Ropers HH - Search Results

1

MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.

Trockenbacher A, Suckow V, Foerster J, Winter J, Krauss S, Ropers HH, Schneider R, Schweiger S. Trockenbacher A, et al. Among authors: ropers hh. Nat Genet. 2001 Nov;29(3):287-94. doi: 10.1038/ng762. Nat Genet. 2001. PMID: 11685209

2

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.

Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A. Quaderi NA, et al. Among authors: ropers hh. Nat Genet. 1997 Nov;17(3):285-91. doi: 10.1038/ng1197-285. Nat Genet. 1997. PMID: 9354791 Free article.

3

The Opitz syndrome gene product, MID1, associates with microtubules.

Schweiger S, Foerster J, Lehmann T, Suckow V, Muller YA, Walter G, Davies T, Porter H, van Bokhoven H, Lunt PW, Traub P, Ropers HH. Schweiger S, et al. Among authors: ropers hh. Proc Natl Acad Sci U S A. 1999 Mar 16;96(6):2794-9. doi: 10.1073/pnas.96.6.2794. Proc Natl Acad Sci U S A. 1999. PMID: 10077590 Free PMC article.

4

DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner.

Scheer MP, van der Maarel S, Kübart S, Schulz A, Wirth J, Schweiger S, Ropers H, Nothwang HG. Scheer MP, et al. Genomics. 2000 Jan 1;63(1):123-32. doi: 10.1006/geno.1999.6027. Genomics. 2000. PMID: 10662551

5

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.

Carrié A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Howell GR, Whittaker A, Ross MT, Kahn A, Fryns JP, Beldjord C, Marynen P, Chelly J. Carrié A, et al. Among authors: ropers hh. Nat Genet. 1999 Sep;23(1):25-31. doi: 10.1038/12623. Nat Genet. 1999. PMID: 10471494

6

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.

Kutsche K, Yntema H, Brandt A, Jantke I, Nothwang HG, Orth U, Boavida MG, David D, Chelly J, Fryns JP, Moraine C, Ropers HH, Hamel BC, van Bokhoven H, Gal A. Kutsche K, et al. Among authors: ropers hh. Nat Genet. 2000 Oct;26(2):247-50. doi: 10.1038/80002. Nat Genet. 2000. PMID: 11017088

7

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.

8

Isolation of a candidate gene for Norrie disease by positional cloning.

Berger W, Meindl A, van de Pol TJ, Cremers FP, Ropers HH, Döerner C, Monaco A, Bergen AA, Lebo R, Warburg M, et al. Berger W, et al. Among authors: ropers hh. Nat Genet. 1992 Jun;1(3):199-203. doi: 10.1038/ng0692-199. Nat Genet. 1992. PMID: 1303235

9

Cloning and characterization of the human choroideremia gene.

van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP. van Bokhoven H, et al. Among authors: ropers hh. Hum Mol Genet. 1994 Jul;3(7):1041-6. doi: 10.1093/hmg/3.7.1041. Hum Mol Genet. 1994. PMID: 7981670

10

Localization of X chromosome short arm markers relative to synovial sarcoma- and renal adenocarcinoma-associated translocation breakpoints.

Sinke RJ, de Leeuw B, Janssen HA, Weghuis DO, Suijkerbuijk RF, Meloni AM, Gilgenkrantz S, Berger W, Ropers HH, Sandberg AA, et al. Sinke RJ, et al. Among authors: ropers hh. Hum Genet. 1993 Oct 1;92(3):305-8. doi: 10.1007/BF00244478. Hum Genet. 1993. PMID: 8406438

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