Berry-Kravis E - Search Results

1

Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.

Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT 3rd, Toji L. Kalman L, et al. J Mol Diagn. 2013 Jul;15(4):518-25. doi: 10.1016/j.jmoldx.2013.03.008. Epub 2013 May 13. J Mol Diagn. 2013. PMID: 23680132 Free PMC article.

2

Development of genomic reference materials for Huntington disease genetic testing.

Kalman L, Johnson MA, Beck J, Berry-Kravis E, Buller A, Casey B, Feldman GL, Handsfield J, Jakupciak JP, Maragh S, Matteson K, Muralidharan K, Richie KL, Rohlfs EM, Schaefer F, Sellers T, Spector E, Richards CS. Kalman L, et al. Genet Med. 2007 Oct;9(10):719-23. doi: 10.1097/gim.0b013e318156e8c1. Genet Med. 2007. PMID: 18073586 Free article.

3

Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders.

Berry-Kravis E, Zhou L, Jackson J, Tassone F. Berry-Kravis E, et al. Expert Rev Mol Diagn. 2021 Mar;21(3):255-267. doi: 10.1080/14737159.2021.1899812. Epub 2021 Mar 29. Expert Rev Mol Diagn. 2021. PMID: 33666525

4

Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death.

Hall DA, Nag S, Ouyang B, Bennett DA, Liu Y, Ali A, Zhou L, Berry-Kravis E. Hall DA, et al. Mov Disord. 2020 Aug;35(8):1448-1456. doi: 10.1002/mds.28086. Epub 2020 May 28. Mov Disord. 2020. PMID: 32463542 Free PMC article.

5

Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of the cholecystokinin system.

Goldman JG, Goetz CG, Berry-Kravis E, Leurgans S, Zhou L. Goldman JG, et al. Arch Neurol. 2004 Aug;61(8):1280-4. doi: 10.1001/archneur.61.8.1280. Arch Neurol. 2004. PMID: 15313848

6

X-inactivation in the clinical phenotype of fragile X premutation carrier sisters.

Hall DA, Robertson-Dick EE, O'Keefe JA, Hadd AG, Zhou L, Berry-Kravis E. Hall DA, et al. Neurol Genet. 2016 Feb 3;2(1):e45. doi: 10.1212/NXG.0000000000000045. eCollection 2016 Feb. Neurol Genet. 2016. PMID: 27066582 Free PMC article.

7

A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings.

Hadd AG, Filipovic-Sadic S, Zhou L, Williams A, Latham GJ, Berry-Kravis E, Hall DA. Hadd AG, et al. Clin Epigenetics. 2016 Dec 1;8:130. doi: 10.1186/s13148-016-0280-8. eCollection 2016. Clin Epigenetics. 2016. PMID: 27980694 Free PMC article.

8

A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.

Budimirovic DB, Schlageter A, Filipovic-Sadic S, Protic DD, Bram E, Mahone EM, Nicholson K, Culp K, Javanmardi K, Kemppainen J, Hadd A, Sharp K, Adayev T, LaFauci G, Dobkin C, Zhou L, Brown WT, Berry-Kravis E, Kaufmann WE, Latham GJ. Budimirovic DB, et al. Brain Sci. 2020 Sep 30;10(10):694. doi: 10.3390/brainsci10100694. Brain Sci. 2020. PMID: 33008014 Free PMC article.

9

Neurological and endocrine phenotypes of fragile X carrier women.

Hall D, Todorova-Koteva K, Pandya S, Bernard B, Ouyang B, Walsh M, Pounardjian T, Deburghraeve C, Zhou L, Losh M, Leehey M, Berry-Kravis E. Hall D, et al. Clin Genet. 2016 Jan;89(1):60-7. doi: 10.1111/cge.12646. Epub 2015 Sep 4. Clin Genet. 2016. PMID: 26212380 Free PMC article.

10

Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation.

Berry-Kravis E, Potanos K, Weinberg D, Zhou L, Goetz CG. Berry-Kravis E, et al. Ann Neurol. 2005 Jan;57(1):144-7. doi: 10.1002/ana.20360. Ann Neurol. 2005. PMID: 15622531

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

366 results

Search Page

Filters