Donnelly A - Search Results

1

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.

Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox J, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O'Meara S, Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson R, Schwartz C, Young I, Easton D, Bobrow M, Futreal PA, Stratton MR, Gecz J, Wooster R, Raymond FL. Tarpey P, et al. Among authors: donnelly a. Am J Hum Genet. 2004 Aug;75(2):318-24. doi: 10.1086/422703. Epub 2004 Jun 7. Am J Hum Genet. 2004. PMID: 15185169 Free PMC article.

2

Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31).

Donnelly AJ, Partington MW, Ryan AK, Mulley JC. Donnelly AJ, et al. Am J Med Genet. 1996 Jul 12;64(1):113-20. doi: 10.1002/(SICI)1096-8628(19960712)64:1<113::AID-AJMG19>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8826460

3

How many X-linked genes for non-specific mental retardation (MRX) are there?

Gedeon AK, Donnelly AJ, Mulley JC, Kerr B, Turner G. Gedeon AK, et al. Among authors: donnelly aj. Am J Med Genet. 1996 Jul 12;64(1):158-62. doi: 10.1002/(SICI)1096-8628(19960712)64:1<158::AID-AJMG26>3.0.CO;2-L. Am J Med Genet. 1996. PMID: 8826466 Review. No abstract available.

4

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.

Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gécz J. Kalscheuer VM, et al. Among authors: donnelly a. Am J Hum Genet. 2003 Jun;72(6):1401-11. doi: 10.1086/375538. Epub 2003 May 7. Am J Hum Genet. 2003. PMID: 12736870 Free PMC article.

5

Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis.

Gedeon AK, Mulley JC, Kozman H, Donnelly A, Partington MW. Gedeon AK, et al. Among authors: donnelly a. Am J Med Genet. 1994 Aug 1;52(1):75-8. doi: 10.1002/ajmg.1320520115. Am J Med Genet. 1994. PMID: 7977467

6

Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22.

Donnelly AJ, Choo KH, Kozman HM, Gedeon AK, Danks DM, Mulley JC. Donnelly AJ, et al. Am J Med Genet. 1994 Jul 15;51(4):581-5. doi: 10.1002/ajmg.1320510457. Am J Med Genet. 1994. PMID: 7943043

7

Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient.

Gecz J, Baker E, Donnelly A, Ming JE, McDonald-McGinn DM, Spinner NB, Zackai EH, Sutherland GR, Mulley JC. Gecz J, et al. Among authors: donnelly a. Hum Genet. 1999 Jan;104(1):56-63. doi: 10.1007/s004390050910. Hum Genet. 1999. PMID: 10071193

8

Fragile-X syndrome: unique genetics of the heritable unstable element.

Yu S, Mulley J, Loesch D, Turner G, Donnelly A, Gedeon A, Hillen D, Kremer E, Lynch M, Pritchard M, et al. Yu S, et al. Among authors: donnelly a. Am J Hum Genet. 1992 May;50(5):968-80. Am J Hum Genet. 1992. PMID: 1570846 Free PMC article.

9

A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. Mutation in brief no. 125. Online.

Donnelly A, Haan E, Manson J, Mulley J. Donnelly A, et al. Hum Mutat. 1998;11(4):334. doi: 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU20>3.0.CO;2-#. Hum Mutat. 1998. PMID: 10215413

10

Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation.

Gécz J, Barnett S, Liu J, Hollway G, Donnelly A, Eyre H, Eshkevari HS, Baltazar R, Grunn A, Nagaraja R, Gilliam C, Peltonen L, Sutherland GR, Baron M, Mulley JC. Gécz J, et al. Among authors: donnelly a. Genomics. 1999 Dec 15;62(3):356-68. doi: 10.1006/geno.1999.6032. Genomics. 1999. PMID: 10644433

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