Ropers HH - Search Results

1

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. Among authors: ropers hh. Am J Hum Genet. 1993 Jun;52(6):1032-9. Am J Hum Genet. 1993. PMID: 8503438 Free PMC article.

2

The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region.

Wijker M, Ligtenberg MJ, Schoute F, Defesche JC, Pals G, Bolhuis PA, Ropers HH, Hulsebos TJ, Menko FH, van Oost BA, et al. Wijker M, et al. Among authors: ropers hh. Am J Hum Genet. 1995 May;56(5):1096-100. Am J Hum Genet. 1995. PMID: 7726164 Free PMC article.

3

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.

Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC. Brunner HG, et al. Among authors: ropers hh. Hum Mol Genet. 1994 Sep;3(9):1561-4. doi: 10.1093/hmg/3.9.1561. Hum Mol Genet. 1994. PMID: 7833911

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. Among authors: ropers hh. Science. 1993 Oct 22;262(5133):578-80. doi: 10.1126/science.8211186. Science. 1993. PMID: 8211186

5

X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder.

de Vries DD, de Wijs IJ, Wolff G, Ketelsen UP, Ropers HH, van Oost BA. de Vries DD, et al. Among authors: ropers hh. Hum Genet. 1993 Mar;91(1):51-4. doi: 10.1007/BF00230222. Hum Genet. 1993. PMID: 8454287

6

Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.

Traupe H, Müller D, Atherton D, Kalter DC, Cremers FP, van Oost BA, Ropers HH. Traupe H, et al. Among authors: ropers hh. Hum Genet. 1992 Aug;89(6):659-65. doi: 10.1007/BF00221958. Hum Genet. 1992. PMID: 1355069

7

Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis.

van Oost BA, van Zandvoort PM, Tünte W, Brunner HG, Hoogeboom AJ, Maaswinkel-Mooy PD, Bakkeren J, Hamel B, Ropers HH. van Oost BA, et al. Among authors: ropers hh. Hum Genet. 1991 Feb;86(4):404-7. doi: 10.1007/BF00201845. Hum Genet. 1991. PMID: 1671851

8

An NcoI restriction fragment length polymorphism at the human steroid sulphatase gene locus.

van Zandvoort PM, van Bennekom CA, Ropers HH, van Oost BA. van Zandvoort PM, et al. Among authors: ropers hh. Hum Genet. 1990 Apr;84(5):489-90. doi: 10.1007/BF00195828. Hum Genet. 1990. PMID: 1969847

9

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: ropers hh. Hum Genet. 1989 Oct;83(3):245-51. doi: 10.1007/BF00285165. Hum Genet. 1989. PMID: 2571562

10

Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM).

Brunner HG, Korneluk RG, Coerwinkel-Driessen M, MacKenzie A, Smeets H, Lambermon HM, van Oost BA, Wieringa B, Ropers HH. Brunner HG, et al. Among authors: ropers hh. Hum Genet. 1989 Mar;81(4):308-10. doi: 10.1007/BF00283680. Hum Genet. 1989. PMID: 2703233

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