Patel PI - Search Results

1

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. Among authors: patel pi. Cell. 1991 Jul 26;66(2):219-32. doi: 10.1016/0092-8674(91)90613-4. Cell. 1991. PMID: 1677316

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. Among authors: patel pi. 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. 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: patel pi. Nat Genet. 1992 Dec;2(4):292-300. doi: 10.1038/ng1292-292. Nat Genet. 1992. PMID: 1303282

5

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: patel pi. Genomics. 1992 Jul;13(3):551-9. doi: 10.1016/0888-7543(92)90124-b. Genomics. 1992. PMID: 1639385

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. Am J Hum Genet. 1990 Dec;47(6):926-34. Am J Hum Genet. 1990. PMID: 1978559 Free PMC article.

7

Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction.

Guzzetta V, Montes de Oca-Luna R, Lupski JR, Patel PI. Guzzetta V, et al. Among authors: patel pi. Genomics. 1991 Jan;9(1):31-6. doi: 10.1016/0888-7543(91)90217-3. Genomics. 1991. PMID: 2004767

8

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. Am J Hum Genet. 1990 Apr;46(4):801-9. Am J Hum Genet. 1990. PMID: 2316525 Free PMC article.

9

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

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

10

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: patel pi. Am J Hum Genet. 1993 Oct;53(4):853-63. Am J Hum Genet. 1993. PMID: 8105684 Free PMC article.

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