Gedeon AK - Search Results

1

A novel X-linked gene, G4.5. is responsible for Barth syndrome.

Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. Bione S, et al. Among authors: gedeon ak. Nat Genet. 1996 Apr;12(4):385-9. doi: 10.1038/ng0496-385. Nat Genet. 1996. PMID: 8630491

2

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

D'Adamo P, Fassone L, Gedeon A, Janssen EA, Bione S, Bolhuis PA, Barth PG, Wilson M, Haan E, Orstavik KH, Patton MA, Green AJ, Zammarchi E, Donati MA, Toniolo D. D'Adamo P, et al. Am J Hum Genet. 1997 Oct;61(4):862-7. doi: 10.1086/514886. Am J Hum Genet. 1997. PMID: 9382096 Free PMC article.

3

X chromosome inactivation in carriers of Barth syndrome.

Orstavik KH, Orstavik RE, Naumova AK, D'Adamo P, Gedeon A, Bolhuis PA, Barth PG, Toniolo D. Orstavik KH, et al. Among authors: gedeon a. Am J Hum Genet. 1998 Nov;63(5):1457-63. doi: 10.1086/302095. Am J Hum Genet. 1998. PMID: 9792874 Free PMC article.

4

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

D'Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M, Tamanini F, Bienvenu T, Gedeon AK, Oostra B, Wu SK, Tandon A, Valtorta F, Balch WE, Chelly J, Toniolo D. D'Adamo P, et al. Among authors: gedeon ak. Nat Genet. 1998 Jun;19(2):134-9. doi: 10.1038/487. Nat Genet. 1998. PMID: 9620768

5

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. Nat Genet. 1999 Aug;22(4):400-4. doi: 10.1038/11976. Nat Genet. 1999. PMID: 10431248

6

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.

Gedeon AK, Wilson MJ, Colley AC, Sillence DO, Mulley JC. Gedeon AK, et al. J Med Genet. 1995 May;32(5):383-8. doi: 10.1136/jmg.32.5.383. J Med Genet. 1995. PMID: 7616547 Free PMC article.

7

Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.

Adès LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, Nelson J, Lui K, Sillence DO. Adès LC, et al. Among authors: gedeon ak. Am J Med Genet. 1993 Feb 1;45(3):327-34. doi: 10.1002/ajmg.1320450309. Am J Med Genet. 1993. PMID: 8434619

8

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gécz J. Lower KM, et al. Among authors: gedeon ak. Nat Genet. 2002 Dec;32(4):661-5. doi: 10.1038/ng1040. Epub 2002 Nov 4. Nat Genet. 2002. PMID: 12415272

9

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: gedeon ak. 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.

10

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

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

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