den Dunnen JT - Search Results

1

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH. Sun Y, et al. Among authors: den dunnen jt. Am J Hum Genet. 2010 Jul 9;87(1):146-53. doi: 10.1016/j.ajhg.2010.06.008. Am J Hum Genet. 2010. PMID: 20598277 Free PMC article.

2

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

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

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

Bakker E, Veenema H, Den Dunnen JT, van Broeckhoven C, Grootscholten PM, Bonten EJ, van Ommen GJ, Pearson PL. Bakker E, et al. Among authors: den dunnen jt. J Med Genet. 1989 Sep;26(9):553-9. doi: 10.1136/jmg.26.9.553. J Med Genet. 1989. PMID: 2810338 Free PMC article.

5

Somatic expansion of the (CAG)n repeat in Huntington disease brains.

De Rooij KE, De Koning Gans PA, Roos RA, Van Ommen GJ, Den Dunnen JT. De Rooij KE, et al. Among authors: den dunnen jt. Hum Genet. 1995 Mar;95(3):270-4. doi: 10.1007/BF00225192. Hum Genet. 1995. PMID: 7868117

6

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

7

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.

8

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

9

Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis.

van de Vosse E, Franco B, van der Bent P, Montini E, Orth U, Hanauer A, Tijmes N, van Ommen GJ, Ballabio A, den Dunnen JT, Bergen AA. van de Vosse E, et al. Among authors: den dunnen jt. Hum Genet. 1997 Dec;101(2):235-7. doi: 10.1007/s004390050622. Hum Genet. 1997. PMID: 9402977

10

WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma.

Stec I, Wright TJ, van Ommen GJ, de Boer PA, van Haeringen A, Moorman AF, Altherr MR, den Dunnen JT. Stec I, et al. Among authors: den dunnen jt. Hum Mol Genet. 1998 Jul;7(7):1071-82. doi: 10.1093/hmg/7.7.1071. Hum Mol Genet. 1998. PMID: 9618163

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