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Items: 1 to 50 of 118

1.

High-Throughput Mass Spectrometry Assay for Quantifying β-Amyloid 40 and 42 in Cerebrospinal Fluid.

Weber DM, Tran D, Goldman SM, Taylor SW, Ginns EI, Lagier RJ, Rissman RA, Brewer JB, Clarke NJ.

Clin Chem. 2019 Dec;65(12):1572-1580. doi: 10.1373/clinchem.2018.300947. Epub 2019 Oct 18.

PMID:
31628138
2.

Author Correction: Applications and efficiencies of the first cat 63 K DNA array.

Gandolfi B, Alhaddad H, Abdi M, Bach LH, Creighton EK, Davis BW, Decker JE, Dodman NH, Ginns EI, Grahn JC, Grahn RA, Haase B, Haggstrom J, Hamilton MJ, Helps CR, Kurushima JD, Lohi H, Longeri M, Malik R, Meurs KM, Montague MJ, Mullikin JC, Murphy WJ, Nilson SM, Pedersen NC, Peterson CB, Rusbridge C, Saif R, Shelton GD, Warren WC, Wasim M, Lyons LA.

Sci Rep. 2019 Mar 12;9(1):4664. doi: 10.1038/s41598-018-38073-6.

3.

Author Correction: Applications and efficiencies of the first cat 63K DNA array.

Gandolfi B, Alhaddad H, Abdi M, Bach LH, Creighton EK, Davis BW, Decker JE, Dodman NH, Ginns EI, Grahn JC, Grahn RA, Haase B, Haggstrom J, Hamilton MJ, Helps CR, Kurushima JD, Lohi H, Longeri M, Malik R, Meurs KM, Montague MJ, Mullikin JC, Murphy WJ, Nilson SM, Pedersen NC, Peterson CB, Rusbridge C, Saif R, Shelton GD, Warren WC, Wasim M, Lyons LA.

Sci Rep. 2018 Jun 4;8(1):8746. doi: 10.1038/s41598-018-26885-5.

4.

Applications and efficiencies of the first cat 63K DNA array.

Gandolfi B, Alhaddad H, Abdi M, Bach LH, Creighton EK, Davis BW, Decker JE, Dodman NH, Ginns EI, Grahn JC, Grahn RA, Haase B, Haggstrom J, Hamilton MJ, Helps CR, Kurushima JD, Lohi H, Longeri M, Malik R, Meurs KM, Montague MJ, Mullikin JC, Murphy WJ, Nilson SM, Pedersen NC, Peterson CB, Rusbridge C, Saif R, Shelton GD, Warren WC, Wasim M, Lyons LA.

Sci Rep. 2018 May 4;8(1):7024. doi: 10.1038/s41598-018-25438-0. Erratum in: Sci Rep. 2018 Jun 4;8(1):8746. Sci Rep. 2019 Mar 12;9(1):4664.

5.
6.

Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course.

Tayebi N, Parisiadou L, Berhe B, Gonzalez AN, Serra-Vinardell J, Tamargo RJ, Maniwang E, Sorrentino Z, Fujiwara H, Grey RJ, Hassan S, Blech-Hermoni YN, Chen C, McGlinchey R, Makariou-Pikis C, Brooks M, Ginns EI, Ory DS, Giasson BI, Sidransky E.

Mol Genet Metab. 2017 Dec;122(4):198-208. doi: 10.1016/j.ymgme.2017.11.001. Epub 2017 Nov 21.

7.

DNA Methylation Signatures of Early Childhood Malnutrition Associated With Impairments in Attention and Cognition.

Peter CJ, Fischer LK, Kundakovic M, Garg P, Jakovcevski M, Dincer A, Amaral AC, Ginns EI, Galdzicka M, Bryce CP, Ratner C, Waber DP, Mokler D, Medford G, Champagne FA, Rosene DL, McGaughy JA, Sharp AJ, Galler JR, Akbarian S.

Biol Psychiatry. 2016 Nov 15;80(10):765-774. doi: 10.1016/j.biopsych.2016.03.2100. Epub 2016 Mar 26.

8.

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease.

Westbroek W, Nguyen M, Siebert M, Lindstrom T, Burnett RA, Aflaki E, Jung O, Tamargo R, Rodriguez-Gil JL, Acosta W, Hendrix A, Behre B, Tayebi N, Fujiwara H, Sidhu R, Renvoise B, Ginns EI, Dutra A, Pak E, Cramer C, Ory DS, Pavan WJ, Sidransky E.

Dis Model Mech. 2016 Jul 1;9(7):769-78. doi: 10.1242/dmm.024588. Epub 2016 May 19.

9.

Disruption of sonic hedgehog signaling in Ellis-van Creveld dwarfism confers protection against bipolar affective disorder.

Ginns EI, Galdzicka M, Elston RC, Song YE, Paul SM, Egeland JA.

Mol Psychiatry. 2015 Oct;20(10):1212-8. doi: 10.1038/mp.2014.118. Epub 2014 Oct 14.

PMID:
25311364
10.

Neuroinflammation and α-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction.

Ginns EI, Mak SK, Ko N, Karlgren J, Akbarian S, Chou VP, Guo Y, Lim A, Samuelsson S, LaMarca ML, Vazquez-DeRose J, Manning-Boğ AB.

Mol Genet Metab. 2014 Feb;111(2):152-62. doi: 10.1016/j.ymgme.2013.12.003. Epub 2013 Dec 11.

PMID:
24388731
11.

Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes.

Moya PR, Dodman NH, Timpano KR, Rubenstein LM, Rana Z, Fried RL, Reichardt LF, Heiman GA, Tischfield JA, King RA, Galdzicka M, Ginns EI, Wendland JR.

Eur J Hum Genet. 2013 Aug;21(8):850-4. doi: 10.1038/ejhg.2012.245. Epub 2013 Jan 16.

12.

Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.

Chan A, Holleran WM, Ferguson T, Crumrine D, Goker-Alpan O, Schiffmann R, Tayebi N, Ginns EI, Elias PM, Sidransky E.

Mol Genet Metab. 2011 Dec;104(4):631-6. doi: 10.1016/j.ymgme.2011.09.008. Epub 2011 Sep 16.

13.

A canine chromosome 7 locus confers compulsive disorder susceptibility.

Dodman NH, Karlsson EK, Moon-Fanelli A, Galdzicka M, Perloski M, Shuster L, Lindblad-Toh K, Ginns EI.

Mol Psychiatry. 2010 Jan;15(1):8-10. doi: 10.1038/mp.2009.111. No abstract available.

PMID:
20029408
14.

Therapy for Gaucher disease: don't stop thinking about tomorrow.

Sidransky E, LaMarca ME, Ginns EI.

Mol Genet Metab. 2007 Feb;90(2):122-5. Epub 2006 Nov 3. Review.

PMID:
17084653
15.

DNA targeting of rhinal cortex D2 receptor protein reversibly blocks learning of cues that predict reward.

Liu Z, Richmond BJ, Murray EA, Saunders RC, Steenrod S, Stubblefield BK, Montague DM, Ginns EI.

Proc Natl Acad Sci U S A. 2004 Aug 17;101(33):12336-41. Epub 2004 Aug 9.

16.

A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.

Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, Egeland JA, Ginns EI.

Mol Genet Metab. 2002 Dec;77(4):291-5.

PMID:
12468274
17.

Vasopressin V1b receptor knockout reduces aggressive behavior in male mice.

Wersinger SR, Ginns EI, O'Carroll AM, Lolait SJ, Young WS 3rd.

Mol Psychiatry. 2002;7(9):975-84.

18.

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype.

Orvisky E, Park JK, LaMarca ME, Ginns EI, Martin BM, Tayebi N, Sidransky E.

Mol Genet Metab. 2002 Aug;76(4):262-70.

PMID:
12208131
19.

Absence of a significant linkage between Na(+),K(+)-ATPase subunit (ATP1A3 and ATP1B3) genotypes and bipolar affective disorder in the old-order Amish.

Philibert RA, Cheung D, Welsh N, Damschroder-Williams P, Thiel B, Ginns EI, Gershenfeld HK.

Am J Med Genet. 2001 Apr 8;105(3):291-4.

PMID:
11353452
20.

Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21.

Yan WL, Guan XY, Green ED, Nicolson R, Yap TK, Zhang J, Jacobsen LK, Krasnewich DM, Kumra S, Lenane MC, Gochman P, Damschroder-Williams PJ, Esterling LE, Long RT, Martin BM, Sidransky E, Rapoport JL, Ginns EI.

Am J Med Genet. 2000 Dec 4;96(6):749-53.

PMID:
11121174
21.

Human glucocerebrosidase: heterologous expression of active site mutants in murine null cells.

Fabrega S, Durand P, Codogno P, Bauvy C, Delomenie C, Henrissat B, Martin BM, McKinney C, Ginns EI, Mornon JP, Lehn P.

Glycobiology. 2000 Nov;10(11):1217-24.

PMID:
11087714
22.

Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease.

Stone DL, Tayebi N, Coble C, Ginns EI, Sidransky E.

J Med Genet. 2000 Nov;37(11):E40. Review. No abstract available.

23.

Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation.

Orvisky E, Sidransky E, McKinney CE, Lamarca ME, Samimi R, Krasnewich D, Martin BM, Ginns EI.

Pediatr Res. 2000 Aug;48(2):233-7.

PMID:
10926300
24.

Life-threatening splenic hemorrhage in two patients with Gaucher disease.

Stone DL, Ginns EI, Krasnewich D, Sidransky E.

Am J Hematol. 2000 Jun;64(2):140-2.

25.

The structure and expression of the human neuroligin-3 gene.

Philibert RA, Winfield SL, Sandhu HK, Martin BM, Ginns EI.

Gene. 2000 Apr 4;246(1-2):303-10.

PMID:
10767552
26.

Transgenic expression of green fluorescent protein in mouse oxytocin neurones.

Young WS 3rd, Iacangelo A, Luo XZ, King C, Duncan K, Ginns EI.

J Neuroendocrinol. 1999 Dec;11(12):935-9.

PMID:
10583728
27.

The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA).

Philibert RA, Winfield SL, Damschroder-Williams P, Tengstrom C, Martin BM, Ginns EI.

Hum Genet. 1999 Jul-Aug;105(1-2):174-8.

PMID:
10480376
28.

Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.

Lau EK, Tayebi N, Ingraham LJ, Winfield SL, Koprivica V, Stone DL, Zimran A, Ginns EI, Sidransky E.

Hum Genet. 1999 Apr;104(4):293-300.

PMID:
10369158
29.

Apolipoprotein E alleles in childhood-onset schizophrenia.

Fernandez T, Yan WL, Hamburger S, Rapoport JL, Saunders AM, Schapiro M, Ginns EI, Sidransky E.

Am J Med Genet. 1999 Apr 16;88(2):211-3. No abstract available.

PMID:
10206244
30.

Targeted reduction of oxytocin expression provides insights into its physiological roles.

Young WS 3rd, Shepard E, DeVries AC, Zimmer A, LaMarca ME, Ginns EI, Amico J, Nelson RJ, Hennighausen L, Wagner KU.

Adv Exp Med Biol. 1998;449:231-40.

PMID:
10026810
31.

Monitoring the CNS pathology in aspartylglucosaminuria mice.

Tenhunen K, Uusitalo A, Autti T, Joensuu R, Kettunen M, Kauppinen RA, Ikonen S, LaMarca ME, Haltia M, Ginns EI, Jalanko A, Peltonen L.

J Neuropathol Exp Neurol. 1998 Dec;57(12):1154-63.

PMID:
9862638
32.

A genome-wide search for chromosomal loci linked to mental health wellness in relatives at high risk for bipolar affective disorder among the Old Order Amish.

Ginns EI, St Jean P, Philibert RA, Galdzicka M, Damschroder-Williams P, Thiel B, Long RT, Ingraham LJ, Dalwaldi H, Murray MA, Ehlert M, Paul S, Remortel BG, Patel AP, Anderson MC, Shaio C, Lau E, Dymarskaia I, Martin BM, Stubblefield B, Falls KM, Carulli JP, Keith TP, Fann CS, Lacy LG, Allen CR, Hostetter AM, Elston RC, Schork NJ, Egeland JA, Paul SM.

Proc Natl Acad Sci U S A. 1998 Dec 22;95(26):15531-6.

33.

The characterization and sequence analysis of thirty CTG-repeat containing genomic cosmid clones.

Philibert RA, Horelli-Kuitunen N, Robb AS, Lee YH, Long RT, Damschroder-Williams P, Martin BM, Brennan MB, Palotie A, Ginns EI.

Eur J Hum Genet. 1998 Jan;6(1):89-94.

34.

Lack of an association between a dopamine-4 receptor polymorphism and attention-deficit/hyperactivity disorder: genetic and brain morphometric analyses.

Castellanos FX, Lau E, Tayebi N, Lee P, Long RE, Giedd JN, Sharp W, Marsh WL, Walter JM, Hamburger SD, Ginns EI, Rapoport JL, Sidransky E.

Mol Psychiatry. 1998 Sep;3(5):431-4.

35.

Large CAG/CTG repeats are associated with childhood-onset schizophrenia.

Burgess CE, Lindblad K, Sidransky E, Yuan QP, Long RT, Breschel T, Ross CA, McInnis M, Lee P, Ginns EI, Lenane M, Kumra S, Jacobsen L, Rapoport JL, Schalling M.

Mol Psychiatry. 1998 Jul;3(4):321-7.

36.

Association of an X-chromosome dodecamer insertional variant allele with mental retardation.

Philibert RA, King BH, Winfield S, Cook EH, Lee YH, Stubblefield B, Damschroder-Williams P, Dea C, Palotie A, Tengstrom C, Martin BM, Ginns EI.

Mol Psychiatry. 1998 Jul;3(4):303-9. Erratum in: Mol Psychiatry 1999 Mar;4(2):197.

37.

Oxytocin and milk removal are required for post-partum mammary-gland development.

Wagner KU, Young WS 3rd, Liu X, Ginns EI, Li M, Furth PA, Hennighausen L.

Genes Funct. 1997 Nov;1(4):233-44.

PMID:
9678900
38.

HLA antigens in childhood onset schizophrenia.

Jacobsen LK, Mittleman BB, Kumra S, Lenane MC, Barracchini KC, Adams S, Simonis T, Lee PR, Long RT, Sharp W, Sidransky E, Ginns EI, Rapoport JL.

Psychiatry Res. 1998 May 8;78(3):123-32.

PMID:
9657416
39.

A triplet repeat on 17q accounts for most expansions detected by the repeat-expansion-detection technique.

Sidransky E, Burgess C, Ikeuchi T, Lindblad K, Long RT, Philibert RA, Rapoport J, Schalling M, Tsuji S, Ginns EI.

Am J Hum Genet. 1998 Jun;62(6):1548-51. No abstract available.

40.

Splenectomy in Gaucher disease: new management dilemmas.

Krasnewich D, Dietrich K, Bauer L, Ginns EI, Sidransky E, Hill S.

Blood. 1998 Apr 15;91(8):3085-7. No abstract available.

PMID:
9531624
41.

Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired".

Yan W, Jacobsen LK, Krasnewich DM, Guan XY, Lenane MC, Paul SP, Dalwadi HN, Zhang H, Long RT, Kumra S, Martin BM, Scambler PJ, Trent JM, Sidransky E, Ginns EI, Rapoport JL.

Am J Med Genet. 1998 Feb 7;81(1):41-3.

PMID:
9514586
42.

Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients.

Jalanko A, Tenhunen K, McKinney CE, LaMarca ME, Rapola J, Autti T, Joensuu R, Manninen T, Sipilä I, Ikonen S, Riekkinen P Jr, Ginns EI, Peltonen L.

Hum Mol Genet. 1998 Feb;7(2):265-72.

PMID:
9425233
43.

Gaucher's disease: the best laid schemes of mice and men.

Sidransky E, Ginns EI.

Baillieres Clin Haematol. 1997 Dec;10(4):725-37. Review.

PMID:
9497860
44.

Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis.

Kyriakides TR, Zhu YH, Smith LT, Bain SD, Yang Z, Lin MT, Danielson KG, Iozzo RV, LaMarca M, McKinney CE, Ginns EI, Bornstein P.

J Cell Biol. 1998 Jan 26;140(2):419-30.

45.

Gaucher disease plus.

Sidransky E, Ginns EI.

J Med Genet. 1997 Oct;34(10):876-7. No abstract available.

46.
47.

The inheritance of bipolar affective disorder: abundant genes coming together.

Philibert RA, Egeland JA, Paul SM, Ginns EI.

J Affect Disord. 1997 Mar;43(1):1-3. No abstract available.

PMID:
9127824
48.

Deficiency in mouse oxytocin prevents milk ejection, but not fertility or parturition.

Young WS 3rd, Shepard E, Amico J, Hennighausen L, Wagner KU, LaMarca ME, McKinney C, Ginns EI.

J Neuroendocrinol. 1996 Nov;8(11):847-53.

PMID:
8933362
49.

Structure and organization of the human metaxin gene (MTX) and pseudogene.

Long GL, Winfield S, Adolph KW, Ginns EI, Bornstein P.

Genomics. 1996 Apr 15;33(2):177-84.

PMID:
8660965
50.

Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C.

Tayebi N, Herman J, Ginns EI, Sidransky E.

Biochem Mol Med. 1996 Apr;57(2):149-51.

PMID:
8733893

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