Lupski JR - Search Results

1

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.

Ou Z, Jarmuz M, Sparagana SP, Michaud J, Décarie JC, Yatsenko SA, Nowakowska B, Furman P, Shaw CA, Shaffer LG, Lupski JR, Chinault AC, Cheung SW, Stankiewicz P. Ou Z, et al. Among authors: lupski jr. Hum Genet. 2006 Sep;120(2):227-37. doi: 10.1007/s00439-006-0200-7. Epub 2006 Jun 22. Hum Genet. 2006. PMID: 16791615

2

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.

Lupski JR, Wise CA, Kuwano A, Pentao L, Parke JT, Glaze DG, Ledbetter DH, Greenberg F, Patel PI. Lupski JR, et al. Nat Genet. 1992 Apr;1(1):29-33. doi: 10.1038/ng0492-29. Nat Genet. 1992. PMID: 1301995

3

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.

Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U. Patel PI, et al. Among authors: lupski jr. Nat Genet. 1992 Jun;1(3):159-65. doi: 10.1038/ng0692-159. Nat Genet. 1992. PMID: 1303228

4

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.

Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. Pentao L, et al. Among authors: lupski jr. Nat Genet. 1992 Dec;2(4):292-300. doi: 10.1038/ng1292-292. Nat Genet. 1992. PMID: 1303282

5

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR. Pentao L, et al. Among authors: lupski jr. Am J Hum Genet. 1992 Apr;50(4):690-9. Am J Hum Genet. 1992. PMID: 1347967 Free PMC article.

6

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p.

Guzzetta V, Franco B, Trask BJ, Zhang H, Saucedo-Cardenas O, Montes de Oca-Luna R, Greenberg F, Chinault AC, Lupski JR, Patel PI. Guzzetta V, et al. Among authors: lupski jr. Genomics. 1992 Jul;13(3):551-9. doi: 10.1016/0888-7543(92)90124-b. Genomics. 1992. PMID: 1639385

7

Molecular characterization of a patient with del(1)(q23-q25).

Franco B, Lai LW, Patterson D, Ledbetter DH, Trask BJ, van den Engh G, Iannaccone S, Frances S, Patel PI, Lupski JR. Franco B, et al. Among authors: lupski jr. Hum Genet. 1991 Jul;87(3):269-77. doi: 10.1007/BF00200903. Hum Genet. 1991. PMID: 1677922

8

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR. Greenberg F, et al. Among authors: lupski jr. Am J Hum Genet. 1991 Dec;49(6):1207-18. Am J Hum Genet. 1991. PMID: 1746552 Free PMC article.

9

Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2).

Lupski JR, Langston C, Friedman R, Ledbetter DH, Greenberg F. Lupski JR, et al. Am J Med Genet. 1991 Aug 1;40(2):196-8. doi: 10.1002/ajmg.1320400214. Am J Med Genet. 1991. PMID: 1897574

10

Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.

Patel PI, Garcia C, Montes de Oca-Luna R, Malamut RI, Franco B, Slaugenhaupt S, Chakravarti A, Lupski JR. Patel PI, et al. Among authors: lupski jr. Am J Hum Genet. 1990 Dec;47(6):926-34. Am J Hum Genet. 1990. PMID: 1978559 Free PMC article.

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