Zhou L - Search Results

1

Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).

Zhou A, Rand CM, Hockney SM, Niewijk G, Reineke P, Speare V, Berry-Kravis EM, Zhou L, Jennings LJ, Yu M, Ceccherini I, Bachetti T, Pennock M, Yap KL, Weese-Mayer DE. Zhou A, et al. Among authors: zhou l. Genet Med. 2021 Sep;23(9):1656-1663. doi: 10.1038/s41436-021-01178-x. Epub 2021 May 6. Genet Med. 2021. PMID: 33958749 Free article.

2

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

3

Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology.

Todd ES, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Rand CM, Zhou L, Maher BS, Marazita ML, Weese-Mayer DE. Todd ES, et al. Among authors: zhou l. Pediatr Res. 2006 Jan;59(1):39-45. doi: 10.1203/01.pdr.0000191814.73340.1d. Epub 2005 Dec 2. Pediatr Res. 2006. PMID: 16327002

4

Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene.

Rand CM, Weese-Mayer DE, Zhou L, Maher BS, Cooper ME, Marazita ML, Berry-Kravis EM. Rand CM, et al. Among authors: zhou l. Am J Med Genet A. 2006 Aug 1;140(15):1687-91. doi: 10.1002/ajmg.a.31336. Am J Med Genet A. 2006. PMID: 16830328 No abstract available.

5

Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.

Todd ES, Scott NM, Weese-Mayer DE, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Hauptman SA, Zhou L, Marazita ML. Todd ES, et al. Among authors: zhou l. Pediatrics. 2006 Aug;118(2):e408-14. doi: 10.1542/peds.2005-3134. Pediatrics. 2006. PMID: 16882781

6

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

7

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

8

Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).

Rand CM, Yu M, Jennings LJ, Panesar K, Berry-Kravis EM, Zhou L, Weese-Mayer DE. Rand CM, et al. Among authors: zhou l. Am J Med Genet A. 2012 Sep;158A(9):2297-301. doi: 10.1002/ajmg.a.35499. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821709

9

Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.

Sivan Y, Zhou A, Jennings LJ, Berry-Kravis EM, Yu M, Zhou L, Rand CM, Weese-Mayer DE. Sivan Y, et al. Among authors: zhou a, zhou l. Am J Med Genet A. 2019 Mar;179(3):503-506. doi: 10.1002/ajmg.a.61047. Epub 2019 Jan 23. Am J Med Genet A. 2019. PMID: 30672101

10

Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis.

Weese-Mayer DE, Zhou L, Berry-Kravis EM, Maher BS, Silvestri JM, Marazita ML. Weese-Mayer DE, et al. Among authors: zhou l. Am J Med Genet A. 2003 Oct 15;122A(3):238-45. doi: 10.1002/ajmg.a.20427. Am J Med Genet A. 2003. PMID: 12966525

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

33,556 results

Search Page

Filters