Brunner HG - Search Results

1

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P. Vissers LE, et al. Among authors: brunner hg. Hum Mol Genet. 2009 Oct 1;18(19):3579-93. doi: 10.1093/hmg/ddp306. Epub 2009 Jul 3. Hum Mol Genet. 2009. PMID: 19578123

2

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).

Bach I, Brunner HG, Beighton P, Ruvalcaba RH, Reardon W, Pembrey ME, van der Velde-Visser SD, Bruns GA, Cremers CW, Cremers FP, et al. Bach I, et al. Among authors: brunner hg. Am J Hum Genet. 1992 Jul;51(1):38-44. Am J Hum Genet. 1992. PMID: 1609803 Free PMC article.

3

Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy.

Smeets HJ, Brunner HG, Ropers HH, Wieringa B. Smeets HJ, et al. Among authors: brunner hg. Hum Genet. 1989 Oct;83(3):245-51. doi: 10.1007/BF00285165. Hum Genet. 1989. PMID: 2571562

4

Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides.

Smeets B, Poddighe J, Brunner H, Ropers HH, Wieringa B. Smeets B, et al. Hum Genet. 1988 Sep;80(1):49-52. doi: 10.1007/BF00451455. Hum Genet. 1988. PMID: 3417303

5

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.

Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC. Brunner HG, et al. Hum Mol Genet. 1994 Sep;3(9):1561-4. doi: 10.1093/hmg/3.9.1561. Hum Mol Genet. 1994. PMID: 7833911

6

X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

Huber I, Bitner-Glindzicz M, de Kok YJ, van der Maarel SM, Ishikawa-Brush Y, Monaco AP, Robinson D, Malcolm S, Pembrey ME, Brunner HG, et al. Huber I, et al. Among authors: brunner hg. Hum Mol Genet. 1994 Jul;3(7):1151-4. doi: 10.1093/hmg/3.7.1151. Hum Mol Genet. 1994. PMID: 7981685

7

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.

Lemmink HH, Mochizuki T, van den Heuvel LP, Schröder CH, Barrientos A, Monnens LA, van Oost BA, Brunner HG, Reeders ST, Smeets HJ. Lemmink HH, et al. Among authors: brunner hg. Hum Mol Genet. 1994 Aug;3(8):1269-73. doi: 10.1093/hmg/3.8.1269. Hum Mol Genet. 1994. PMID: 7987301

8

Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.

Lemmink HH, Kluijtmans LA, Brunner HG, Schröder CH, Knebelmann B, Jelínková E, van Oost BA, Monnens LA, Smeets HJ. Lemmink HH, et al. Among authors: brunner hg. Hum Mol Genet. 1994 Feb;3(2):317-22. doi: 10.1093/hmg/3.2.317. Hum Mol Genet. 1994. PMID: 8004101

9

Dinucleotide repeat polymorphism at locus D19S207, close to the myotonic dystrophy (DM) gene.

Jansen G, Coerwinkel-Driessen M, Nillesen W, Brunner H, Wieringa B. Jansen G, et al. Hum Mol Genet. 1993 Mar;2(3):333. doi: 10.1093/hmg/2.3.333. Hum Mol Genet. 1993. PMID: 8499928 No abstract available.

10

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: brunner hg. Hum Mol Genet. 1996 Sep;5(9):1229-35. doi: 10.1093/hmg/5.9.1229. Hum Mol Genet. 1996. PMID: 8872461

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