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Items: 24


Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu.

Rodriguez-Paris J, Waldhaus J, Gordhandas JA, Pique L, Schrijver I.

PeerJ. 2016 Oct 11;4:e2494. doi: 10.7717/peerj.2494. eCollection 2016.


Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.

Haraksingh RR, Jahanbani F, Rodriguez-Paris J, Gelernter J, Nadeau KC, Oghalai JS, Schrijver I, Snyder MP.

BMC Genomics. 2014 Dec 20;15:1155. doi: 10.1186/1471-2164-15-1155.


SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.

Rendtorff ND, Schrijver I, Lodahl M, Rodriguez-Paris J, Johnsen T, Hansén EC, Nickelsen LA, Tümer Z, Fagerheim T, Wetke R, Tranebjaerg L.

Clin Genet. 2013 Oct;84(4):388-91. doi: 10.1111/cge.12074. Epub 2013 Jan 22. No abstract available.


Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854).

Rodriguez-Paris J, Tamayo ML, Gelvez N, Schrijver I.

PLoS One. 2011;6(6):e21665. doi: 10.1371/journal.pone.0021665. Epub 2011 Jun 29.


Evaluation of a gene expression microarray-based assay to determine tissue type of origin on a diverse set of 49 malignancies.

Beck AH, Rodriguez-Paris J, Zehnder J, Schrijver I.

Am J Surg Pathol. 2011 Jul;35(7):1030-7. doi: 10.1097/PAS.0b013e3182178b59.


Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.

Rodriguez-Paris J, Pique L, Colen T, Roberson J, Gardner P, Schrijver I.

PLoS One. 2010 Jul 26;5(7):e11804. doi: 10.1371/journal.pone.0011804.


The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis.

Rodriguez-Paris J, Schrijver I.

Biochem Biophys Res Commun. 2009 Nov 13;389(2):354-9. doi: 10.1016/j.bbrc.2009.08.152. Epub 2009 Aug 31.


Genetic analysis of presbycusis by arrayed primer extension.

Rodriguez-Paris J, Ballay C, Inserra M, Stidham K, Colen T, Roberson J, Gardner P, Schrijver I.

Ann Clin Lab Sci. 2008 Autumn;38(4):352-60.


Interlaboratory performance of a microarray-based gene expression test to determine tissue of origin in poorly differentiated and undifferentiated cancers.

Dumur CI, Lyons-Weiler M, Sciulli C, Garrett CT, Schrijver I, Holley TK, Rodriguez-Paris J, Pollack JR, Zehnder JL, Price M, Hagenkord JM, Rigl CT, Buturovic LJ, Anderson GG, Monzon FA.

J Mol Diagn. 2008 Jan;10(1):67-77. Epub 2007 Dec 13.


The transcytosis of divalent metal transporter 1 and apo-transferrin during iron uptake in intestinal epithelium.

Ma Y, Specian RD, Yeh KY, Yeh M, Rodriguez-Paris J, Glass J.

Am J Physiol Gastrointest Liver Physiol. 2002 Oct;283(4):G965-74.


p110-related PI 3-kinases regulate phagosome-phagosome fusion and phagosomal pH through a PKB/Akt dependent pathway in Dictyostelium.

Rupper AC, Rodriguez-Paris JM, Grove BD, Cardelli JA.

J Cell Sci. 2001 Apr;114(Pt 7):1283-95.


Dietary iron induces rapid changes in rat intestinal divalent metal transporter expression.

Yeh KY, Yeh M, Watkins JA, Rodriguez-Paris J, Glass J.

Am J Physiol Gastrointest Liver Physiol. 2000 Nov;279(5):G1070-9.


Dictyostelium lysosomal proteins with different sugar modifications sort to functionally distinct compartments.

Souza GM, Mehta DP, Lammertz M, Rodriguez-Paris J, Wu R, Cardelli JA, Freeze HH.

J Cell Sci. 1997 Sep;110 ( Pt 18):2239-48.


Phagosomal proteins of Dictyostelium discoideum.

Rezabek BL, Rodriguez-Paris JM, Cardelli JA, Chia CP.

J Eukaryot Microbiol. 1997 Jul-Aug;44(4):284-92.


Late events in the intracellular sorting of major histocompatibility complex class II molecules are regulated by the 80-82 segment of the class II beta chain.

Tan LJ, Ceman S, Chervonsky A, Rodriguez-Paris J, Steck TL, Sant AJ.

Eur J Immunol. 1997 Jun;27(6):1479-88.


A role for a Rab4-like GTPase in endocytosis and in regulation of contractile vacuole structure and function in Dictyostelium discoideum.

Bush J, Temesvari L, Rodriguez-Paris J, Buczynski G, Cardelli J.

Mol Biol Cell. 1996 Oct;7(10):1623-38.


Analysis of successive endocytic compartments isolated from Dictyostelium discoideum by magnetic fractionation.

Nolta KV, Rodriguez-Paris JM, Steck TL.

Biochim Biophys Acta. 1994 Nov 10;1224(2):237-46.


A Rab4-like GTPase in Dictyostelium discoideum colocalizes with V-H(+)-ATPases in reticular membranes of the contractile vacuole complex and in lysosomes.

Bush J, Nolta K, Rodriguez-Paris J, Kaufmann N, O'Halloran T, Ruscetti T, Temesvari L, Steck T, Cardelli J.

J Cell Sci. 1994 Oct;107 ( Pt 10):2801-12.


Characterization of lysosomes isolated from Dictyostelium discoideum by magnetic fractionation.

Rodriguez-Paris JM, Nolta KV, Steck TL.

J Biol Chem. 1993 Apr 25;268(12):9110-6.


Fluorimetric studies of protein kinase C interactions with phospholipids.

Rodriguez-Paris JM, Shoji M, Yeola S, Liotta D, Vogler WR, Kuo JF.

Biochem Biophys Res Commun. 1989 Mar 15;159(2):495-500.


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