den Dunnen J - Search Results

1

Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome.

Riva P, Castorina P, Manoukian S, Dalprà L, Doneda L, Marini G, den Dunnen J, Larizza L. Riva P, et al. Among authors: den dunnen j. Hum Genet. 1996 Dec;98(6):646-50. doi: 10.1007/s004390050277. Hum Genet. 1996. PMID: 8931693

2

A polymorphic STS in intron 44 of the dystrophin gene.

Blonden LA, Terwindt GM, Den Dunnen JT, Van Ommen GJ. Blonden LA, et al. Among authors: den dunnen jt. Hum Genet. 1994 Apr;93(4):479-80. doi: 10.1007/BF00201683. Hum Genet. 1994. PMID: 7909532

3

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. Am J Hum Genet. 1989 Dec;45(6):835-47. Am J Hum Genet. 1989. PMID: 2573997 Free PMC article.

4

Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region.

Datson NA, Semina E, van Staalduinen AA, Dauwerse HG, Meershoek EJ, Heus JJ, Frants RR, den Dunnen JT, Murray JC, van Ommen GJ. Datson NA, et al. Among authors: den dunnen jt. Am J Hum Genet. 1996 Dec;59(6):1297-305. Am J Hum Genet. 1996. PMID: 8940275 Free PMC article.

5

Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation.

van der Maarel SM, Scholten IH, Maat-Kievit JA, Huber I, de Kok YJ, de Wijs I, van de Pol TJ, van Bokhoven H, den Dunnen JT, van Ommen GJ, et al. van der Maarel SM, et al. Among authors: den dunnen jt. Eur J Hum Genet. 1995;3(4):207-18. doi: 10.1159/000472301. Eur J Hum Genet. 1995. PMID: 8528669

6

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.

de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, den Dunnen JT, Brunner HG, Ropers HH, Cremers FP. de Kok YJ, et al. Among authors: den dunnen jt. Hum Mol Genet. 1996 Sep;5(9):1229-35. doi: 10.1093/hmg/5.9.1229. Hum Mol Genet. 1996. PMID: 8872461

7

Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination.

Den Dunnen JT, Grootscholten PM, Dauwerse JG, Walker AP, Monaco AP, Butler R, Anand R, Coffey AJ, Bentley DR, Steensma HY, et al. Den Dunnen JT, et al. Hum Mol Genet. 1992 Apr;1(1):19-28. doi: 10.1093/hmg/1.1.19. Hum Mol Genet. 1992. PMID: 1301131

8

Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.

van der Steege G, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, den Dunnen JT, van Ommen GJ, Brahe C, Buys CH. van der Steege G, et al. Among authors: den dunnen jt. Am J Hum Genet. 1996 Oct;59(4):834-8. Am J Hum Genet. 1996. PMID: 8808598 Free PMC article.

9

A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin.

Montini E, Rugarli EI, Van de Vosse E, Andolfi G, Mariani M, Puca AA, Consalez GG, den Dunnen JT, Ballabio A, Franco B. Montini E, et al. Among authors: den dunnen jt. Hum Mol Genet. 1997 Jul;6(7):1137-45. doi: 10.1093/hmg/6.7.1137. Hum Mol Genet. 1997. PMID: 9215685

10

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.

Kriek M, Szuhai K, Kant SG, White SJ, Dauwerse H, Fiegler H, Carter NP, Knijnenburg J, den Dunnen JT, Tanke HJ, Breuning MH, Rosenberg C. Kriek M, et al. Among authors: den dunnen jt. Hum Genet. 2006 Aug;120(1):77-84. doi: 10.1007/s00439-006-0185-2. Epub 2006 May 18. Hum Genet. 2006. PMID: 16708226

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