Brunner HG - Search Results

1

Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype.

Lindeman-Kusse MC, Van Haeringen A, Hoorweg-Nijman JJ, Brunner HG. Lindeman-Kusse MC, et al. Among authors: brunner hg. Am J Med Genet. 1996 Dec 2;66(1):104-12. doi: 10.1002/(SICI)1096-8628(19961202)66:1<104::AID-AJMG28>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8957526

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

Absent thumb, immune disorder, and congenital anemia presenting with hydrops fetalis.

Semmekrot BA, Haraldsson A, Weemaes CM, Smeets DF, Geven WB, Brunner HG. Semmekrot BA, et al. Among authors: brunner hg. Am J Med Genet. 1992 Mar 1;42(5):736-40. doi: 10.1002/ajmg.1320420523. Am J Med Genet. 1992. PMID: 1632450

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

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

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.

8

Ectodermal dysplasia, cleft lip/palate, and severe cutaneous and osseous syndactyly in a mentally retarded girl: a new multiple malformation syndrome.

Freihofer HP, Walji S, Brunner HG. Freihofer HP, et al. Among authors: brunner hg. Am J Med Genet. 1997 Jun 13;70(3):211-5. Am J Med Genet. 1997. PMID: 9188655 Free article.

9

Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.

van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG. van Steensel MA, et al. Among authors: brunner hg. Am J Med Genet. 1997 Jun 13;70(3):315-23. doi: 10.1002/(sici)1096-8628(19970613)70:3<315::aid-ajmg19>3.3.co;2-y. Am J Med Genet. 1997. PMID: 9188673 Free article.

10

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H. Celli J, et al. Among authors: brunner hg. Cell. 1999 Oct 15;99(2):143-53. doi: 10.1016/s0092-8674(00)81646-3. Cell. 1999. PMID: 10535733 Free article.

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