Lupski JR - Search Results

1

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Sereda MW, Lupski JR. Pehlivan D, et al. Among authors: lupski jr. Genet Med. 2016 May;18(5):443-51. doi: 10.1038/gim.2015.124. Epub 2015 Sep 17. Genet Med. 2016. PMID: 26378787 Free PMC article.

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

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.

6

Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.

Patel PI, Lupski JR. Patel PI, et al. Among authors: lupski jr. Trends Genet. 1994 Apr;10(4):128-33. doi: 10.1016/0168-9525(94)90214-3. Trends Genet. 1994. PMID: 7518101 Review.

7

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR. Wise CA, et al. Among authors: lupski jr. Am J Hum Genet. 1993 Oct;53(4):853-63. Am J Hum Genet. 1993. PMID: 8105684 Free PMC article.

8

Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition.

Roa BB, Lupski JR. Roa BB, et al. Among authors: lupski jr. Am J Med Sci. 1993 Sep;306(3):177-84. doi: 10.1097/00000441-199309000-00010. Am J Med Sci. 1993. PMID: 8128981 Review.

9

Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.

Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel PI, Lupski JR. Roa BB, et al. Among authors: lupski jr. Nat Genet. 1993 Oct;5(2):189-94. doi: 10.1038/ng1093-189. Nat Genet. 1993. PMID: 8252046

10

Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.

Zori RT, Lupski JR, Heju Z, Greenberg F, Killian JM, Gray BA, Driscoll DJ, Patel PI, Zackowski JL. Zori RT, et al. Among authors: lupski jr. Am J Med Genet. 1993 Sep 15;47(4):504-11. doi: 10.1002/ajmg.1320470414. Am J Med Genet. 1993. PMID: 8256814

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