Brunner HG - Search Results

1

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Löhner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, Rump P, Rinne T, Nelen MR, Veltman JA, Vissers LE, Brunner HG, Gilissen C. Lelieveld SH, et al. Among authors: brunner hg. Nat Neurosci. 2016 Sep;19(9):1194-6. doi: 10.1038/nn.4352. Epub 2016 Aug 1. Nat Neurosci. 2016. PMID: 27479843 Review.

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

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

5

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

6

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.

7

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.

8

Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression.

van der Burgt I, Thoonen G, Roosenboom N, Assman-Hulsmans C, Gabreels F, Otten B, Brunner HG. van der Burgt I, et al. Among authors: brunner hg. J Pediatr. 1999 Dec;135(6):707-13. doi: 10.1016/s0022-3476(99)70089-2. J Pediatr. 1999. PMID: 10586173

9

A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.

Yntema HG, van den Helm B, Kissing J, van Duijnhoven G, Poppelaars F, Chelly J, Moraine C, Fryns JP, Hamel BC, Heilbronner H, Pander HJ, Brunner HG, Ropers HH, Cremers FP, van Bokhoven H. Yntema HG, et al. Among authors: brunner hg. Genomics. 1999 Dec 15;62(3):332-43. doi: 10.1006/geno.1999.6004. Genomics. 1999. PMID: 10644430

10

3-M syndrome: description of six new patients with review of the literature.

van der Wal G, Otten BJ, Brunner HG, van der Burgt I. van der Wal G, et al. Among authors: brunner hg. Clin Dysmorphol. 2001 Oct;10(4):241-52. doi: 10.1097/00019605-200110000-00002. Clin Dysmorphol. 2001. PMID: 11665997 Review.

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