Lupski JR - Search Results

1

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.

Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. Roa BB, et al. Among authors: lupski jr. Nat Genet. 1993 Nov;5(3):269-73. doi: 10.1038/ng1193-269. Nat Genet. 1993. PMID: 8275092

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

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.

6

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.

7

Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

Patel PI, Franco B, Garcia C, Slaugenhaupt SA, Nakamura Y, Ledbetter DH, Chakravarti A, Lupski JR. Patel PI, et al. Among authors: lupski jr. Am J Hum Genet. 1990 Apr;46(4):801-9. Am J Hum Genet. 1990. PMID: 2316525 Free PMC article.

8

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.

9

Settling the myelin protein zero question in CMT1B.

Warner LE, Roa BB, Lupski JR. Warner LE, et al. Among authors: lupski jr. Nat Genet. 1995 Oct;11(2):119-20. doi: 10.1038/ng1095-119. Nat Genet. 1995. PMID: 7550336 No abstract available.

10

Molecular genetics of Charcot-Marie-Tooth neuropathy.

Roa BB, Lupski JR. Roa BB, et al. Among authors: lupski jr. Adv Hum Genet. 1994;22:117-52. doi: 10.1007/978-1-4757-9062-7_3. Adv Hum Genet. 1994. PMID: 7762451 Review. No abstract available.

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