Lupski JR - Search Results

1

Detection of tandem duplications and implications for linkage analysis.

Matise TC, Chakravarti A, Patel PI, Lupski JR, Nelis E, Timmerman V, Van Broeckhoven C, Weeks DE. Matise TC, et al. Among authors: lupski jr. Am J Hum Genet. 1994 Jun;54(6):1110-21. Am J Hum Genet. 1994. PMID: 8198134 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

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

DNA duplication associated with Charcot-Marie-Tooth disease type 1A.

Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI. Lupski JR, et al. Cell. 1991 Jul 26;66(2):219-32. doi: 10.1016/0092-8674(91)90613-4. Cell. 1991. PMID: 1677316

8

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

9

Two MspI RFLPs at the D17S258 locus.

Franco B, Rincon-Limas D, Nakamura Y, Patel PI, Lupski JR. Franco B, et al. Among authors: lupski jr. Nucleic Acids Res. 1990 Dec 11;18(23):7196. doi: 10.1093/nar/18.23.7196-a. Nucleic Acids Res. 1990. PMID: 1702207 Free PMC article.

10

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.

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