Zhou L - 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. Among authors: zhou l. 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

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. Among authors: zhou l. 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

3

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. Among authors: zhou l. 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.

4

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.

Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Berry-Kravis EM, et al. Among authors: zhou l. Am J Respir Crit Care Med. 2006 Nov 15;174(10):1139-44. doi: 10.1164/rccm.200602-305OC. Epub 2006 Aug 3. Am J Respir Crit Care Med. 2006. PMID: 16888290

5

Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.

Jennings LJ, Yu M, Zhou L, Rand CM, Berry-Kravis EM, Weese-Mayer DE. Jennings LJ, et al. Among authors: zhou l. Diagn Mol Pathol. 2010 Dec;19(4):224-31. doi: 10.1097/PDM.0b013e3181eb92ff. Diagn Mol Pathol. 2010. PMID: 21051998

6

Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.

Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML. Weese-Mayer DE, et al. Among authors: zhou l. Am J Med Genet A. 2003 Dec 15;123A(3):267-78. doi: 10.1002/ajmg.a.20527. Am J Med Genet A. 2003. PMID: 14608649

7

Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.

Weese-Mayer DE, Berry-Kravis EM, Zhou L. Weese-Mayer DE, et al. Among authors: zhou l. Am J Respir Crit Care Med. 2005 Jan 1;171(1):88. doi: 10.1164/ajrccm.171.1.950. Am J Respir Crit Care Med. 2005. PMID: 15615891 No abstract available.

8

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. Among authors: zhou l. Neurol Genet. 2016 Feb 3;2(1):e45. doi: 10.1212/NXG.0000000000000045. eCollection 2016 Feb. Neurol Genet. 2016. PMID: 27066582 Free PMC article.

9

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. Among authors: zhou l. Clin Epigenetics. 2016 Dec 1;8:130. doi: 10.1186/s13148-016-0280-8. eCollection 2016. Clin Epigenetics. 2016. PMID: 27980694 Free PMC article.

10

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. Among authors: zhou l. Arch Neurol. 2004 Aug;61(8):1280-4. doi: 10.1001/archneur.61.8.1280. Arch Neurol. 2004. PMID: 15313848

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