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Items: 1 to 50 of 52

1.

GESPA: classifying nsSNPs to predict disease association.

Khurana JK, Reeder JE, Shrimpton AE, Thakar J.

BMC Bioinformatics. 2015 Jul 25;16:228. doi: 10.1186/s12859-015-0673-2.

2.

Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.

Barker SD, Bale S, Booker J, Buller A, Das S, Friedman K, Godwin AK, Grody WW, Highsmith E, Kant JA, Lyon E, Mao R, Monaghan KG, Payne DA, Pratt VM, Schrijver I, Shrimpton AE, Spector E, Telatar M, Toji L, Weck K, Zehnbauer B, Kalman LV.

J Mol Diagn. 2009 Nov;11(6):553-61. doi: 10.2353/jmoldx.2009.090078. Epub 2009 Sep 18.

3.

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.

Shrimpton AE, Hoopes RR Jr, Knohl SJ, Hueber P, Reed AA, Christie PT, Igarashi T, Lee P, Lehman A, White C, Milford DV, Sanchez MR, Unwin R, Wrong OM, Thakker RV, Scheinman SJ.

Nephron Physiol. 2009;112(2):p27-36. doi: 10.1159/000213506. Epub 2009 Apr 18.

PMID:
19390221
4.

Distal 3p deletion is not necessarily associated with dysmorphic features or psychomotor delay.

Hoo JJ, Shrimpton AE.

Am J Med Genet A. 2008 Feb 15;146A(4):538. doi: 10.1002/ajmg.a.32158. No abstract available.

PMID:
18203205
5.

A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.

Shrimpton AE, Schelper RL, Linke RP, Hardy J, Crook R, Dickson DW, Ishizawa T, Davis RL.

Neuropathology. 2007 Jun;27(3):228-32.

PMID:
17645236
6.

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

Shrimpton AE, Hoo JJ.

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

PMID:
16497570
7.
8.

Complete maternal uniparental isodisomy of chromosome 4 in a subject with major depressive disorder detected by high density SNP genotyping arrays.

Middleton FA, Trauzzi MG, Shrimpton AE, Gentile KL, Morley CP, Medeiros H, Pato MT, Pato CN.

Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141B(1):28-32.

PMID:
16331669
9.

Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes.

Bernacki SH, Beck JC, Muralidharan K, Schaefer FV, Shrimpton AE, Richie KL, Levin BC, Pont-Kingdon G, Stenzel TT.

Clin Chem. 2005 Nov;51(11):2156-9. No abstract available.

10.

Genetically characterized positive control cell lines derived from residual clinical blood samples.

Bernacki SH, Beck JC, Stankovic AK, Williams LO, Amos J, Snow-Bailey K, Farkas DH, Friez MJ, Hantash FM, Matteson KJ, Monaghan KG, Muralidharan K, Pratt VM, Prior TW, Richie KL, Levin BC, Rohlfs EM, Schaefer FV, Shrimpton AE, Spector EB, Stolle CA, Strom CM, Thibodeau SN, Cole EC, Goodman BK, Stenzel TT.

Clin Chem. 2005 Nov;51(11):2013-24. Epub 2005 Sep 15.

11.

Transformation of follicular lymphoma to Burkitt-like lymphoma within a single lymph node.

Mukhopadhyay S, Readling J, Cotter PD, Shrimpton AE, Sidhu JS.

Hum Pathol. 2005 May;36(5):571-5.

PMID:
15948125
12.

Dent Disease with mutations in OCRL1.

Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ.

Am J Hum Genet. 2005 Feb;76(2):260-7. Epub 2004 Dec 30. Erratum in: Am J Hum Genet. 2007 Sep;81(3):634.

13.

Familial hyper- and hypopigmentation with age-related pattern change.

Hoo JJ, Shrimpton AE.

Am J Med Genet A. 2005 Jan 15;132A(2):215-8. No abstract available.

PMID:
15551335
14.

Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype.

Shrimpton AE, Braddock BR, Thomson LL, Stein CK, Hoo JJ.

Clin Genet. 2004 Dec;66(6):537-44.

PMID:
15521982
15.

Congenital vertical talus in four generations of the same family.

Levinsohn EM, Shrimpton AE, Cady RB, Packard DS, Hootnick DR.

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

PMID:
15368082
16.

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

Henry JB, Hubbell CA, Davis MC, Fernandez-Vina MA, Yunis EJ, Shrimpton AE.

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

PMID:
15323134
17.

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

Shrimpton AE, Levinsohn EM, Yozawitz JM, Packard DS Jr, Cady RB, Middleton FA, Persico AM, Hootnick DR.

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

18.

Carcinosarcoma of the urinary bladder following cyclophosphamide therapy: evidence for monoclonal origin and chromosome 9p allelic loss.

Mukhopadhyay S, Shrimpton AE, Jones LA, Nsouli IS, Abraham NZ Jr.

Arch Pathol Lab Med. 2004 Jan;128(1):e8-11.

PMID:
14692829
19.

Bioelectronic sensor technology for detection of cystic fibrosis and hereditary hemochromatosis mutations.

Bernacki SH, Farkas DH, Shi W, Chan V, Liu Y, Beck JC, Bailey KS, Pratt VM, Monaghan KG, Matteson KJ, Schaefer FV, Friez M, Shrimpton AE, Stenzel TT.

Arch Pathol Lab Med. 2003 Dec;127(12):1565-72.

PMID:
14632577
20.

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

Hicks K, Beadling W, Shrimpton AE.

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

PMID:
12820707
21.

Primary central nervous system cytotoxic/suppressor T-cell lymphoma: report of a unique case and review of the literature.

Liu D, Schelper RL, Carter DA, Poiesz BJ, Shrimpton AE, Frankel BM, Hutchison RE.

Am J Surg Pathol. 2003 May;27(5):682-8.

PMID:
12717253
22.

Association between conformational mutations in neuroserpin and onset and severity of dementia.

Davis RL, Shrimpton AE, Carrell RW, Lomas DA, Gerhard L, Baumann B, Lawrence DA, Yepes M, Kim TS, Ghetti B, Piccardo P, Takao M, Lacbawan F, Muenke M, Sifers RN, Bradshaw CB, Kent PF, Collins GH, Larocca D, Holohan PD.

Lancet. 2002 Jun 29;359(9325):2242-7. Erratum in: Lancet 2002 Oct 5;360(9339):1102.

PMID:
12103288
23.

Molecular diagnosis of cystic fibrosis.

Shrimpton AE.

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

PMID:
12050863
24.

Inheritance of osteosarcoma and Paget's disease of bone: a familial loss of heterozygosity study.

McNairn JD, Damron TA, Landas SK, Ambrose JL, Shrimpton AE.

J Mol Diagn. 2001 Nov;3(4):171-7.

25.

Cognitive deficits associated with a recently reported familial neurodegenerative disease: familial encephalopathy with neuroserpin inclusion bodies.

Bradshaw CB, Davis RL, Shrimpton AE, Holohan PD, Rea CB, Fieglin D, Kent P, Collins GH.

Arch Neurol. 2001 Sep;58(9):1429-34.

PMID:
11559315
26.

A PCR assay for detecting clonal rearrangement of the TCR-gamma gene.

Lamberson C, Hutchison RE, Shrimpton AE.

Mol Diagn. 2001 Jun;6(2):117-24.

PMID:
11468696
27.
28.
29.

Narrowing the map of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature at Xq12-q21.31.

Shrimpton AE, Braddock BR, Hoo JJ.

Am J Med Genet. 2000 May 15;92(2):155-6. No abstract available.

PMID:
10797443
30.

Familial encephalopathy with neuroserpin inclusion bodies.

Davis RL, Holohan PD, Shrimpton AE, Tatum AH, Daucher J, Collins GH, Todd R, Bradshaw C, Kent P, Feiglin D, Rosenbaum A, Yerby MS, Shaw CM, Lacbawan F, Lawrence DA.

Am J Pathol. 1999 Dec;155(6):1901-13.

31.

Familial dementia caused by polymerization of mutant neuroserpin.

Davis RL, Shrimpton AE, Holohan PD, Bradshaw C, Feiglin D, Collins GH, Sonderegger P, Kinter J, Becker LM, Lacbawan F, Krasnewich D, Muenke M, Lawrence DA, Yerby MS, Shaw CM, Gooptu B, Elliott PR, Finch JT, Carrell RW, Lomas DA.

Nature. 1999 Sep 23;401(6751):376-9.

PMID:
10517635
32.
33.

Clinical News Update.

Shrimpton AE, Hicks K.

Mol Diagn. 1997 Jun;2(2):160. No abstract available.

PMID:
10462604
34.

Cystic fibrosis mutation frequencies in upstate New York.

Shrimpton AE, Borowitz D, Swender P.

Hum Mutat. 1997;10(6):436-42.

PMID:
9401006
35.

A mutation in CFTR produces different phenotypes depending on chromosomal background.

Kiesewetter S, Macek M Jr, Davis C, Curristin SM, Chu CS, Graham C, Shrimpton AE, Cashman SM, Tsui LC, Mickle J, et al.

Nat Genet. 1993 Nov;5(3):274-8.

PMID:
7506096
36.

Presymptomatic testing for autosomal dominant spinocerebellar ataxia type 1.

Shrimpton AE, Davidson R, MacDonald N, Brock DJ.

J Med Genet. 1993 Jul;30(7):616-7.

37.

Prenatal diagnosis for the cystic fibrosis mutation 1717-1, G-->A using arms.

Miedzybrodzka ZH, Kelly KF, Davidson M, Little S, Shrimpton AE, Dean JC, Haites NE.

Prenat Diagn. 1992 Oct;12(10):845-9.

PMID:
1475255
38.

Molecular screening of partners of cystic fibrosis heterozygotes.

Shrimpton AE, Brock DJ.

Genet Couns. 1992;3(1):13-8.

PMID:
1375470
39.

Non-paternity and prenatal genetic screening.

Brock DJ, Shrimpton AE.

Lancet. 1991 Nov 2;338(8775):1151. No abstract available.

PMID:
1682573
40.

Risk calculation in retinitis pigmentosa.

Holloway SM, Strain L, Shrimpton AE, Wright AF, Aldred MA, Brosnahan D, Hammer H, Jay M, Brock DJ.

Am J Hum Genet. 1991 Nov;49(5):1094-8. No abstract available.

41.

Linkage disequilibrium and recombination make a telomeric site for the Huntington's disease gene unlikely.

Barron L, Curtis A, Shrimpton AE, Holloway S, May H, Snell RG, Brock DJ.

J Med Genet. 1991 Aug;28(8):520-2.

42.

Isolation of probes specific to human chromosomal region 6p21 from immunoselected irradiation-fusion gene transfer hybrids.

Ragoussis J, Jones TA, Sheer D, Shrimpton AE, Goodfellow PN, Trowsdale J, Ziegler A.

Genomics. 1991 Jul;10(3):598-607.

PMID:
1909683
44.

Screening for carriers of cystic fibrosis.

Dean JC, Kelly KF, Miedzybrodzka Z, Shrimpton AE.

BMJ. 1991 Jan 5;302(6767):53. No abstract available. Erratum in: BMJ 1991 Jan 26;302(6770):240.

45.

Cystic fibrosis: the new genetics.

Brock DJ, Shrimpton AE, Jones C, McIntosh I.

J R Soc Med. 1991;84 Suppl 18:2-6. Review. No abstract available.

47.

Analysis of the Om(1D) locus in Drosophila ananassae.

Tanda S, Shrimpton AE, Hinton CW, Langley CH.

Genetics. 1989 Nov;123(3):495-502.

48.

Retrovirus-like features and site specific insertions of a transposable element, tom, in Drosophila ananassae.

Tanda S, Shrimpton AE, Chueh LL, Itayama H, Matsubayashi H, Saigo K, Tobari YN, Langley CH.

Mol Gen Genet. 1988 Nov;214(3):405-11.

PMID:
2851093
49.

Naturally occurring variation in the restriction map of the amy region of Drosophila melanogaster.

Langley CH, Shrimpton AE, Yamazaki T, Miyashita N, Matsuo Y, Aquadro CF.

Genetics. 1988 Jul;119(3):619-29.

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