA, Begeer JH, van Essen AJ. Scholte FA, et al. Among authors: begeer jh. J Med Genet. 1991 Feb;28(2):140-2. doi: 10.1136/jmg.28.2.140. J Med Genet. 1991. PMID: 2002488 Free PMC article.

4

Apparent SMA I unlinked to 5q.

Cobben JM, Scheffer H, de Visser M, Begeer JH, Molenaar WM, van der Steege G, Buys CH, van Ommen GJ, Ten Kate LP. Cobben JM, et al. Among authors: begeer jh. J Med Genet. 1994 Mar;31(3):242-4. doi: 10.1136/jmg.31.3.242. J Med Genet. 1994. PMID: 8014975 Free PMC article.

5

11q- syndrome: three cases and a review of the literature.

Leegte B, Kerstjens-Frederikse WS, Deelstra K, Begeer JH, van Essen AJ. Leegte B, et al. Among authors: begeer jh. Genet Couns. 1999;10(3):305-13. Genet Couns. 1999. PMID: 10546104 Review.

6

Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation.

de Vries D, de Wijs I, Ruitenbeek W, Begeer J, Smit P, Bentlage H, van Oost B. de Vries D, et al. J Neurol Sci. 1994 Jun;124(1):77-82. doi: 10.1016/0022-510x(94)90014-0. J Neurol Sci. 1994. PMID: 7931425

7

A new leukoencephalopathy with vanishing white matter.

van der Knaap MS, Barth PG, Gabreëls FJ, Franzoni E, Begeer JH, Stroink H, Rotteveel JJ, Valk J. van der Knaap MS, et al. Among authors: begeer jh. Neurology. 1997 Apr;48(4):845-55. doi: 10.1212/wnl.48.4.845. Neurology. 1997. PMID: 9109866 Free article.

8

[Prevention of neurological involvement as a sequela of an atlanto-axial dislocation in persons with Down syndrome].

Scholte FA, Begeer JH, van den Burg W. Scholte FA, et al. Among authors: begeer jh. Ned Tijdschr Geneeskd. 1990 May 19;134(20):1016. Ned Tijdschr Geneeskd. 1990. PMID: 2140874 Dutch. No abstract available.

9

[Prevention of neurological involvement as sequela of an atlanto-axial dislocation in persons with Down syndrome].

Begeer JH, Scholte FA, van den Burg W. Begeer JH, et al. Ned Tijdschr Geneeskd. 1990 May 12;134(19):971-2. Ned Tijdschr Geneeskd. 1990. PMID: 2140873 Dutch. No abstract available.

10

Acute cerebellar ataxia in a child with transient pontine lesions demonstrated by MRI.

Groen RJ, Begeer JH, Wilmink JT, le Coultre R. Groen RJ, et al. Among authors: begeer jh. Neuropediatrics. 1991 Nov;22(4):225-7. doi: 10.1055/s-2008-1071446. Neuropediatrics. 1991. PMID: 1775220

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