Brunner HG - Search Results

1

Long-read trio sequencing of individuals with unsolved intellectual disability.

Pauper M, Kucuk E, Wenger AM, Chakraborty S, Baybayan P, Kwint M, van der Sanden B, Nelen MR, Derks R, Brunner HG, Hoischen A, Vissers LELM, Gilissen C. Pauper M, et al. Among authors: brunner hg. Eur J Hum Genet. 2021 Apr;29(4):637-648. doi: 10.1038/s41431-020-00770-0. Epub 2020 Nov 30. Eur J Hum Genet. 2021. PMID: 33257779 Free PMC article.

2

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.

Meijers-Heijboer EJ, Sandkuijl LA, Brunner HG, Smeets HJ, Hoogeboom AJ, Deelen WH, van Hemel JO, Nelen MR, Smeets DF, Niermeijer MF, et al. Meijers-Heijboer EJ, et al. Among authors: brunner hg. J Med Genet. 1992 Dec;29(12):853-7. doi: 10.1136/jmg.29.12.853. J Med Genet. 1992. PMID: 1362220 Free PMC article.

3

Molecular genetics of X-linked hearing impairment.

Brunner HG, Smeets B, Smeets D, Nelen M, Cremers CW, Ropers HH. Brunner HG, et al. Ann N Y Acad Sci. 1991;630:176-90. doi: 10.1111/j.1749-6632.1991.tb19586.x. Ann N Y Acad Sci. 1991. PMID: 1683204 Review. No abstract available.

4

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

5

The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.

Brunner HG, van Bennekom A, Lambermon EM, Oei TL, Cremers WR, Wieringa B, Ropers HH. Brunner HG, et al. Hum Genet. 1988 Dec;80(4):337-40. doi: 10.1007/BF00273647. Hum Genet. 1988. PMID: 2904400

6

Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.

de Die-Smulders CE, Höweler CJ, Mirandolle JF, Brunner HG, Hovers V, Brüggenwirth H, Smeets HJ, Geraedts JP. de Die-Smulders CE, et al. Among authors: brunner hg. J Med Genet. 1994 Aug;31(8):595-601. doi: 10.1136/jmg.31.8.595. J Med Genet. 1994. PMID: 7815415 Free PMC article.

7

Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.

Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA. Brunner HG, et al. Science. 1993 Oct 22;262(5133):578-80. doi: 10.1126/science.8211186. Science. 1993. PMID: 8211186

8

Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.

Lemmink HH, Schröder CH, Brunner HG, Nelen MR, Zhou J, Tryggvason K, Haagsma-Schouten WA, Roodvoets AP, Rascher W, van Oost BA, et al. Lemmink HH, et al. Among authors: brunner hg. Genomics. 1993 Aug;17(2):485-9. doi: 10.1006/geno.1993.1351. Genomics. 1993. PMID: 8406498

9

Brief report: reverse mutation in myotonic dystrophy.

Brunner HG, Jansen G, Nillesen W, Nelen MR, de Die CE, Höweler CJ, van Oost BA, Wieringa B, Ropers HH, Smeets HJ. Brunner HG, et al. N Engl J Med. 1993 Feb 18;328(7):476-80. doi: 10.1056/NEJM199302183280705. N Engl J Med. 1993. PMID: 8421477 Free article. No abstract available.

10

X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism.

Brunner HG, Nelen MR, van Zandvoort P, Abeling NG, van Gennip AH, Wolters EC, Kuiper MA, Ropers HH, van Oost BA. Brunner HG, et al. Am J Hum Genet. 1993 Jun;52(6):1032-9. Am J Hum Genet. 1993. PMID: 8503438 Free PMC article.

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