Urraca N - Search Results

1

A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications.

Urraca N, Davis L, Cook EH Jr, Schanen NC, Reiter LT. Urraca N, et al. Genet Test Mol Biomarkers. 2010 Aug;14(4):571-6. doi: 10.1089/gtmb.2010.0030. Genet Test Mol Biomarkers. 2010. PMID: 20642357 Free PMC article.

2

Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons.

Urraca N, Hope K, Victor AK, Belgard TG, Memon R, Goorha S, Valdez C, Tran QT, Sanchez S, Ramirez J, Donaldson M, Bridges D, Reiter LT. Urraca N, et al. Mol Autism. 2018 Jan 27;9:6. doi: 10.1186/s13229-018-0191-y. eCollection 2018. Mol Autism. 2018. PMID: 29423132 Free PMC article.

3

Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses.

Ajayi OJ, Smith EJ, Viangteeravat T, Huang EY, Nagisetty NSVR, Urraca N, Lusk L, Finucane B, Arkilo D, Young J, Jeste S, Thibert R; Dup15q Alliance, Reiter LT. Ajayi OJ, et al. Among authors: urraca n. JMIR Res Protoc. 2017 Oct 18;6(10):e194. doi: 10.2196/resprot.7989. JMIR Res Protoc. 2017. PMID: 29046268 Free PMC article.

4

Dental Pulp Stem Cells Model Early Life and Imprinted DNA Methylation Patterns.

Dunaway K, Goorha S, Matelski L, Urraca N, Lein PJ, Korf I, Reiter LT, LaSalle JM. Dunaway K, et al. Among authors: urraca n. Stem Cells. 2017 Apr;35(4):981-988. doi: 10.1002/stem.2563. Epub 2017 Jan 19. Stem Cells. 2017. PMID: 28032673 Free PMC article.

5

A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.

Urraca N, Potter B, Hundley R, Pivnick EK, McVicar K, Thibert RL, Ledbetter C, Chamberlain R, Miravalle L, Sirois CL, Chamberlain S, Reiter LT. Urraca N, et al. Front Genet. 2016 Nov 25;7:205. doi: 10.3389/fgene.2016.00205. eCollection 2016. Front Genet. 2016. PMID: 27933089 Free PMC article.

6

The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.

Urraca N, Cleary J, Brewer V, Pivnick EK, McVicar K, Thibert RL, Schanen NC, Esmer C, Lamport D, Reiter LT. Urraca N, et al. Autism Res. 2013 Aug;6(4):268-79. doi: 10.1002/aur.1284. Epub 2013 Mar 14. Autism Res. 2013. PMID: 23495136 Free PMC article.

7

Attitudes and anticipated reactions to genetic testing for cancer among patients in Mexico City.

Romero-Hidalgo S, Urraca N, Parra D, Villa AR, Lisker R, Carnevale A. Romero-Hidalgo S, et al. Among authors: urraca n. Genet Test Mol Biomarkers. 2009 Aug;13(4):477-83. doi: 10.1089/gtmb.2009.0004. Genet Test Mol Biomarkers. 2009. PMID: 19594367

8

Identification of novel candidate disease genes from de novo exonic copy number variants.

Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P. Gambin T, et al. Among authors: urraca n. Genome Med. 2017 Sep 21;9(1):83. doi: 10.1186/s13073-017-0472-7. Genome Med. 2017. PMID: 28934986 Free PMC article.

9

Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples.

Scoles HA, Urraca N, Chadwick SW, Reiter LT, Lasalle JM. Scoles HA, et al. Among authors: urraca n. Mol Autism. 2011 Dec 12;2(1):19. doi: 10.1186/2040-2392-2-19. Mol Autism. 2011. PMID: 22152151 Free PMC article.

10

Assessment of the Tumorigenic Potential of Spontaneously Immortalized and hTERT-Immortalized Cultured Dental Pulp Stem Cells.

Wilson R, Urraca N, Skobowiat C, Hope KA, Miravalle L, Chamberlin R, Donaldson M, Seagroves TN, Reiter LT. Wilson R, et al. Among authors: urraca n. Stem Cells Transl Med. 2015 Aug;4(8):905-12. doi: 10.5966/sctm.2014-0196. Epub 2015 Jun 1. Stem Cells Transl Med. 2015. PMID: 26032749 Free PMC article.

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