van Essen AJ - Search Results

1

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.

van Essen AJ, Mulder IM, van der Vlies P, van der Hout AH, Buys CH, Hofstra RM, den Dunnen JT. van Essen AJ, et al. Among authors: van der hout ah, van der vlies p. Am J Med Genet A. 2003 Apr 30;118A(3):296-8. doi: 10.1002/ajmg.a.10056. Am J Med Genet A. 2003. PMID: 12673664 No abstract available.

2

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.

Hofstra RM, Mulder IM, Vossen R, de Koning-Gans PA, Kraak M, Ginjaar IB, van der Hout AH, Bakker E, Buys CH, van Ommen GJ, van Essen AJ, den Dunnen JT. Hofstra RM, et al. Among authors: van essen aj, van der hout ah, van ommen gj. Hum Mutat. 2004 Jan;23(1):57-66. doi: 10.1002/humu.10283. Hum Mutat. 2004. PMID: 14695533

3

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

van Essen AJ, Kneppers AL, van der Hout AH, Scheffer H, Ginjaar IB, ten Kate LP, van Ommen GJ, Buys CH, Bakker E. van Essen AJ, et al. Among authors: van der hout ah, van ommen gj. J Med Genet. 1997 Oct;34(10):805-12. doi: 10.1136/jmg.34.10.805. J Med Genet. 1997. PMID: 9350811 Free PMC article.

4

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.

Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM. Verheij JB, et al. Among authors: van essen aj. Am J Med Genet. 2002 Mar 15;108(3):223-5. doi: 10.1002/ajmg.10172. Am J Med Genet. 2002. PMID: 11891690

5

A Hirschsprung disease locus at 22q11?

Kerstjens-Frederikse WS, Hofstra RM, van Essen AJ, Meijers JH, Buys CH. Kerstjens-Frederikse WS, et al. Among authors: van essen aj. J Med Genet. 1999 Mar;36(3):221-4. J Med Genet. 1999. PMID: 10204849 Free PMC article.

6

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.

van den Akker PC, Mellerio JE, Martinez AE, Liu L, Meijer R, Dopping-Hepenstal PJ, van Essen AJ, Scheffer H, Hofstra RM, McGrath JA, Jonkman MF. van den Akker PC, et al. Among authors: van essen aj. J Med Genet. 2011 Mar;48(3):160-7. doi: 10.1136/jmg.2010.082230. Epub 2010 Nov 26. J Med Genet. 2011. PMID: 21113014

7

Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.

Verheij JB, Bouman K, van Lingen RA, van Lookeren Campagne JG, Leegte B, van der Veen AY, Hofstra RM, Buys CH, van Essen AJ. Verheij JB, et al. Among authors: van essen aj, van der veen ay, van lingen ra, van lookeren campagne jg. Am J Med Genet. 1999 Sep 10;86(2):168-73. doi: 10.1002/(sici)1096-8628(19990910)86:2<168::aid-ajmg16>3.0.co;2-q. Am J Med Genet. 1999. PMID: 10449655 Review.

8

Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome.

Dauwerse JG, Bouman K, van Essen AJ, van Der Hout AH, Kolsters G, Breuning MH, Peters DJ. Dauwerse JG, et al. Among authors: van essen aj, van der hout ah. J Med Genet. 2002 Feb;39(2):136-41. doi: 10.1136/jmg.39.2.136. J Med Genet. 2002. PMID: 11836366 Free PMC article. No abstract available.

9

Two cases of the caudal duplication anomaly including a discordant monozygotic twin.

Kroes HY, Takahashi M, Zijlstra RJ, Baert JA, Kooi KA, Hofstra RM, van Essen AJ. Kroes HY, et al. Among authors: van essen aj. Am J Med Genet. 2002 Nov 1;112(4):390-3. doi: 10.1002/ajmg.10594. Am J Med Genet. 2002. PMID: 12376942

10

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ. van der Hout AH, et al. Among authors: van essen aj. Eur J Hum Genet. 2008 Jun;16(6):673-9. doi: 10.1038/sj.ejhg.5202012. Epub 2008 Jan 30. Eur J Hum Genet. 2008. PMID: 18231121

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

107 results

Search Page

Filters