Brunner HG - Search Results

1

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

Willemsen MH, Nijhof B, Fenckova M, Nillesen WM, Bongers EM, Castells-Nobau A, Asztalos L, Viragh E, van Bon BW, Tezel E, Veltman JA, Brunner HG, de Vries BB, de Ligt J, Yntema HG, van Bokhoven H, Isidor B, Le Caignec C, Lorino E, Asztalos Z, Koolen DA, Vissers LE, Schenck A, Kleefstra T. Willemsen MH, et al. Among authors: brunner hg. J Med Genet. 2013 Aug;50(8):507-14. doi: 10.1136/jmedgenet-2012-101490. Epub 2013 May 4. J Med Genet. 2013. PMID: 23644463

2

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.

3

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.

4

Myotonic dystrophy. Predictive value of normal results on clinical examination.

Brunner HG, Smeets HJ, Nillesen W, van Oost BA, van den Biezenbos JB, Joosten EM, Pinckers AJ, Hamel BC, Theeuwes AG, Wieringa B, et al. Brunner HG, et al. Brain. 1991 Oct;114 ( Pt 5):2303-11. doi: 10.1093/brain/114.5.2303. Brain. 1991. PMID: 1933246

5

Acrocallosal syndrome.

Hendriks HJ, Brunner HG, Haagen TA, Hamel BC. Hendriks HJ, et al. Among authors: brunner hg. Am J Med Genet. 1990 Mar;35(3):443-6. doi: 10.1002/ajmg.1320350325. Am J Med Genet. 1990. PMID: 2309796

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

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

Jansen G, Willems P, Coerwinkel M, Nillesen W, Smeets H, Vits L, Höweler C, Brunner H, Wieringa B. Jansen G, et al. Am J Hum Genet. 1994 Apr;54(4):575-85. Am J Hum Genet. 1994. PMID: 8128954 Free PMC article.

8

Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).

Brunner HG, Brüggenwirth HT, Nillesen W, Jansen G, Hamel BC, Hoppe RL, de Die CE, Höweler CJ, van Oost BA, Wieringa B, et al. Brunner HG, et al. Am J Hum Genet. 1993 Nov;53(5):1016-23. Am J Hum Genet. 1993. PMID: 8213829 Free PMC article.

9

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.

10

Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots.

Brunner HG, Hulsebos T, Steijlen PM, der Kinderen DJ, vd Steen A, Hamel BC. Brunner HG, et al. Am J Med Genet. 1993 Jun 1;46(4):472-4. doi: 10.1002/ajmg.1320460428. Am J Med Genet. 1993. PMID: 8357027

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