Wu YQ - Search Results

1

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG. Wu YQ, et al. Am J Med Genet. 1998 Jun 16;78(1):82-9. doi: 10.1002/(sici)1096-8628(19980616)78:1<82::aid-ajmg17>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9637430

2

Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.

Wu YQ, Bejjani BA, Tsui LC, Mandel A, Osborne LR, Shaffer LG. Wu YQ, et al. Am J Med Genet. 2002 Apr 22;109(2):121-4. doi: 10.1002/ajmg.10321. Am J Med Genet. 2002. PMID: 11977160 Free PMC article.

3

A case of Williams syndrome with a large, visible cytogenetic deletion.

Wu YQ, Nickerson E, Shaffer LG, Keppler-Noreuil K, Muilenburg A. Wu YQ, et al. J Med Genet. 1999 Dec;36(12):928-32. J Med Genet. 1999. PMID: 10636739 Free PMC article. No abstract available.

4

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG. Wu YQ, et al. Am J Hum Genet. 2000 Nov;67(5):1327-32. doi: 10.1016/S0002-9297(07)62963-2. Epub 2000 Oct 3. Am J Hum Genet. 2000. PMID: 11017806 Free PMC article.

5

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.

Wu YQ, Heilstedt HA, Bedell JA, May KM, Starkey DE, McPherson JD, Shapira SK, Shaffer LG. Wu YQ, et al. Hum Mol Genet. 1999 Feb;8(2):313-21. doi: 10.1093/hmg/8.2.313. Hum Mol Genet. 1999. PMID: 9931339

6

Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.

Hall CR, Wu Y, Shaffer LG, Hecht JT. Hall CR, et al. Clin Genet. 2001 Nov;60(5):356-9. doi: 10.1034/j.1399-0004.2001.600506.x. Clin Genet. 2001. PMID: 11903336

7

Identification of a human brain-specific gene, calneuron 1, a new member of the calmodulin superfamily.

Wu YQ, Lin X, Liu CM, Jamrich M, Shaffer LG. Wu YQ, et al. Mol Genet Metab. 2001 Apr;72(4):343-50. doi: 10.1006/mgme.2001.3160. Mol Genet Metab. 2001. PMID: 11286509

8

Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.

Heilstedt HA, Burgess DL, Anderson AE, Chedrawi A, Tharp B, Lee O, Kashork CD, Starkey DE, Wu YQ, Noebels JL, Shaffer LG, Shapira SK. Heilstedt HA, et al. Among authors: wu yq. Epilepsia. 2001 Sep;42(9):1103-11. doi: 10.1046/j.1528-1157.2001.08801.x. Epilepsia. 2001. PMID: 11580756 Free article.

9

A case of segmental paternal isodisomy of chromosome 14.

Coveler KJ, Yang SP, Sutton R, Milstein JM, Wu YQ, Bois KD, Beischel LS, Johnson JP, Shaffer LG. Coveler KJ, et al. Among authors: wu yq. Hum Genet. 2002 Mar;110(3):251-6. doi: 10.1007/s00439-002-0688-4. Epub 2002 Feb 26. Hum Genet. 2002. PMID: 11935337 Review.

10

Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.

Hanchard NA, Murdock DR, Magoulas PL, Bainbridge M, Muzny D, Wu Y, Wang M, Lupski JR, Gibbs RA, Brown CW. Hanchard NA, et al. Clin Genet. 2013 May;83(5):457-461. doi: 10.1111/j.1399-0004.2012.01951.x. Epub 2012 Sep 11. Clin Genet. 2013. PMID: 22901280 Free PMC article.

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