Taschner PE - Search Results

1

A germline chromothripsis event stably segregating in 11 individuals through three generations.

Bertelsen B, Nazaryan-Petersen L, Sun W, Mehrjouy MM, Xie G, Chen W, Hjermind LE, Taschner PE, Tümer Z. Bertelsen B, et al. Among authors: taschner pe. Genet Med. 2016 May;18(5):494-500. doi: 10.1038/gim.2015.112. Epub 2015 Aug 27. Genet Med. 2016. PMID: 26312826 Free article.

2

Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis.

Taschner PE, de Vos N, Catsman-Berrevoets CE, van Duinen SG, Lindhout D, Breuning MH. Taschner PE, et al. Am J Med Genet. 1995 Jun 5;57(2):338-43. doi: 10.1002/ajmg.1320570247. Am J Med Genet. 1995. PMID: 7668359

3

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

Bayley JP, van Minderhout I, Weiss MM, Jansen JC, Oomen PH, Menko FH, Pasini B, Ferrando B, Wong N, Alpert LC, Williams R, Blair E, Devilee P, Taschner PE. Bayley JP, et al. Among authors: taschner pe. BMC Med Genet. 2006 Jan 11;7:1. doi: 10.1186/1471-2350-7-1. BMC Med Genet. 2006. PMID: 16405730 Free PMC article.

4

Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).

Taschner PE, de Vos N, Post JG, Meijers-Heijboer EJ, Hofman I, Loonen MC, Pinckers AJ, Bleeker-Wagemakers EM, Gardiner RM, Breuning MH. Taschner PE, et al. Am J Med Genet. 1995 Jun 5;57(2):333-7. doi: 10.1002/ajmg.1320570246. Am J Med Genet. 1995. PMID: 7668358 Free article.

5

Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD).

Hofman IL, Taschner PE. Hofman IL, et al. Among authors: taschner pe. Am J Med Genet. 1995 Jun 5;57(2):165-7. doi: 10.1002/ajmg.1320570211. Am J Med Genet. 1995. PMID: 7668323

6

Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.

Taschner PE, de Vos N, Breuning MH. Taschner PE, et al. J Med Genet. 1997 Nov;34(11):955-6. doi: 10.1136/jmg.34.11.955. J Med Genet. 1997. PMID: 9391897 Free PMC article.

7

Isolation of genes from the Batten candidate region using exon amplification. Batten Disease Consortium.

Lerner TJ, D'Arigo KL, Haines JL, Doggett NA, Taschner PE, de Vos N, Buckler AJ. Lerner TJ, et al. Among authors: taschner pe. Am J Med Genet. 1995 Jun 5;57(2):320-3. doi: 10.1002/ajmg.1320570243. Am J Med Genet. 1995. PMID: 7668355

8

An efficient algorithm for the extraction of HGVS variant descriptions from sequences.

Vis JK, Vermaat M, Taschner PE, Kok JN, Laros JF. Vis JK, et al. Among authors: taschner pe. Bioinformatics. 2015 Dec 1;31(23):3751-7. doi: 10.1093/bioinformatics/btv443. Epub 2015 Jul 31. Bioinformatics. 2015. PMID: 26231427

9

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).

Taschner PE, de Vos N, Thompson AD, Callen DF, Doggett N, Mole SE, Dooley TP, Barth PG, Breuning MH. Taschner PE, et al. Am J Hum Genet. 1995 Mar;56(3):663-8. Am J Hum Genet. 1995. PMID: 7887420 Free PMC article.

10

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.

Bayley JP, Devilee P, Taschner PE. Bayley JP, et al. Among authors: taschner pe. BMC Med Genet. 2005 Nov 16;6:39. doi: 10.1186/1471-2350-6-39. BMC Med Genet. 2005. PMID: 16288654 Free PMC article.

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