Rothberg PG - Search Results

1

Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease.

Rothberg PG, Ramirez-Montealegre D, Frazier SD, Pearce DA. Rothberg PG, et al. J Mol Diagn. 2004 Aug;6(3):260-3. doi: 10.1016/S1525-1578(10)60519-3. J Mol Diagn. 2004. PMID: 15269304 Free PMC article.

2

Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation.

McClaskey JH, Leman AR, Rothberg PG. McClaskey JH, et al. Among authors: rothberg pg. Genet Test. 2005 Spring;9(1):1-5. doi: 10.1089/gte.2005.9.1. Genet Test. 2005. PMID: 15857179

3

Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.

Kwon JM, Rothberg PG, Leman AR, Weimer JM, Mink JW, Pearce DA. Kwon JM, et al. Among authors: rothberg pg. Neurosci Lett. 2005 Oct 21;387(2):111-4. doi: 10.1016/j.neulet.2005.07.023. Neurosci Lett. 2005. PMID: 16087292

4

Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis.

Adams H, de Blieck EA, Mink JW, Marshall FJ, Kwon J, Dure L, Rothberg PG, Ramirez-Montealegre D, Pearce DA. Adams H, et al. Among authors: rothberg pg. Dev Med Child Neurol. 2006 Apr;48(4):259-64. doi: 10.1017/S0012162206000570. Dev Med Child Neurol. 2006. PMID: 16542512 Free article.

5

Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2.

Leman AR, Polochock S, Mole SE, Pearce DA, Rothberg PG. Leman AR, et al. Among authors: rothberg pg. J Neurosci Methods. 2006 Oct 15;157(1):124-31. doi: 10.1016/j.jneumeth.2006.04.015. Epub 2006 May 23. J Neurosci Methods. 2006. PMID: 16720047

6

Another disorder finds its gene.

Ramirez-Montealegre D, Rothberg PG, Pearce DA. Ramirez-Montealegre D, et al. Among authors: rothberg pg. Brain. 2006 Jun;129(Pt 6):1353-6. doi: 10.1093/brain/awl132. Brain. 2006. PMID: 16738059 Review. No abstract available.

7

Rapid method for detection of mutations in the nucleophosmin gene in acute myeloid leukemia.

Laughlin TS, Becker MW, Liesveld JL, Mulford DA, Abboud CN, Brown P, Rothberg PG. Laughlin TS, et al. Among authors: rothberg pg. J Mol Diagn. 2008 Jul;10(4):338-45. doi: 10.2353/jmoldx.2008.070175. Epub 2008 Jun 13. J Mol Diagn. 2008. PMID: 18556765 Free PMC article.

8

Detection of exon 12 Mutations in the JAK2 gene: enhanced analytical sensitivity using clamped PCR and nucleotide sequencing.

Laughlin TS, Moliterno AR, Stein BL, Rothberg PG. Laughlin TS, et al. Among authors: rothberg pg. J Mol Diagn. 2010 May;12(3):278-82. doi: 10.2353/jmoldx.2010.090177. Epub 2010 Mar 4. J Mol Diagn. 2010. PMID: 20203004 Free PMC article.

9

Demonstration of array-based analysis for highly multiplexed PCR assays application to detection of IGH@-BCL2 translocations in FFPE follicular lymphoma specimens.

Spence JM, Rothberg PG, Wang N, Burack WR. Spence JM, et al. Among authors: rothberg pg. J Mol Diagn. 2011 May;13(3):252-62. doi: 10.1016/j.jmoldx.2010.11.019. J Mol Diagn. 2011. PMID: 21497287 Free PMC article.

10

Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data.

Cialone J, Augustine EF, Newhouse N, Adams H, Vierhile A, Marshall FJ, de Blieck EA, Kwon J, Rothberg PG, Mink JW. Cialone J, et al. Among authors: rothberg pg. J Inherit Metab Dis. 2011 Oct;34(5):1075-81. doi: 10.1007/s10545-011-9346-0. Epub 2011 May 10. J Inherit Metab Dis. 2011. PMID: 21556831 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

102 results

Search Page