Ropers HH - Search Results

1

Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.

Kremer H, Hamel BC, van den Helm B, Arts WF, de Wijs IJ, Sistermans EA, Ropers HH, Mariman EC. Kremer H, et al. Among authors: ropers hh. Hum Genet. 1996 Nov;98(5):513-7. doi: 10.1007/s004390050250. Hum Genet. 1996. PMID: 8882866 Free article.

2

Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity.

Mariman EC, van Beersum SE, Cremers CW, Struycken PM, Ropers HH. Mariman EC, et al. Among authors: ropers hh. Hum Genet. 1995 Jan;95(1):56-62. doi: 10.1007/BF00225075. Hum Genet. 1995. PMID: 7814027 Free 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

Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.

Hamel BC, Mariman EC, van Beersum SE, Schoonbrood-Lenssen AM, Ropers HH. Hamel BC, et al. Among authors: ropers hh. Am J Med Genet. 1994 Jul 15;51(4):591-7. doi: 10.1002/ajmg.1320510459. Am J Med Genet. 1994. PMID: 7943045

5

Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial Mediterranean fever. International Hyper-IgD Study Group.

Drenth JP, Mariman EC, Van der Velde-Visser SD, Ropers HH, Van der Meer JW. Drenth JP, et al. Among authors: ropers hh. Hum Genet. 1994 Dec;94(6):616-20. doi: 10.1007/BF00206953. Hum Genet. 1994. PMID: 7989036

6

Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p.

Kremer H, Pinckers A, van den Helm B, Deutman AF, Ropers HH, Mariman EC. Kremer H, et al. Among authors: ropers hh. Hum Mol Genet. 1994 Feb;3(2):299-302. doi: 10.1093/hmg/3.2.299. Hum Mol Genet. 1994. PMID: 8004098

7

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies.

Mariman EC, Gabreëls-Festen AA, van Beersum SE, Jongen PJ, van de Looij E, Baas F, Bolhuis PA, Ropers HH, Gabreëls FJ. Mariman EC, et al. Among authors: ropers hh. Hum Genet. 1994 Feb;93(2):151-6. doi: 10.1007/BF00210601. Hum Genet. 1994. PMID: 8112739

8

Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

Kremer H, Mariman E, Otten BJ, Moll GW Jr, Stoelinga GB, Wit JM, Jansen M, Drop SL, Faas B, Ropers HH, et al. Kremer H, et al. Among authors: ropers hh. Hum Mol Genet. 1993 Nov;2(11):1779-83. doi: 10.1093/hmg/2.11.1779. Hum Mol Genet. 1993. PMID: 8281137

9

Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q.

Mariman EC, van Beersum SE, Cremers CW, van Baars FM, Ropers HH. Mariman EC, et al. Among authors: ropers hh. Hum Genet. 1993 May;91(4):357-61. doi: 10.1007/BF00217356. Hum Genet. 1993. PMID: 8388849

10

Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1.

Mariman EC, Gabreëls-Festen AA, van Beersum SE, Jongen PJ, Ropers HH, Gabreëls FJ. Mariman EC, et al. Among authors: ropers hh. Hum Genet. 1993 Aug;92(1):87-90. doi: 10.1007/BF00216152. Hum Genet. 1993. PMID: 8396068

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