Sistermans EA - Search Results

1

Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations.

Hundscheid RD, Sistermans EA, Thomas CM, Braat DD, Straatman H, Kiemeney LA, Oostra BA, Smits AP. Hundscheid RD, et al. Among authors: sistermans ea. Am J Hum Genet. 2000 Feb;66(2):413-8. doi: 10.1086/302774. Am J Hum Genet. 2000. PMID: 10677300 Free PMC article.

2

Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.

Clayton PT, Verrips A, Sistermans E, Mann A, Mieli-Vergani G, Wevers R. Clayton PT, et al. J Inherit Metab Dis. 2002 Oct;25(6):501-13. doi: 10.1023/a:1021211520034. J Inherit Metab Dis. 2002. PMID: 12555943

3

Presenile cataract: consider cholestanol.

Tészás A, Pfund Z, Morava E, Kosztolányi G, Sistermans E, Wevers RA, Kellermayer R. Tészás A, et al. Arch Ophthalmol. 2006 Oct;124(10):1490-2. doi: 10.1001/archopht.124.10.1490. Arch Ophthalmol. 2006. PMID: 17030721 No abstract available.

4

Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis.

Bartholdi D, Zumsteg D, Verrips A, Wevers RA, Sistermans E, Hess K, Jung HH. Bartholdi D, et al. J Neurol. 2004 Jan;251(1):105-7. doi: 10.1007/s00415-004-0221-x. J Neurol. 2004. PMID: 14999499 No abstract available.

5

Spastin mutations in sporadic adult-onset upper motor neuron syndromes.

Brugman F, Wokke JH, Scheffer H, Versteeg MH, Sistermans EA, van den Berg LH. Brugman F, et al. Among authors: sistermans ea. Ann Neurol. 2005 Dec;58(6):865-9. doi: 10.1002/ana.20652. Ann Neurol. 2005. PMID: 16240363

6

Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy.

Schuelke M, Finckh B, Sistermans EA, Ausems MG, Hübner C, von Moers A. Schuelke M, et al. Among authors: sistermans ea. Neurology. 2000 Nov 28;55(10):1584-6. doi: 10.1212/wnl.55.10.1584. Neurology. 2000. PMID: 11094124

7

A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and Belgium.

Lannoo L, van der Meij KRM, Bekker MN, De Catte L, Deckers S, Devriendt K, Roggen N, Galjaard RH, Gitsels-van der Wal J, Macville MVE, Martin L, Sistermans EA, Van Calsteren K, Van Keirsbilck J, Crombag N, Henneman L. Lannoo L, et al. Among authors: sistermans ea. Prenat Diagn. 2023 Mar;43(3):294-303. doi: 10.1002/pd.6329. Epub 2023 Feb 17. Prenat Diagn. 2023. PMID: 36740754

8

Novel mutation in the SPAST gene in a patient with spastic paraparesis.

Vergouwen MD, Sistermans EA, Baas F, Koelman JH, de Visser M. Vergouwen MD, et al. Among authors: sistermans ea. J Neurol. 2008 Feb;255(2):303-4. doi: 10.1007/s00415-007-0728-z. Epub 2007 Nov 30. J Neurol. 2008. PMID: 18038174 No abstract available.

9

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.

Sistermans EA, de Wijs IJ, de Coo RF, Smit LM, Menko FH, van Oost BA. Sistermans EA, et al. Hum Genet. 1996 Mar;97(3):337-9. doi: 10.1007/BF02185767. Hum Genet. 1996. PMID: 8786077 Free article.

10

Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.

Kremer H, Hamel BC, van den Helm B, Arts WF, de Wijs IJ, Sistermans EA, Ropers HH, Mariman EC. Kremer H, et al. Among authors: sistermans ea. Hum Genet. 1996 Nov;98(5):513-7. doi: 10.1007/s004390050250. Hum Genet. 1996. PMID: 8882866 Free article.

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