Garcia CA - Search Results

1

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: garcia ca. Nat Genet. 1992 Jun;1(3):159-65. doi: 10.1038/ng0692-159. Nat Genet. 1992. PMID: 1303228

2

Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies.

Saifi GM, Szigeti K, Snipes GJ, Garcia CA, Lupski JR. Saifi GM, et al. Among authors: garcia ca. J Investig Med. 2003 Sep;51(5):261-83. doi: 10.1136/jim-51-05-14. J Investig Med. 2003. PMID: 14577517 Review.

3

Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management.

Szigeti K, Garcia CA, Lupski JR. Szigeti K, et al. Among authors: garcia ca. Genet Med. 2006 Feb;8(2):86-92. doi: 10.1097/01.gim.0000200160.29385.73. Genet Med. 2006. PMID: 16481890 Free article.

4

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.

5

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.

6

Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.

Lupski JR, Garcia CA. Lupski JR, et al. Among authors: garcia ca. Brain Pathol. 1992 Oct;2(4):337-49. doi: 10.1111/j.1750-3639.1992.tb00710.x. Brain Pathol. 1992. PMID: 1341967 Review.

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

8

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

9

Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

Roa BB, Garcia CA, Wise CA, Anderson K, Greenberg F, Patel PI, Lupski JR. Roa BB, et al. Among authors: garcia ca. Prog Clin Biol Res. 1993;384:187-205. Prog Clin Biol Res. 1993. PMID: 8115402 Review. No abstract available.

10

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: garcia ca. Nat Genet. 1993 Oct;5(2):189-94. doi: 10.1038/ng1093-189. Nat Genet. 1993. PMID: 8252046

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