Patel PI - Search Results

1

Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity.

Elsea SH, Fritz E, Schoener-Scott R, Meyn MS, Patel PI. Elsea SH, et al. Among authors: patel pi. Am J Med Genet. 1998 Jan 6;75(1):104-8. Am J Med Genet. 1998. PMID: 9450867

2

Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.

Elsea SH, Juyal RC, Jiralerspong S, Finucane BM, Pandolfo M, Greenberg F, Baldini A, Stover P, Patel PI. Elsea SH, et al. Among authors: patel pi. Am J Hum Genet. 1995 Dec;57(6):1342-50. Am J Hum Genet. 1995. PMID: 8533763 Free PMC article.

3

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.

Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI. Juyal RC, et al. Among authors: patel pi. Am J Hum Genet. 1996 May;58(5):998-1007. Am J Hum Genet. 1996. PMID: 8651284 Free PMC article.

4

Definition of the critical interval for Smith-Magenis syndrome.

Elsea SH, Purandare SM, Adell RA, Juyal RC, Davis JG, Finucane B, Magenis RE, Patel PI. Elsea SH, et al. Among authors: patel pi. Cytogenet Cell Genet. 1997;79(3-4):276-81. doi: 10.1159/000134742. Cytogenet Cell Genet. 1997. PMID: 9605871

5

Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome.

Elsea SH, Mykytyn K, Ferrell K, Coulter KL, Das P, Dubiel W, Patel PI, Metherall JE. Elsea SH, et al. Among authors: patel pi. Am J Med Genet. 1999 Dec 3;87(4):342-8. Am J Med Genet. 1999. PMID: 10588842

6

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

7

Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.

Juyal RC, Kuwano A, Kondo I, Zara F, Baldini A, Patel PI. Juyal RC, et al. Among authors: patel pi. Am J Med Genet. 1996 Dec 11;66(2):193-6. doi: 10.1002/(SICI)1096-8628(19961211)66:2<193::AID-AJMG13>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8958329

8

Assignment of beta-centractin (CTRN2) to human chromosome 2 bands q11.1-->q11.2 with somatic cell hybrids and in situ hybridization.

Elsea SH, Clark IB, Juyal RC, Meyer DJ, Meyer DI, Patel PI. Elsea SH, et al. Among authors: patel pi. Cytogenet Cell Genet. 1999;84(1-2):48-9. doi: 10.1159/000015211. Cytogenet Cell Genet. 1999. PMID: 10343100 No abstract available.

9

Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p11.2 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval.

Vlangos CN, Das P, Patel PI, Elsea SH. Vlangos CN, et al. Among authors: patel pi. Cytogenet Cell Genet. 2000;88(3-4):283-5. doi: 10.1159/000015539. Cytogenet Cell Genet. 2000. PMID: 10828610 No abstract available.

10

Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis.

Lucas RE, Vlangos CN, Das P, Patel PI, Elsea SH. Lucas RE, et al. Among authors: patel pi. Eur J Hum Genet. 2001 Dec;9(12):892-902. doi: 10.1038/sj.ejhg.5200734. Eur J Hum Genet. 2001. PMID: 11840190

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