Gecz J - Search Results

1

A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.

Tiller GE, Hannig VL, Dozier D, Carrel L, Trevarthen KC, Wilcox WR, Mundlos S, Haines JL, Gedeon AK, Gecz J. Tiller GE, et al. Among authors: gecz j. Am J Hum Genet. 2001 Jun;68(6):1398-407. doi: 10.1086/320594. Epub 2001 Apr 26. Am J Hum Genet. 2001. PMID: 11326333 Free PMC article.

2

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC. Gedeon AK, et al. Among authors: gecz j. Am J Hum Genet. 2001 Jun;68(6):1386-97. doi: 10.1086/320592. Epub 2001 May 8. Am J Hum Genet. 2001. PMID: 11349230 Free PMC article.

3

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.

Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE, Mulley JC, Gécz J. Gedeon AK, et al. Among authors: gecz j. Nat Genet. 1999 Aug;22(4):400-4. doi: 10.1038/11976. Nat Genet. 1999. PMID: 10431248

4

Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.

Gécz J, Hillman MA, Gedeon AK, Cox TC, Baker E, Mulley JC. Gécz J, et al. Genomics. 2000 Oct 15;69(2):242-51. doi: 10.1006/geno.2000.6326. Genomics. 2000. PMID: 11031107

5

Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE.

Gedeon AK, Meinänen M, Adès LC, Kääriäinen H, Gécz J, Baker E, Sutherland GR, Mulley JC. Gedeon AK, et al. Among authors: gecz j. Am J Hum Genet. 1995 Apr;56(4):907-14. Am J Hum Genet. 1995. PMID: 7536393 Free PMC article.

6

Identification of the gene FMR2, associated with FRAXE mental retardation.

Gecz J, Gedeon AK, Sutherland GR, Mulley JC. Gecz J, et al. Nat Genet. 1996 May;13(1):105-8. doi: 10.1038/ng0596-105. Nat Genet. 1996. PMID: 8673085

7

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation.

Lossi AM, Laugier-Anfossi F, Depetris D, Gecz J, Gedeon A, Kooy F, Schwartz C, Mattei MG, Croquette MF, Villard L. Lossi AM, et al. Among authors: gecz j. J Med Genet. 2002 Feb;39(2):113-7. doi: 10.1136/jmg.39.2.113. J Med Genet. 2002. PMID: 11836360 Free PMC article.

8

Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.

Shaw MA, Brunetti-Pierri N, Kádasi L, Kovácová V, Van Maldergem L, De Brasi D, Salerno M, Gécz J. Shaw MA, et al. Among authors: gecz j. Clin Genet. 2003 Sep;64(3):235-42. doi: 10.1034/j.1399-0004.2003.00132.x. Clin Genet. 2003. PMID: 12919139 Review.

9

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.

Villard L, Toutain A, Lossi AM, Gecz J, Houdayer C, Moraine C, Fontès M. Villard L, et al. Among authors: gecz j. Am J Hum Genet. 1996 Mar;58(3):499-505. Am J Hum Genet. 1996. PMID: 8644709 Free PMC article.

10

The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects.

Gecz J. Gecz J. Ann Hum Genet. 2000 Mar;64(Pt 2):95-106. doi: 10.1017/S0003480000007983. Ann Hum Genet. 2000. PMID: 11246464 Review.

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