Sutherland G - Search Results

1

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. Among authors: sutherland g. Am J Med Genet. 1989 Dec;34(4):463-9. doi: 10.1002/ajmg.1320340402. Am J Med Genet. 1989. PMID: 2624253

2

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. Among authors: sutherland g. Am J Med Genet. 1997 Sep 5;71(4):453-7. Am J Med Genet. 1997. PMID: 9286454

3

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. Am J Med Genet. 2002 Feb 1;107(4):285-93. doi: 10.1002/ajmg.10159. Am J Med Genet. 2002. PMID: 11840484

4

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

5

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. 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

6

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.

7

Mapping of a cerebellar degeneration related protein and DXS304 around the fragile site.

Hirst MC, Bell MV, MacKinnon RN, Watson JE, Callen D, Sutherland G, Dahl N, Patterson MN, Schwartz C, Ledbetter D, et al. Hirst MC, et al. Among authors: sutherland g. Am J Med Genet. 1991 Feb-Mar;38(2-3):354-6. doi: 10.1002/ajmg.1320380238. Am J Med Genet. 1991. PMID: 1673311

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. Am J Med Genet. 2002 Apr 8;114(3):343-6. doi: 10.1002/ajmg.10256. Am J Med Genet. 2002. PMID: 11920861

9

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.

10

Personal journeys to and in human genetics and dysmorphology.

Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM Jr, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, Johnson J, Keppler-Noreuil KM, Leroy JG, Moore C, Nelson DL, Neri G, Opitz JM, Picketts D, Raymond FL, Shalev SA, Stevenson RE, Stumpel CTRM, Sutherland G, Viskochil DH, Weaver DD, Zackai EH. Schwartz CE, et al. Among authors: sutherland g. Am J Med Genet A. 2024 Jun;194(6):e63514. doi: 10.1002/ajmg.a.63514. Epub 2024 Feb 8. Am J Med Genet A. 2024. PMID: 38329159

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