Rappold GA - Search Results

1

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.

2

Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome.

Kirsch S, Weiss B, Zumbach K, Rappold G. Kirsch S, et al. Hum Genet. 2004 Jan;114(2):173-81. doi: 10.1007/s00439-003-1028-z. Epub 2003 Oct 25. Hum Genet. 2004. PMID: 14579146

3

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

4

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

5

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.

Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. Rao E, et al. Among authors: rappold ga. Nat Genet. 1997 May;16(1):54-63. doi: 10.1038/ng0597-54. Nat Genet. 1997. PMID: 9140395

6

FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes.

Rao E, Weiss B, Fukami M, Mertz A, Meder J, Ogata T, Heinrich U, Garcia-Heras J, Schiebel K, Rappold GA. Rao E, et al. Among authors: rappold ga. Hum Genet. 1997 Aug;100(2):236-9. doi: 10.1007/s004390050497. Hum Genet. 1997. PMID: 9254856

7

FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY.

Kirsch S, Weiss B, De Rosa M, Ogata T, Lombardi G, Rappold GA. Kirsch S, et al. Among authors: rappold ga. J Med Genet. 2000 Aug;37(8):593-9. doi: 10.1136/jmg.37.8.593. J Med Genet. 2000. PMID: 10922386 Free PMC article.

8

The definition of the Y chromosome growth-control gene (GCY) critical region: relevance of terminal and interstitial deletions.

Kirsch S, Weiss B, Schön K, Rappold GA. Kirsch S, et al. Among authors: rappold ga. J Pediatr Endocrinol Metab. 2002 Dec;15 Suppl 5:1295-300. J Pediatr Endocrinol Metab. 2002. PMID: 12510983

9

Complex evolution of a Y-chromosomal double homeobox 4 (DUX4)-related gene family in hominoids.

Schmidt J, Kirsch S, Rappold GA, Schempp W. Schmidt J, et al. Among authors: rappold ga. PLoS One. 2009;4(4):e5288. doi: 10.1371/journal.pone.0005288. Epub 2009 Apr 30. PLoS One. 2009. PMID: 19404400 Free PMC article.

10

The human SHOX mutation database.

Niesler B, Fischer C, Rappold GA. Niesler B, et al. Among authors: rappold ga. Hum Mutat. 2002 Nov;20(5):338-41. doi: 10.1002/humu.10125. Hum Mutat. 2002. PMID: 12402330

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