Rappold GA - Search Results

1

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.

Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A. Franco B, et al. Among authors: rappold ga. Cell. 1995 Apr 7;81(1):15-25. doi: 10.1016/0092-8674(95)90367-4. Cell. 1995. PMID: 7720070 Free article.

2

High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1).

Wang I, Franco B, Ferrero GB, Chinault AC, Weissenbach J, Chumakov I, Le Paslier D, Levilliers J, Klink A, Rappold GA, Ballabio A, Petit C. Wang I, et al. Among authors: rappold ga. Genomics. 1995 Mar 20;26(2):229-38. doi: 10.1016/0888-7543(95)80205-z. Genomics. 1995. PMID: 7601447

3

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation.

Fukami M, Kirsch S, Schiller S, Richter A, Benes V, Franco B, Muroya K, Rao E, Merker S, Niesler B, Ballabio A, Ansorge W, Ogata T, Rappold GA. Fukami M, et al. Among authors: rappold ga. Am J Hum Genet. 2000 Sep;67(3):563-73. doi: 10.1086/303047. Epub 2000 Jul 20. Am J Hum Genet. 2000. PMID: 10903929 Free PMC article.

4

Comparative mapping of Xp22 genes in hominoids--evolutionary linear instability of their Y homologues.

Gläser B, Grützner F, Taylor K, Schiebel K, Meroni G, Tsioupra K, Pasantes J, Rietschel W, Toder R, Willmann U, Zeitler S, Yen P, Ballabio A, Rappold G, Schempp W. Gläser B, et al. Chromosome Res. 1997 May;5(3):167-76. doi: 10.1023/a:1018490713273. Chromosome Res. 1997. PMID: 9246409

5

Chromosomal localisation of a pseudoautosomal growth gene(s).

Ogata T, Petit C, Rappold G, Matsuo N, Matsumoto T, Goodfellow P. Ogata T, et al. J Med Genet. 1992 Sep;29(9):624-8. doi: 10.1136/jmg.29.9.624. J Med Genet. 1992. PMID: 1404292 Free PMC article.

6

Physical mapping of 14 new DNA markers isolated from the human distal Xp region.

Wapenaar MC, Petit C, Basler E, Ballabio A, Henke A, Rappold GA, van Paassen HM, Blonden LA, van Ommen GJ. Wapenaar MC, et al. Among authors: rappold ga. Genomics. 1992 May;13(1):167-75. doi: 10.1016/0888-7543(92)90217-g. Genomics. 1992. PMID: 1349572

7

Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females.

Schiebel K, Winkelmann M, Mertz A, Xu X, Page DC, Weil D, Petit C, Rappold GA. Schiebel K, et al. Among authors: rappold ga. Hum Mol Genet. 1997 Oct;6(11):1985-9. doi: 10.1093/hmg/6.11.1985. Hum Mol Genet. 1997. PMID: 9302280

8

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus.

Muroya K, Ogata T, Matsuo N, Nagai T, Franco B, Ballabio A, Rappold G, Sakura N, Fukushima Y. Muroya K, et al. Am J Med Genet. 1996 Sep 6;64(4):583-7. doi: 10.1002/(SICI)1096-8628(19960906)64:4<583::AID-AJMG11>3.0.CO;2-D. Am J Med Genet. 1996. PMID: 8870926

9

Elevated DNA sequence diversity in the genomic region of the phosphatase PPP2R3L gene in the human pseudoautosomal region.

Schiebel K, Meder J, Rump A, Rosenthal A, Winkelmann M, Fischer C, Bonk T, Humeny A, Rappold G. Schiebel K, et al. Cytogenet Cell Genet. 2000;91(1-4):224-30. doi: 10.1159/000056849. Cytogenet Cell Genet. 2000. PMID: 11173861

10

The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability.

Klink A, Schiebel K, Winkelmann M, Rao E, Horsthemke B, Lüdecke HJ, Claussen U, Scherer G, Rappold G. Klink A, et al. Hum Mol Genet. 1995 May;4(5):869-78. doi: 10.1093/hmg/4.5.869. Hum Mol Genet. 1995. PMID: 7633447

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