Sutherland GR - Search Results

1

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J. Dibbens LM, et al. Among authors: sutherland gr. Nat Genet. 2008 Jun;40(6):776-81. doi: 10.1038/ng.149. Epub 2008 May 11. Nat Genet. 2008. PMID: 18469813 Free PMC article.

2

Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.

Turner G, Gedeon A, Mulley J, Sutherland G, Rae J, Power K, Arthur I. Turner G, et al. Am J Med Genet. 1989 Dec;34(4):463-9. doi: 10.1002/ajmg.1320340402. Am J Med Genet. 1989. PMID: 2624253

3

High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome.

Fang YY, Bain S, Haan EA, Eyre HJ, MacDonald M, Wright TJ, Altherr MR, Riess O, Sutherland G, Callen DF. Fang YY, et al. Am J Med Genet. 1997 Sep 5;71(4):453-7. Am J Med Genet. 1997. PMID: 9286454

4

Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.

Baker E, Hinton L, Callen DF, Altree M, Dobbie A, Eyre HJ, Sutherland GR, Thompson E, Thompson P, Woollatt E, Haan E. Baker E, et al. Among authors: sutherland gr. Am J Med Genet. 2002 Feb 1;107(4):285-93. doi: 10.1002/ajmg.10159. Am J Med Genet. 2002. PMID: 11840484

5

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gécz J. Strømme P, et al. Among authors: sutherland gr. Nat Genet. 2002 Apr;30(4):441-5. doi: 10.1038/ng862. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889467

6

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: sutherland gr. 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.

7

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.

Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC. Dibbens LM, et al. Among authors: sutherland gr. Hum Mol Genet. 2004 Jul 1;13(13):1315-9. doi: 10.1093/hmg/ddh146. Epub 2004 Apr 28. Hum Mol Genet. 2004. PMID: 15115768

8

Is there a relationship between Wolfram syndrome carrier status and suicide?

Crawford J, Zielinski MA, Fisher LJ, Sutherland GR, Goldney RD. Crawford J, et al. Among authors: sutherland gr. Am J Med Genet. 2002 Apr 8;114(3):343-6. doi: 10.1002/ajmg.10256. Am J Med Genet. 2002. PMID: 11920861

9

Karyotypes found in the population declared at increased risk of Down syndrome following maternal serum screening.

Ryall RG, Callen D, Cocciolone R, Duvnjak A, Esca R, Frantzis N, Gjerde EM, Haan EA, Hocking T, Sutherland G, Thomas DW, Webb F. Ryall RG, et al. Prenat Diagn. 2001 Jul;21(7):553-7. doi: 10.1002/pd.108. Prenat Diagn. 2001. PMID: 11494290

10

Nxf and Fbxo33: novel seizure-responsive genes in mice.

Flood WD, Moyer RW, Tsykin A, Sutherland GR, Koblar SA. Flood WD, et al. Among authors: sutherland gr. Eur J Neurosci. 2004 Oct;20(7):1819-26. doi: 10.1111/j.1460-9568.2004.03646.x. Eur J Neurosci. 2004. PMID: 15380003

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