Ropers HH - Search Results

1

Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings.

Hamel BC, Smits AP, Otten BJ, van den Helm B, Ropers HH, Mariman EC. Hamel BC, et al. Among authors: ropers hh. Am J Med Genet. 1996 Jul 12;64(1):35-41. doi: 10.1002/(SICI)1096-8628(19960712)64:1<35::AID-AJMG5>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8826446 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

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

8

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

9

Localization of the gene for Cowden disease to chromosome 10q22-23.

Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C. Nelen MR, et al. Among authors: ropers hh. Nat Genet. 1996 May;13(1):114-6. doi: 10.1038/ng0596-114. Nat Genet. 1996. PMID: 8673088 Free article.

10

A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28.

Hamel BC, Kremer H, Wesby-van Swaay E, van den Helm B, Smits AP, Oostra BA, Ropers HH, Mariman EC. Hamel BC, et al. Among authors: ropers hh. Am J Med Genet. 1996 Jul 12;64(1):131-3. doi: 10.1002/(SICI)1096-8628(19960712)64:1<131::AID-AJMG22>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8826463 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

427 results

Search Page

Filters