Publications by authors named "Antony E Shrimpton"

19Publications

GESPA: classifying nsSNPs to predict disease association.

BMC Bioinformatics 2015 Jul 25;16:228. Epub 2015 Jul 25.

Department of Microbiology and Immunology, University of Rochester, Rochester, NY, USA.

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July 2015

A TNNI2 mutation in a family with distal arthrogryposis type 2B.

Eur J Med Genet 2006 Mar-Apr;49(2):201-6. Epub 2005 Jul 11.

Department of Pathology, SUNY Upstate Medical University, 750 E. Adams St., Syracuse, NY 13210, USA.

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April 2009

Dent Disease with mutations in OCRL1.

Am J Hum Genet 2005 Feb 30;76(2):260-7. Epub 2004 Dec 30.

Department of Medicine, SUNY Upstate Medical University, Syracuse, NY, USA.

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February 2005

Congenital vertical talus in four generations of the same family.

Skeletal Radiol 2004 Nov 11;33(11):649-54. Epub 2004 Sep 11.

Department of Medical Imaging, Crouse Hospital, 736 Irving Ave., Syracuse, NY 13210, USA.

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November 2004

A new HLA-A1 mutation: a novel, null variant allele.

Am J Clin Pathol 2004 Aug;122(2):185-92

Department of Pathology, SUNY Upstate Medical University, Syracuse, NY 13210, USA.

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August 2004

A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.

Am J Hum Genet 2004 Jul 14;75(1):92-6. Epub 2004 May 14.

Department of Clinical Pathology, State University of New York, Upstate Medical University, Syracuse, 13210, USA.

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July 2004

Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508.

Genet Test 2003 ;7(1):73-6

Department of Clinical Pathology, SUNY Upstate Medical University, Syracuse, NY 13210, USA.

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November 2003

Molecular diagnosis of cystic fibrosis.

Expert Rev Mol Diagn 2002 May;2(3):240-56

SUNY Upstate Medical University, 750E Adams Street, Syracuse, NY 13210, USA.

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May 2002