Brunner H - Search Results

1

Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization.

Speleman F, Leroy JG, Van Roy N, De Paepe A, Suijkerbuijk R, Brunner H, Looijenga L, Verschraegen-Spae MR, Orye E. Speleman F, et al. Among authors: brunner h. Am J Med Genet. 1991 Dec 1;41(3):381-7. doi: 10.1002/ajmg.1320410321. Am J Med Genet. 1991. PMID: 1789295

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

Presymptomatic diagnosis of myotonic dystrophy.

Brunner HG, Nillesen W, van Oost BA, Jansen G, Wieringa B, Ropers HH, Smeets HJ. Brunner HG, et al. J Med Genet. 1992 Nov;29(11):780-4. doi: 10.1136/jmg.29.11.780. J Med Genet. 1992. PMID: 1453426 Free PMC article.

4

Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia.

Brunner HG, Winter RM. Brunner HG, et al. J Med Genet. 1991 Jun;28(6):389-94. doi: 10.1136/jmg.28.6.389. J Med Genet. 1991. PMID: 1870095 Free PMC article.

5

Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1).

Breuning MH, Snijdewint FG, Brunner H, Verwest A, Ijdo JW, Saris JJ, Dauwerse JG, Blonden L, Keith T, Callen DF, et al. Breuning MH, et al. Among authors: brunner h. J Med Genet. 1990 Oct;27(10):603-13. doi: 10.1136/jmg.27.10.603. J Med Genet. 1990. PMID: 1978860 Free PMC article.

6

Further delineation of the branchio-oculo-facial syndrome.

Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P, et al. Lin AE, et al. Among authors: brunner hg. Am J Med Genet. 1995 Mar 13;56(1):42-59. doi: 10.1002/ajmg.1320560112. Am J Med Genet. 1995. PMID: 7747785 Free article. Review.

7

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.

8

Two additional cases of the Ohdo blepharophimosis syndrome.

Maat-Kievit A, Brunner HG, Maaswinkel-Mooij P. Maat-Kievit A, et al. Among authors: brunner hg. Am J Med Genet. 1993 Nov 1;47(6):901-6. doi: 10.1002/ajmg.1320470618. Am J Med Genet. 1993. PMID: 8279489 Review.

9

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.

Gong Y, Vikkula M, Boon L, Liu J, Beighton P, Ramesar R, Peltonen L, Somer H, Hirose T, Dallapiccola B, De Paepe A, Swoboda W, Zabel B, Superti-Furga A, Steinmann B, Brunner HG, Jans A, Boles RG, Adkins W, van den Boogaard MJ, Olsen BR, Warman ML. Gong Y, et al. Among authors: brunner hg. Am J Hum Genet. 1996 Jul;59(1):146-51. Am J Hum Genet. 1996. PMID: 8659519 Free PMC article.

10

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

Yntema HG, Poppelaars FA, Derksen E, Oudakker AR, van Roosmalen T, Jacobs A, Obbema H, Brunner HG, Hamel BC, van Bokhoven H. Yntema HG, et al. Among authors: brunner hg. Am J Med Genet. 2002 Jul 1;110(3):243-7. doi: 10.1002/ajmg.10446. Am J Med Genet. 2002. PMID: 12116232

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