Wu BL - Search Results

1

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

Riva P, Corrado L, Natacci F, Castorina P, Wu BL, Schneider GH, Clementi M, Tenconi R, Korf BR, Larizza L. Riva P, et al. Among authors: wu bl. Am J Hum Genet. 2000 Jan;66(1):100-9. doi: 10.1086/302709. Am J Hum Genet. 2000. PMID: 10631140 Free PMC article.

2

Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.

Wu BL, Austin MA, Schneider GH, Boles RG, Korf BR. Wu BL, et al. Am J Med Genet. 1995 Dec 4;59(4):528-35. doi: 10.1002/ajmg.1320590427. Am J Med Genet. 1995. PMID: 8585580

3

Somatic mosaicism for deletion of the entire NF1 gene identified by FISH.

Wu BL, Boles RG, Yaari H, Weremowicz S, Schneider GH, Korf BR. Wu BL, et al. Hum Genet. 1997 Feb;99(2):209-13. doi: 10.1007/s004390050341. Hum Genet. 1997. PMID: 9048923

4

Deletion of the entire NF1 gene causing distinct manifestations in a family.

Wu BL, Schneider GH, Korf BR. Wu BL, et al. Am J Med Genet. 1997 Mar 3;69(1):98-101. Am J Med Genet. 1997. PMID: 9066892

5

Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.

White LM, Rogan PK, Nicholls RD, Wu BL, Korf B, Knoll JH. White LM, et al. Among authors: wu bl. Am J Hum Genet. 1996 Aug;59(2):423-30. Am J Hum Genet. 1996. PMID: 8755930 Free PMC article.

6

Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation.

Wu BL, Schneider GH, Sabatino DE, Bozovic LZ, Cao B, Korf BR. Wu BL, et al. Am J Med Genet. 1996 Mar 1;62(1):77-83. doi: 10.1002/(SICI)1096-8628(19960301)62:1<77::AID-AJMG16>3.0.CO;2-S. Am J Med Genet. 1996. PMID: 8779331

7

CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3).

North KN, Wu BL, Cao BN, Whiteman DA, Korf BR. North KN, et al. Among authors: wu bl. Am J Med Genet. 1995 Jul 17;57(4):610-4. doi: 10.1002/ajmg.1320570419. Am J Med Genet. 1995. PMID: 7573139

8

Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.

Keegan CE, Mulliken JB, Wu BL, Korf BR. Keegan CE, et al. Among authors: wu bl. Genet Med. 2001 Jul-Aug;3(4):310-3. doi: 10.1097/00125817-200107000-00007. Genet Med. 2001. PMID: 11478532 Free article. Review.

9

Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q.

Tonk V, Wyandt HE, Osella P, Skare J, Wu BL, Haddad B, Milunsky A. Tonk V, et al. Among authors: wu bl. Clin Genet. 1995 Sep;48(3):151-5. doi: 10.1111/j.1399-0004.1995.tb04076.x. Clin Genet. 1995. PMID: 8556823 Review.

10

Connexin 26 studies in patients with sensorineural hearing loss.

Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Kenna MA, et al. Among authors: wu bl. Arch Otolaryngol Head Neck Surg. 2001 Sep;127(9):1037-42. doi: 10.1001/archotol.127.9.1037. Arch Otolaryngol Head Neck Surg. 2001. PMID: 11556849

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