Ginjaar HB - Search Results

1

Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

Helderman-van den Enden AT, van den Bergen JC, Breuning MH, Verschuuren JJ, Tibben A, Bakker E, Ginjaar HB. Helderman-van den Enden AT, et al. Among authors: ginjaar hb. Clin Genet. 2011 Mar;79(3):236-42. doi: 10.1111/j.1399-0004.2010.01579.x. Epub 2010 Nov 11. Clin Genet. 2011. PMID: 21070212

2

An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy.

Helderman-van den Enden AT, Madan K, Breuning MH, van der Hout AH, Bakker E, de Die-Smulders CE, Ginjaar HB. Helderman-van den Enden AT, et al. Among authors: ginjaar hb. Eur J Hum Genet. 2013 Jan;21(1):21-6. doi: 10.1038/ejhg.2012.101. Epub 2012 Jun 6. Eur J Hum Genet. 2013. PMID: 22669413 Free PMC article.

3

Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.

Straathof CS, Van Heusden D, Ippel PF, Post JG, Voermans NC, De Visser M, Brusse E, Van Den Bergen JC, Van Der Kooi AJ, Verschuuren JJ, Ginjaar HB. Straathof CS, et al. Among authors: ginjaar hb. Muscle Nerve. 2016 Jan;53(1):44-8. doi: 10.1002/mus.24691. Epub 2015 Jun 3. Muscle Nerve. 2016. PMID: 25900853

4

Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures.

Helderman-van den Enden AT, Ginjaar HB, Kneppers AL, Bakker E, Breuning MH, de Visser M. Helderman-van den Enden AT, et al. Among authors: ginjaar hb. Neuromuscul Disord. 2003 May;13(4):317-21. doi: 10.1016/s0960-8966(02)00285-7. Neuromuscul Disord. 2003. PMID: 12868501

5

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.

Helderman-van den Enden AT, de Jong R, den Dunnen JT, Houwing-Duistermaat JJ, Kneppers AL, Ginjaar HB, Breuning MH, Bakker E. Helderman-van den Enden AT, et al. Among authors: ginjaar hb. Clin Genet. 2009 May;75(5):465-72. doi: 10.1111/j.1399-0004.2009.01173.x. Clin Genet. 2009. PMID: 19475718

6

Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients.

Helderman-van den Enden AT, Straathof CS, Aartsma-Rus A, den Dunnen JT, Verbist BM, Bakker E, Verschuuren JJ, Ginjaar HB. Helderman-van den Enden AT, et al. Among authors: ginjaar hb. Neuromuscul Disord. 2010 Apr;20(4):251-4. doi: 10.1016/j.nmd.2010.01.013. Epub 2010 Feb 13. Neuromuscul Disord. 2010. PMID: 20153965

7

Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy.

van den Bergen JC, Schade van Westrum SM, Dekker L, van der Kooi AJ, de Visser M, Wokke BH, Straathof CS, Hulsker MA, Aartsma-Rus A, Verschuuren JJ, Ginjaar HB. van den Bergen JC, et al. Among authors: ginjaar hb. J Neurol Neurosurg Psychiatry. 2014 Jan;85(1):92-8. doi: 10.1136/jnnp-2012-304729. Epub 2013 May 10. J Neurol Neurosurg Psychiatry. 2014. PMID: 23667215

8

Dystrophin levels and clinical severity in Becker muscular dystrophy patients.

van den Bergen JC, Wokke BH, Janson AA, van Duinen SG, Hulsker MA, Ginjaar HB, van Deutekom JC, Aartsma-Rus A, Kan HE, Verschuuren JJ. van den Bergen JC, et al. Among authors: ginjaar hb. J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):747-53. doi: 10.1136/jnnp-2013-306350. Epub 2013 Nov 29. J Neurol Neurosurg Psychiatry. 2014. PMID: 24292997

9

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.

van den Bergen JC, Hiller M, Böhringer S, Vijfhuizen L, Ginjaar HB, Chaouch A, Bushby K, Straub V, Scoto M, Cirak S, Humbertclaude V, Claustres M, Scotton C, Passarelli C, Lochmüller H, Muntoni F, Tuffery-Giraud S, Ferlini A, Aartsma-Rus AM, Verschuuren JJ, 't Hoen PA, Spitali P. van den Bergen JC, et al. Among authors: ginjaar hb. J Neurol Neurosurg Psychiatry. 2015 Oct;86(10):1060-5. doi: 10.1136/jnnp-2014-308409. Epub 2014 Dec 4. J Neurol Neurosurg Psychiatry. 2015. PMID: 25476005 Free PMC article.

10

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, van Paassen HM, van Broeckhoven C, Pearson PL, van Ommen GJ. Den Dunnen JT, et al. Among authors: ginjaar hb. Am J Hum Genet. 1989 Dec;45(6):835-47. Am J Hum Genet. 1989. PMID: 2573997 Free PMC article.

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