Rappold GA - Search Results

1

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.

Schiller S, Spranger S, Schechinger B, Fukami M, Merker S, Drop SL, Tröger J, Knoblauch H, Kunze J, Seidel J, Rappold GA. Schiller S, et al. Among authors: rappold ga. Eur J Hum Genet. 2000 Jan;8(1):54-62. doi: 10.1038/sj.ejhg.5200402. Eur J Hum Genet. 2000. PMID: 10713888

2

Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.

Spranger S, Schiller S, Jauch A, Wolff K, Rauterberg-Ruland I, Hager D, Tariverdian G, Tröger J, Rappold G. Spranger S, et al. Am J Med Genet. 1999 Apr 23;83(5):367-71. doi: 10.1002/(sici)1096-8628(19990423)83:5<367::aid-ajmg5>3.0.co;2-k. Am J Med Genet. 1999. PMID: 10232745

3

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.

Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadoupoulou E, Reinehr T, Onigata K, Ogata T. Rappold GA, et al. J Clin Endocrinol Metab. 2002 Mar;87(3):1402-6. doi: 10.1210/jcem.87.3.8328. J Clin Endocrinol Metab. 2002. PMID: 11889216

4

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

5

Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height.

Spranger S, Kirsch S, Mertz A, Schiebel K, Tariverdian G, Rappold GA. Spranger S, et al. Among authors: rappold ga. Clin Genet. 1997 May;51(5):346-50. doi: 10.1111/j.1399-0004.1997.tb02486.x. Clin Genet. 1997. PMID: 9212185

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

SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development.

Blaschke RJ, Monaghan AP, Schiller S, Schechinger B, Rao E, Padilla-Nash H, Ried T, Rappold GA. Blaschke RJ, et al. Among authors: rappold ga. Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2406-11. doi: 10.1073/pnas.95.5.2406. Proc Natl Acad Sci U S A. 1998. PMID: 9482898 Free PMC article.

8

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, Robson SC, Binder G, Glass I, Strachan T, Lindsay S, Rappold GA. Clement-Jones M, et al. Among authors: rappold ga. Hum Mol Genet. 2000 Mar 22;9(5):695-702. doi: 10.1093/hmg/9.5.695. Hum Mol Genet. 2000. PMID: 10749976

9

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.

10

Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation.

Seidel J, Schiller S, Kelbova C, Beensen V, Orth U, Vogt S, Claussen U, Zintl F, Rappold GA. Seidel J, et al. Among authors: rappold ga. Clin Genet. 2001 Feb;59(2):115-21. doi: 10.1034/j.1399-0004.2001.590209.x. Clin Genet. 2001. PMID: 11260213

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