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Results: 1 to 20 of 160

1.

Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

Londin ER, Adijanto J, Philp N, Novelli A, Vitale E, Perria C, Serra G, Alesi V, Surrey S, Fortina P.

Am J Med Genet A. 2014 Jun 4. doi: 10.1002/ajmg.a.36629. [Epub ahead of print]

PMID:
24898194
[PubMed - as supplied by publisher]
2.

Mechanisms of Endothelial Cell Attachment, Proliferation, and Differentiation on 4 Types of Platinum-Based Endovascular Coils.

Pandey AS, San Antonio JD, Addya S, Surrey S, Fortina P, Van Bockstaele EJ, Veznedaroglu E.

World Neurosurg. 2013 Aug 30. pii: S1878-8750(13)01050-4. doi: 10.1016/j.wneu.2013.08.029. [Epub ahead of print] Review.

PMID:
23994074
[PubMed - as supplied by publisher]
3.

Identification of a developmental gene expression signature, including HOX genes, for the normal human colonic crypt stem cell niche: overexpression of the signature parallels stem cell overpopulation during colon tumorigenesis.

Bhatlekar S, Addya S, Salunek M, Orr CR, Surrey S, McKenzie S, Fields JZ, Boman BM.

Stem Cells Dev. 2014 Jan 15;23(2):167-79. doi: 10.1089/scd.2013.0039. Epub 2013 Nov 5.

PMID:
23980595
[PubMed - in process]
4.

Use of linkage analysis, genome-wide association studies, and next-generation sequencing in the identification of disease-causing mutations.

Londin E, Yadav P, Surrey S, Kricka LJ, Fortina P.

Methods Mol Biol. 2013;1015:127-46. doi: 10.1007/978-1-62703-435-7_8.

PMID:
23824853
[PubMed - indexed for MEDLINE]
5.

Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor.

Londin ER, Keller MA, D'Andrea MR, Delgrosso K, Ertel A, Surrey S, Fortina P.

BMC Genomics. 2011 Sep 26;12:464. doi: 10.1186/1471-2164-12-464.

PMID:
21943378
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

Bernardini L, Alesi V, Loddo S, Novelli A, Bottillo I, Battaglia A, Digilio MC, Zampino G, Ertel A, Fortina P, Surrey S, Dallapiccola B.

Eur J Hum Genet. 2010 Feb;18(2):178-85. doi: 10.1038/ejhg.2009.154. Epub 2009 Oct 7.

PMID:
19809473
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Relationship between beta4 hydrogen bond and beta6 hydrophobic interactions during aggregate, fiber or crystal formation in oversaturated solutions of hemoglobin A and S.

Adachi K, Ding M, Asakura T, Surrey S.

Arch Biochem Biophys. 2009 Jan 15;481(2):137-44. doi: 10.1016/j.abb.2008.11.006. Epub 2008 Nov 13.

PMID:
19022217
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Genotyping beta-globin gene mutations on copolymer-coated glass slides with the ligation detection reaction.

Battistella S, Damin F, Chiari M, Delgrosso K, Surrey S, Fortina P, Ferrari M, Cremonesi L.

Clin Chem. 2008 Oct;54(10):1657-63. doi: 10.1373/clinchem.2008.107870. Epub 2008 Aug 14.

PMID:
18703765
[PubMed - indexed for MEDLINE]
Free Article
9.

Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization.

Chetta M, Drmanac A, Santacroce R, Grandone E, Surrey S, Fortina P, Margaglione M.

Indian J Hum Genet. 2008 May;14(2):55-64. doi: 10.4103/0971-6866.44106.

PMID:
20300295
[PubMed]
Free PMC Article
10.

Role of the beta4Thr-beta73Asp hydrogen bond in HbS polymer and domain formation from multinucleate-containing clusters.

Adachi K, Ding M, Surrey S.

Biochemistry. 2008 May 13;47(19):5441-9. doi: 10.1021/bi800149u. Epub 2008 Apr 18.

PMID:
18419131
[PubMed - indexed for MEDLINE]
11.

Digital mRNA profiling.

Fortina P, Surrey S.

Nat Biotechnol. 2008 Mar;26(3):293-4. doi: 10.1038/nbt0308-293. No abstract available.

PMID:
18327237
[PubMed - indexed for MEDLINE]
12.

Heterozygous disruption of Flk-1 receptor leads to myocardial ischaemia reperfusion injury in mice: application of affymetrix gene chip analysis.

Thirunavukkarasu M, Addya S, Juhasz B, Pant R, Zhan L, Surrey S, Maulik G, Menon VP, Maulik N.

J Cell Mol Med. 2008 Aug;12(4):1284-302. doi: 10.1111/j.1582-4934.2008.00269.x. Epub 2008 Feb 8.

PMID:
18266966
[PubMed - indexed for MEDLINE]
13.

Assembly of recently translated full-length and C-terminal truncated human gamma-globin chains with a pool of alpha-globin chains to form Hb F in a cell-free system.

Adachi K, Zhao Y, Lakka V, Weiss MJ, Surrey S.

Arch Biochem Biophys. 2007 Jul 1;463(1):60-7. Epub 2007 Mar 16.

PMID:
17418086
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Applications of nanoparticles to diagnostics and therapeutics in colorectal cancer.

Fortina P, Kricka LJ, Graves DJ, Park J, Hyslop T, Tam F, Halas N, Surrey S, Waldman SA.

Trends Biotechnol. 2007 Apr;25(4):145-52. Epub 2007 Feb 21. Review.

PMID:
17316852
[PubMed - indexed for MEDLINE]
15.

Opportunities for near-infrared thermal ablation of colorectal metastases by guanylyl cyclase C-targeted gold nanoshells.

Waldman SA, Fortina P, Surrey S, Hyslop T, Kricka LJ, Graves DJ.

Future Oncol. 2006 Dec;2(6):705-16. Review.

PMID:
17155897
[PubMed - indexed for MEDLINE]
16.

Transcriptional regulatory network analysis of developing human erythroid progenitors reveals patterns of coregulation and potential transcriptional regulators.

Keller MA, Addya S, Vadigepalli R, Banini B, Delgrosso K, Huang H, Surrey S.

Physiol Genomics. 2006 Dec 13;28(1):114-28. Epub 2006 Aug 29.

PMID:
16940433
[PubMed - indexed for MEDLINE]
Free Article
17.

The Hb A variant (beta73 Asp-->Leu) disrupts Hb S polymerization by a novel mechanism.

Adachi K, Ding M, Surrey S, Rotter M, Aprelev A, Zakharov M, Weng W, Ferrone FA.

J Mol Biol. 2006 Sep 22;362(3):528-38. Epub 2006 Jul 28.

PMID:
16926024
[PubMed - indexed for MEDLINE]
18.

Inhibition of hemoglobin S polymerization in vitro by a novel 15-mer EF-helix beta73 histidine-containing peptide.

Akbar MG, Tamura Y, Ding M, Ding H, Rosenblatt MM, Reddy KS, Surrey S, Adachi K.

Biochemistry. 2006 Jul 11;45(27):8358-67.

PMID:
16819835
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Combinatorial sequencing-by-hybridization: analysis of the NF1 gene.

Schirinzi A, Drmanac S, Dallapiccola B, Huang S, Scott K, De Luca A, Swanson D, Drmanac R, Surrey S, Fortina P.

Genet Test. 2006 Spring;10(1):8-17.

PMID:
16544997
[PubMed - indexed for MEDLINE]
20.

Region-specific detection of neuroblastoma loss of heterozygosity at multiple loci simultaneously using a SNP-based tag-array platform.

Maris JM, Hii G, Gelfand CA, Varde S, White PS, Rappaport E, Surrey S, Fortina P.

Genome Res. 2005 Aug;15(8):1168-76.

PMID:
16077016
[PubMed - indexed for MEDLINE]
Free PMC Article

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