Lebo RV - Search Results

1

Symmetric replication of an unstable isodicentric Xq chromosome derived from isolocal maternal sister chromatid recombination.

Lebo RV, Milunsky J, Higgins AW, Loose B, Huang XL, Wyandt HE. Lebo RV, et al. Am J Med Genet. 1999 Aug 27;85(5):429-37. Am J Med Genet. 1999. PMID: 10405438

2

Tandem duplication/deletion in a maternally derived chromosome 9 supernumerary derivative resulting in 9p trisomy and partial 9q tetrasomy.

Wyandt HE, Lebo RV, Fenerci EY, Sadhu DN, Milunsky JM. Wyandt HE, et al. Among authors: lebo rv. Am J Med Genet. 2000 Aug 14;93(4):305-12. Am J Med Genet. 2000. PMID: 10946358

3

An unstable dicentric Robertsonian translocation in a markedly discordant twin.

Lebo RV, Wyandt HE, Warburton PE, Li S, Milunsky JM. Lebo RV, et al. Clin Genet. 2002 Nov;62(5):383-9. doi: 10.1034/j.1399-0004.2002.620505.x. Clin Genet. 2002. PMID: 12431253

4

Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region.

Lebo RV, Ikuta T, Milunsky JM, Milunsky A. Lebo RV, et al. Clin Genet. 2001 Jun;59(6):406-17. doi: 10.1034/j.1399-0004.2001.590605.x. Clin Genet. 2001. PMID: 11453972

5

Highly polymorphic short tandem repeat analyses clarify complex molecular test results.

Lebo RV, Maher T, Farrer L, Fenerci EY, Milunsky JM. Lebo RV, et al. Diagn Mol Pathol. 2001 Sep;10(3):179-89. doi: 10.1097/00019606-200109000-00006. Diagn Mol Pathol. 2001. PMID: 11552721

6

Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins.

Milunsky J, Maher T, Lebo R, Milunsky A. Milunsky J, et al. Fetal Diagn Ther. 1998 May-Jun;13(3):167-8. doi: 10.1159/000020831. Fetal Diagn Ther. 1998. PMID: 9708440

7

Modification of CMT1 Phenotypes by the Independent Coexisting Neurogenetic Disorders, McArdle Disease and Chromosome 5p Trisomy.

Thomas FP, Geller TJ, Hahn AF, Gutmann L, Huang XL, Wu H, Wyandt HE, Lebo RV. Thomas FP, et al. Among authors: lebo rv. Ann N Y Acad Sci. 1999 Oct;883(1):472-476. doi: 10.1111/j.1749-6632.1999.tb08614.x. Ann N Y Acad Sci. 1999. PMID: 29086973 No abstract available.

8

Mutation analysis in Rett syndrome.

Milunsky JM, Lebo RV, Ikuta T, Maher TA, Haverty CE, Milunsky A. Milunsky JM, et al. Among authors: lebo rv. Genet Test. 2001 Winter;5(4):321-5. doi: 10.1089/109065701753617462. Genet Test. 2001. PMID: 11960578

9

Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: avoiding pitfalls in the risk calculations.

Hodge SE, Lebo RV, Yesley AR, Cheney SM, Angle H, Milunsky J. Hodge SE, et al. Among authors: lebo rv. Am J Med Genet. 1999 Feb 12;82(4):329-35. doi: 10.1002/(sici)1096-8628(19990212)82:4<329::aid-ajmg10>3.0.co;2-d. Am J Med Genet. 1999. PMID: 10051167

10

Modification of CMT1 phenotypes by the independent coexisting neurogenetic disorders, McArdle disease and chromosome 5p trisomy.

Thomas FP, Geller TJ, Hahn AF, Gutmann L, Huang XL, Wu H, Wyandt HE, Lebo RV. Thomas FP, et al. Among authors: lebo rv. Ann N Y Acad Sci. 1999 Sep 14;883:472-6. Ann N Y Acad Sci. 1999. PMID: 10586277 No abstract available.

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