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Results: 1 to 20 of 34

1.

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F.

Orphanet J Rare Dis. 2014 Feb 13;9(1):23. doi: 10.1186/1750-1172-9-23.

PMID:
24524299
[PubMed - in process]
Free PMC Article
2.

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.

Voermans NC, Kleefstra T, Gabreëls-Festen AA, Faas BH, Kamsteeg EJ, Houlden H, Laurá M, Polke JM, Pandraud A, van Ruissen F, van Engelen BG, Reilly MM.

J Peripher Nerv Syst. 2012 Jun;17(2):223-5. doi: 10.1111/j.1529-8027.2012.00402.x. No abstract available.

PMID:
22734911
[PubMed - indexed for MEDLINE]
3.

The phenotype of the Gly94fsX222 PMP22 insertion.

de Vries SD, Verhamme C, van Ruissen F, van Paassen BW, Arts WF, Kerkhoff H, van Engelen BG, Lammens M, de Visser M, Baas F, van der Kooi AJ.

J Peripher Nerv Syst. 2011 Jun;16(2):113-8. doi: 10.1111/j.1529-8027.2011.00333.x.

PMID:
21692910
[PubMed - indexed for MEDLINE]
4.

TSEN54 mutations cause pontocerebellar hypoplasia type 5.

Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F.

Eur J Hum Genet. 2011 Jun;19(6):724-6. doi: 10.1038/ejhg.2011.8. Epub 2011 Feb 2.

PMID:
21368912
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium, Dobyns WB, Baas F, Poll-The BT.

Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15.

PMID:
20952379
[PubMed - indexed for MEDLINE]
Free Article
6.

X-linked Charcot-Marie-Tooth disease with novel c.47A>T GJB1 gene mutation.

Vrancken AF, Spliet WG, van Ruissen F.

J Peripher Nerv Syst. 2010 Jun;15(2):156-7. doi: 10.1111/j.1529-8027.2010.00266.x. No abstract available.

PMID:
20626781
[PubMed - indexed for MEDLINE]
7.

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.

Weterman MA, van Ruissen F, de Wissel M, Bordewijk L, Samijn JP, van der Pol WL, Meggouh F, Baas F.

Eur J Hum Genet. 2010 Apr;18(4):421-8. doi: 10.1038/ejhg.2009.186. Epub 2009 Nov 4.

PMID:
19888301
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.

Ritz K, Gerrits MC, Foncke EM, van Ruissen F, van der Linden C, Vergouwen MD, Bloem BR, Vandenberghe W, Crols R, Speelman JD, Baas F, Tijssen MA.

J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):653-8. doi: 10.1136/jnnp.2008.162099. Epub 2008 Dec 9.

PMID:
19066193
[PubMed - indexed for MEDLINE]
9.

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F.

Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.

PMID:
18711368
[PubMed - indexed for MEDLINE]
10.

Scaling of gene expression data allowing the comparison of different gene expression platforms.

van Ruissen F, Schaaf GJ, Kool M, Baas F, Ruijter JM.

Methods Mol Biol. 2008;387:169-83.

PMID:
18287631
[PubMed - indexed for MEDLINE]
11.

Statistical comparison of two or more SAGE libraries: one tag at a time.

Schaaf GJ, van Ruissen F, van Kampen A, Kool M, Ruijter JM.

Methods Mol Biol. 2008;387:151-68.

PMID:
18287630
[PubMed - indexed for MEDLINE]
12.

Serial analysis of gene expression (SAGE).

van Ruissen F, Baas F.

Methods Mol Biol. 2007;383:41-66. doi: 10.1007/978-1-59745-335-6_4.

PMID:
18217678
[PubMed - indexed for MEDLINE]
13.

Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.

Smit LS, Roofthooft D, van Ruissen F, Baas F, van Doorn PA.

Neuromuscul Disord. 2008 Jan;18(1):59-62. Epub 2007 Sep 6.

PMID:
17825553
[PubMed - indexed for MEDLINE]
14.

Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia.

Foncke EM, Gerrits MC, van Ruissen F, Baas F, Hedrich K, Tijssen CC, Klein C, Tijssen MA.

Neurology. 2006 Nov 14;67(9):1677-80.

PMID:
17101905
[PubMed - indexed for MEDLINE]
15.

Comparison of Schwann cell and sciatic nerve transcriptomes indicates that mouse is a valid model for the human peripheral nervous system.

Ten Asbroek AL, Van Ruissen F, Ruijter JM, Baas F.

J Neurosci Res. 2006 Aug 15;84(3):542-52.

PMID:
16786575
[PubMed - indexed for MEDLINE]
16.

Evaluation of the similarity of gene expression data estimated with SAGE and Affymetrix GeneChips.

van Ruissen F, Ruijter JM, Schaaf GJ, Asgharnegad L, Zwijnenburg DA, Kool M, Baas F.

BMC Genomics. 2005 Jun 14;6:91.

PMID:
15955238
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Full transcriptome analysis of rhabdomyosarcoma, normal, and fetal skeletal muscle: statistical comparison of multiple SAGE libraries.

Schaaf GJ, Ruijter JM, van Ruissen F, Zwijnenburg DA, Waaijer R, Valentijn LJ, Benit-Deekman J, van Kampen AH, Baas F, Kool M.

FASEB J. 2005 Mar;19(3):404-6. Epub 2005 Jan 3.

PMID:
15629888
[PubMed - indexed for MEDLINE]
Free Article
18.

Serial analysis of gene expression in human keratinocytes and epidermis.

Jansen BJ, de Jongh G, Schalkwijk J, van Ruissen F.

Methods Mol Biol. 2005;289:383-98.

PMID:
15502200
[PubMed - indexed for MEDLINE]
19.

Tumor necrosis factor related apoptosis inducing ligand triggers apoptosis in dividing but not in differentiating human epidermal keratinocytes.

Jansen BJ, van Ruissen F, Cerneus S, Cloin W, Bergers M, van Erp PE, Schalkwijk J.

J Invest Dermatol. 2003 Dec;121(6):1433-9.

PMID:
14675194
[PubMed - indexed for MEDLINE]
Free Article
20.

Development of a keratinocyte-based screening model for antipsoriatic drugs using green fluorescent protein under the control of an endogenous promoter.

Pol A, van Ruissen F, Schalkwijk J.

J Biomol Screen. 2002 Aug;7(4):325-32.

PMID:
12230886
[PubMed - indexed for MEDLINE]

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