Korf BR - 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: korf br. 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. Among authors: korf br. 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. Among authors: korf br. 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. Among authors: korf br. 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. 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. Among authors: korf br. 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

Structural anomalies revealed by neuroimaging studies in the brains of patients with neurofibromatosis type 1 and large deletions.

Korf BR, Schneider G, Poussaint TY. Korf BR, et al. Genet Med. 1999 May-Jun;1(4):136-40. doi: 10.1097/00125817-199905000-00004. Genet Med. 1999. PMID: 11258348 Free article.

8

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: korf br. Am J Med Genet. 1995 Jul 17;57(4):610-4. doi: 10.1002/ajmg.1320570419. Am J Med Genet. 1995. PMID: 7573139

9

Abdominal migraine in children with neurofibromatosis type 1: a case series and review of gastrointestinal involvement in NF1.

Heuschkel R, Kim S, Korf B, Schneider G, Bousvaros A. Heuschkel R, et al. J Pediatr Gastroenterol Nutr. 2001 Aug;33(2):149-54. doi: 10.1097/00005176-200108000-00010. J Pediatr Gastroenterol Nutr. 2001. PMID: 11568515 Review.

10

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1.

Lin AE, Birch PH, Korf BR, Tenconi R, Niimura M, Poyhonen M, Armfield Uhas K, Sigorini M, Virdis R, Romano C, Bonioli E, Wolkenstein P, Pivnick EK, Lawrence M, Friedman JM. Lin AE, et al. Among authors: korf br. Am J Med Genet. 2000 Nov 13;95(2):108-17. doi: 10.1002/1096-8628(20001113)95:2<108::aid-ajmg4>3.0.co;2-0. Am J Med Genet. 2000. PMID: 11078559

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