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    Pragna I. Patel, PhD

    TitleProfessor of Biochemistry & Molecular Medicine
    SchoolKeck School of Medicine of USC
    DepartmentMedicine
    AddressCSC 266 2250 Alcazar Street
    Health Sciences Campus
    Los Angeles California 90089
    Phone+1 323 442 2751
    vCardDownload vCard

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      Dr. Pragna Patel is jointly appointed as Professor in the Department of Biochemistry and Molecular Biology at the Keck School of Medicine of USC and in the Division of Biomedical Sciences at the Herman Ostrow School of Dentistry of USC. Her laboratory is located within the Institute for Genetic Medicine. Before joining USC, Dr. Patel was a member of the faculty at Baylor College of Medicine in Houston from 1987 through 2003. For over two decades, she has pursued gene discovery for a number of inherited disorders. Her laboratory played a major role in the discovery of unprecedented mechanisms for Charcot-Marie-Tooth disease type 1A (CMT1A), which is the most common inherited neuropathy, and for Friedreich ataxia, a devastating neurological disorder that afflicts children in the first decade of life. These studies led to the development of DNA-based tests for these diseases, thereby enabling easier diagnosis of these conditions. These discoveries as well as her many contributions to the genetics of other human disorders have brought her laboratory international acclaim. Besides contributing to the discovery of disease genes, her laboratory has also contributed to an understanding of how the genes are normally regulated using cell culture and animal models, and is interested in developing therapies for these diseases. Her lab is currently conducting a drug screen for CMT1A. Her lab has also been interested in the genetics of common diseases in Asian Indians. Laying the foundation for the latter has been the goal of her studies on the genetic structure of Asian Indian populations speaking 15 different languages as well as studies on the impact of restricted marital practices within an endogamic Indian population.


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      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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      1. Patel P, Pleasure D. Whither hope for pharmacological treatment of Charcot-Marie-Tooth disease type 1A? JAMA Neurol. 2013 Aug; 70(8):969-71. PMID: 23797977.
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      2. Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel P, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Hum Mol Genet. 2013 Mar 1; 22(5):1026-38. PMID: 23221805.
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      3. Ng CS, Wu P, Foley J, Foley A, McDonald ML, Juan WT, Huang CJ, Lai YT, Lo WS, Chen CF, Leal SM, Zhang H, Widelitz RB, Patel P, Li WH, Chuong CM. The Chicken Frizzle Feather Is Due to an a-Keratin (KRT75) Mutation That Causes a Defective Rachis. PLoS Genet. 2012 Jul; 8(7):e1002748. PMID: 22829773.
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      4. Pemberton TJ, Li FY, Hanson EK, Mehta NU, Choi S, Ballantyne J, Belmont JW, Rosenberg NA, Tyler-Smith C, Patel P. Impact of restricted marital practices on genetic variation in an endogamous Gujarati group. Am J Phys Anthropol. 2012 Sep; 149(1):92-103. PMID: 22729696.
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      5. Sullivan TJ, Patel P, Hutchinson A, Ethridge SF, Parker MM. Evaluation of pooling strategies for acute HIV-1 infection screening using nucleic acid amplification testing. J Clin Microbiol. 2011 Oct; 49(10):3667-8. PMID: 21832020.
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      6. Zhu H, Shang D, Sun M, Choi S, Liu Q, Hao J, Figuera LE, Zhang F, Choy KW, Ao Y, Liu Y, Zhang XL, Yue F, Wang MR, Jin L, Patel P, Jing T, Zhang X. X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3. Am J Hum Genet. 2011 Jun 10; 88(6):819-26. PMID: 21636067.
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      7. Pemberton TJ, Mehta NU, Witonsky D, Di Rienzo A, Allayee H, Conti DV, Patel P. Prevalence of common disease-associated variants in Asian Indians. BMC Genet. 2008; 9:13. PMID: 18248681.
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      8. Pemberton TJ, Li FY, Oka S, Mendoza-Fandino GA, Hsu YH, Bringas P, Chai Y, Snead ML, Mehrian-Shai R, Patel P. Identification of novel genes expressed during mouse tooth development by microarray gene expression analysis. Dev Dyn. 2007 Aug; 236(8):2245-57. PMID: 17626284.
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      9. Pemberton TJ, Mendoza G, Gee J, Patel P. Inherited dental anomalies: a review and prospects for the future role of clinicians. J Calif Dent Assoc. 2007 May; 35(5):324-6, 328-33. PMID: 17822158.
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      10. Tarpey P, Pemberton TJ, Stockton DW, Das P, Ninis V, Edkins S, Andrew Futreal P, Wooster R, Kamath S, Nayak R, Stratton MR, Patel P. A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. Am J Med Genet A. 2007 Feb 15; 143(4):390-4. PMID: 17256800.
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      11. Se Fum Wong S, Kuei JJ, Prasad N, Agonafer E, Mendoza GA, Pemberton TJ, Patel P. A simple method for DNA isolation from clotted blood extricated rapidly from serum separator tubes. Clin Chem. 2007 Mar; 53(3):522-4. PMID: 17234731.
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      12. Rosenberg NA, Mahajan S, Gonzalez-Quevedo C, Blum MG, Nino-Rosales L, Ninis V, Das P, Hegde M, Molinari L, Zapata G, Weber JL, Belmont JW, Patel P. Low levels of genetic divergence across geographically and linguistically diverse populations from India. PLoS Genet. 2006 Dec; 2(12):e215. PMID: 17194221.
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      13. Mendoza G, Pemberton TJ, Lee K, Scarel-Caminaga R, Mehrian-Shai R, Gonzalez-Quevedo C, Ninis V, Hartiala J, Allayee H, Snead ML, Leal SM, Line SR, Patel P. A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. Hum Genet. 2007 Jan; 120(5):653-62. PMID: 17024372.
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      14. Pemberton TJ, Gee J, Patel P. Gene discovery for dental anomalies: a primer for the dental professional. J Am Dent Assoc. 2006 Jun; 137(6):743-52. PMID: 16803803.
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      15. Tymchuk CN, Hartiala J, Patel P, Mehrabian M, Allayee H. Nonconventional genetic risk factors for cardiovascular disease. Curr Atheroscler Rep. 2006 May; 8(3):184-92. PMID: 16640955.
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      16. Yang N, Li H, Criswell LA, Gregersen PK, Alarcon-Riquelme ME, Kittles R, Shigeta R, Silva G, Patel P, Belmont JW, Seldin MF. Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine. Hum Genet. 2005 Dec; 118(3-4):382-92. PMID: 16193326.
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      17. Nino-Rosales ML, Patel P. Genes underlying familial hypodontia: a review and discussion of the role of dental hygienists in future research. J Dent Hyg. 2005; 79(3):10. PMID: 16197775.
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      18. Bi W, Park SS, Shaw CJ, Withers MA, Patel P, Lupski JR. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet. 2003 Dec; 73(6):1302-15. PMID: 14639526.
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      19. Das P, Hai M, Elcock C, Leal SM, Brown DT, Brook AH, Patel P. Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. Am J Med Genet A. 2003 Apr 1; 118A(1):35-42. PMID: 12605438.
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      20. Hai M, Muja N, DeVries GH, Quarles RH, Patel P. Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies. J Neurosci Res. 2002 Aug 15; 69(4):497-508. PMID: 12210843.
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      21. Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright T, Patel P. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet. 2002 Apr; 110(4):371-6. PMID: 11941488.
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      22. Lucas RE, Vlangos CN, Das P, Patel P, Elsea SH. Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. Eur J Hum Genet. 2001 Dec; 9(12):892-902. PMID: 11840190.
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      23. Hai M, Bidichandani SI, Patel P. Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene. J Neurosci Res. 2001 Sep 15; 65(6):508-19. PMID: 11550219.
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      24. Hai M, Bidichandani SI, Hogan ME, Patel P. Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene. Antisense Nucleic Acid Drug Dev. 2001 Aug; 11(4):233-46. PMID: 11572600.
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      25. Patel P, Isaya G. Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency. Am J Hum Genet. 2001 Jul; 69(1):15-24. PMID: 11391483.
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      26. Cavadini P, Gellera C, Patel P, Isaya G. Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae. Hum Mol Genet. 2000 Oct 12; 9(17):2523-30. PMID: 11030757.
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      27. Patel P, Dimachkie MM. Atypical friedreich ataxia with a very late onset and an unusual limited GAA repeat Arch Neurol. 2000 Sep; 57(9):1380-2. PMID: 10987913.
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      28. Goldenberg M, Das P, Messersmith M, Stockton DW, Patel P, D'Souza RN. Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia. J Dent Res. 2000 Jul; 79(7):1469-75. PMID: 11005730.
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      29. Désarnaud F, Bidichandani S, Patel P, Baulieu EE, Schumacher M. Glucocorticosteroids stimulate the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells. Brain Res. 2000 May 19; 865(1):12-6. PMID: 10814728.
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      30. Bidichandani SI, Garcia CA, Patel P, Dimachkie MM. Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions. Arch Neurol. 2000 Feb; 57(2):246-51. PMID: 10681084.
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      31. Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel P. Mutation of PAX9 is associated with oligodontia. Nat Genet. 2000 Jan; 24(1):18-9. PMID: 10615120.
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      32. Vlangos CN, Das P, Patel P, Elsea SH. 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. Cytogenet Cell Genet. 2000; 88(3-4):283-5. PMID: 10828610.
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      33. Elsea SH, Mykytyn K, Ferrell K, Coulter KL, Das P, Dubiel W, Patel P, Metherall JE. Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome. Am J Med Genet. 1999 Dec 3; 87(4):342-8. PMID: 10588842.
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      34. Bidichandani SI, Purandare SM, Taylor EE, Gumin G, Machkhas H, Harati Y, Gibbs RA, Ashizawa T, Patel P. Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence. Hum Mol Genet. 1999 Dec; 8(13):2425-36. PMID: 10556290.
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      35. Elsea SH, Clark IB, Juyal RC, Meyer DJ, Meyer DI, Patel P. Assignment of beta-centractin (CTRN2) to human chromosome 2 bands q11.1-->q11.2 with somatic cell hybrids and in situ hybridization. Cytogenet Cell Genet. 1999; 84(1-2):48-9. PMID: 10343100.
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      36. Sun D, McDonnell M, Chen XS, Lakkis MM, Li H, Isaacs SN, Elsea SH, Patel P, Funk CD. Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment. J Biol Chem. 1998 Dec 11; 273(50):33540-7. PMID: 9837935.
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      37. Higgins JJ, Loveless JM, Jankovic J, Patel P. Evidence that a gene for essential tremor maps to chromosome 2p in four families. Mov Disord. 1998 Nov; 13(6):972-7. PMID: 9827627.
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      38. Zara F, Labuda M, Garofalo PG, Durisotti C, Bianchi A, Castellotti B, Patel P, Avanzini G, Pandolfo M. Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy. Neurology. 1998 Aug; 51(2):493-8. PMID: 9710024.
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      39. Nelis E, De Jonghe P, De Vriendt E, Patel P, Martin JJ, Van Broeckhoven C. Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP. J Med Genet. 1998 Jul; 35(7):590-3. PMID: 9678704.
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      40. Park JP, Moeschler JB, Davies WS, Patel P, Mohandas TK. Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2. Am J Med Genet. 1998 Apr 28; 77(1):23-7. PMID: 9557889.
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      41. Machkhas H, Bidichandani SI, Patel P, Harati Y. A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism. Muscle Nerve. 1998 Mar; 21(3):390-3. PMID: 9486868.
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      42. Elsea SH, Fritz E, Schoener-Scott R, Meyn MS, Patel P. Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity. Am J Med Genet. 1998 Jan 6; 75(1):104-8. PMID: 9450867.
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      43. Sun D, Elsea SH, Patel P, Funk CD. Cloning of a human "epidermal-type" 12-lipoxygenase-related gene and chromosomal localization to 17p13. Cytogenet Cell Genet. 1998; 81(1):79-82. PMID: 9691181.
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      44. Purandare SM, Lee JD, Patel P. Assignment of big MAP kinase (PRKM7) to human chromosome 17 band p11.2 with somatic cell hybrids. Cytogenet Cell Genet. 1998; 83(3-4):258-9. PMID: 10072598.
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      45. Bidichandani SI, Ashizawa T, Patel P. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet. 1998 Jan; 62(1):111-21. PMID: 9443873.
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      46. Purandare SM, Patel P. Recombination hot spots and human disease. Genome Res. 1997 Aug; 7(8):773-86. PMID: 9267802.
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      47. Bidichandani SI, Ashizawa T, Patel P. Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. Am J Hum Genet. 1997 May; 60(5):1251-6. PMID: 9150176.
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      48. Yang SP, Bidichandani SI, Figuera LE, Juyal RC, Saxon PJ, Baldini A, Patel P. Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions. Am J Hum Genet. 1997 May; 60(5):1184-93. PMID: 9150166.
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      49. Fritz E, Elsea SH, Patel P, Meyn MS. Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype. Proc Natl Acad Sci U S A. 1997 Apr 29; 94(9):4538-42. PMID: 9114025.
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      50. Cossée M, Campuzano V, Koutnikova H, Fischbeck K, Mandel JL, Koenig M, Bidichandani SI, Patel P, Moltè MD, Cañizares J, De Frutos R, Pianese L, Cavalcanti F, Monticelli A, Cocozza S, Montermini L, Pandolfo M. Frataxin fracas. Nat Genet. 1997 Apr; 15(4):337-8. PMID: 9090376.
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      51. Jankovic J, Beach J, Pandolfo M, Patel P. Familial essential tremor in 4 kindreds. Prospects for genetic mapping. Arch Neurol. 1997 Mar; 54(3):289-94. PMID: 9074398.
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      52. Elsea SH, Purandare SM, Adell RA, Juyal RC, Davis JG, Finucane B, Magenis RE, Patel P. Definition of the critical interval for Smith-Magenis syndrome. Cytogenet Cell Genet. 1997; 79(3-4):276-81. PMID: 9605871.
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      53. Juyal RC, Kuwano A, Kondo I, Zara F, Baldini A, Patel P. Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome. Am J Med Genet. 1996 Dec 11; 66(2):193-6. PMID: 8958329.
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      54. Trask BJ, Mefford H, van den Engh G, Massa HF, Juyal RC, Potocki L, Finucane B, Abuelo DN, Witt DR, Magenis E, Baldini A, Greenberg F, Lupski JR, Patel P. Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Hum Genet. 1996 Dec; 98(6):710-8. PMID: 8931707.
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      55. Nimgaonkar VL, Sanders AR, Ganguli R, Zhang XR, Brar J, Hogge W, Fann WE, Patel P, Chakravarti A. Association study of schizophrenia and the dopamine D3 receptor gene locus in two independent samples. Am J Med Genet. 1996 Nov 22; 67(6):505-14. PMID: 8950407.
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      56. Patel P. Quest for the elusive genetic basis of Tourette syndrome. Am J Hum Genet. 1996 Nov; 59(5):980-2. PMID: 8900223.
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      57. Jiralerspong S, Patel P. Regulation of the hypoxanthine phosphoribosyltransferase gene: in vitro and in vivo approaches. Proc Soc Exp Biol Med. 1996 Jun; 212(2):116-27. PMID: 8650248.
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      58. Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel P. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet. 1996 May; 58(5):998-1007. PMID: 8651284.
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      59. Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel P, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996 Mar 8; 271(5254):1423-7. PMID: 8596916.
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      60. Elsea SH, Juyal RC, Jiralerspong S, Finucane BM, Pandolfo M, Greenberg F, Baldini A, Stover P, Patel P. Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. Am J Hum Genet. 1995 Dec; 57(6):1342-50. PMID: 8533763.
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      61. Rincón-Limas DE, Amaya-Manzanares F, Niño-Rosales ML, Yu Y, Yang TP, Patel P. Ubiquitous and neuronal DNA-binding proteins interact with a negative regulatory element of the human hypoxanthine phosphoribosyltransferase gene. Mol Cell Biol. 1995 Dec; 15(12):6561-71. PMID: 8524221.
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      62. Juyal RC, Finucane B, Shaffer LG, Lupski JR, Greenberg F, Scott CI, Baldini A, Patel P. Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient. Am J Med Genet. 1995 Nov 20; 59(3):406-7. PMID: 8599375.
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      63. Zara F, Bianchi A, Avanzini G, Di Donato S, Castellotti B, Patel P, Pandolfo M. Mapping of genes predisposing to idiopathic generalized epilepsy. Hum Mol Genet. 1995 Jul; 4(7):1201-7. PMID: 8528209.
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      64. Figuera LE, Pandolfo M, Dunne PW, Cantú JM, Patel P. Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1. Nat Genet. 1995 Jun; 10(2):202-7. PMID: 7663516.
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      65. Zhao Z, Lee CC, Jiralerspong S, Juyal RC, Lu F, Baldini A, Greenberg F, Caskey CT, Patel P. The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum Mol Genet. 1995 Apr; 4(4):589-97. PMID: 7633408.
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      66. Suter U, Snipes GJ, Schoener-Scott R, Welcher AA, Pareek S, Lupski JR, Murphy RA, Shooter EM, Patel P. Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J Biol Chem. 1994 Oct 14; 269(41):25795-808. PMID: 7929285.
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      67. Rincón-Limas DE, Geske RS, Xue JJ, Hsu CY, Overbeek PA, Patel P. 5'-flanking sequences of the human HPRT gene direct neuronal expression in the brain of transgenic mice. J Neurosci Res. 1994 Jun 15; 38(3):259-67. PMID: 7523686.
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      68. Matise TC, Chakravarti A, Patel P, Lupski JR, Nelis E, Timmerman V, Van Broeckhoven C, Weeks DE. Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet. 1994 Jun; 54(6):1110-21. PMID: 8198134.
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      69. Patel P, Lupski JR. Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet. 1994 Apr; 10(4):128-33. PMID: 7518101.
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      70. Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel P, Lupski JR. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet. 1994 Feb; 3(2):223-8. PMID: 8004087.
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      71. Suter U, Patel P. Genetic basis of inherited peripheral neuropathies. Hum Mutat. 1994; 3(2):95-102. PMID: 7515304.
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      72. Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel P, Lupski JR. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet. 1993 Oct; 5(2):189-94. PMID: 8252046.
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      73. Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel P, Lupski JR. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet. 1993 Oct; 53(4):853-63. PMID: 8105684.
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      74. Zori RT, Lupski JR, Heju Z, Greenberg F, Killian JM, Gray BA, Driscoll DJ, Patel P, Zackowski JL. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am J Med Genet. 1993 Sep 15; 47(4):504-11. PMID: 8256814.
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      75. Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel P, Lupski JR. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med. 1993 Jul 8; 329(2):96-101. PMID: 8510709.
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      76. Patel P. Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene. Curr Opin Genet Dev. 1993 Jun; 3(3):438-44. PMID: 8353419.
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      77. Patel P. Identification of disease genes and somatic gene therapy: an overview and prospects for the aged. J Gerontol. 1993 May; 48(3):B80-5. PMID: 8482809.
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      78. Lupski JR, Pentao L, Williams LL, Patel P. Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. Am J Med Genet. 1993 Jan 1; 45(1):92-6. PMID: 8418668.
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      79. Roa BB, Garcia CA, Wise CA, Anderson K, Greenberg F, Patel P, Lupski JR. Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A. Prog Clin Biol Res. 1993; 384:187-205. PMID: 8115402.
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      80. Sanders AR, Rincon-Limas DE, Chakraborty R, Grandchamp B, Hamilton JD, Fann WE, Patel P. Association between genetic variation at the porphobilinogen deaminase gene and schizophrenia. Schizophr Res. 1993 Jan; 8(3):211-21. PMID: 8094629.
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      81. Pentao L, Wise CA, Chinault AC, Patel P, Lupski JR. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet. 1992 Dec; 2(4):292-300. PMID: 1303282.
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      82. Guzzetta V, Franco B, Trask BJ, Zhang H, Saucedo-Cardenas O, Montes de Oca-Luna R, Greenberg F, Chinault AC, Lupski JR, Patel P. Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p. Genomics. 1992 Jul; 13(3):551-9. PMID: 1639385.
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      83. Patel P, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Jun; 1(3):159-65. PMID: 1303228.
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      84. Pentao L, Lewis RA, Ledbetter DH, Patel P, Lupski JR. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet. 1992 Apr; 50(4):690-9. PMID: 1347967.
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      85. Lupski JR, Wise CA, Kuwano A, Pentao L, Parke JT, Glaze DG, Ledbetter DH, Greenberg F, Patel P. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Apr; 1(1):29-33. PMID: 1301995.
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      86. Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel P, Lupski JR. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet. 1991 Dec; 49(6):1207-18. PMID: 1746552.
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      87. Rincón-Limas DE, Krueger DA, Patel P. Functional characterization of the human hypoxanthine phosphoribosyltransferase gene promoter: evidence for a negative regulatory element. Mol Cell Biol. 1991 Aug; 11(8):4157-64. PMID: 1712904.
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      88. 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 P. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991 Jul 26; 66(2):219-32. PMID: 1677316.
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      89. Franco B, Lai LW, Patterson D, Ledbetter DH, Trask BJ, van den Engh G, Iannaccone S, Frances S, Patel P, Lupski JR. Molecular characterization of a patient with del(1)(q23-q25). Hum Genet. 1991 Jul; 87(3):269-77. PMID: 1677922.
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      90. Guzzetta V, Montes de Oca-Luna R, Lupski JR, Patel P. Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction. Genomics. 1991 Jan; 9(1):31-6. PMID: 2004767.
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      91. Franco B, Rincon-Limas D, Nakamura Y, Patel P, Lupski JR. Two MspI RFLPs at the D17S258 locus. Nucleic Acids Res. 1990 Dec 11; 18(23):7196. PMID: 1702207.
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      92. Patel P, Garcia C, Montes de Oca-Luna R, Malamut RI, Franco B, Slaugenhaupt S, Chakravarti A, Lupski JR. Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. Am J Hum Genet. 1990 Dec; 47(6):926-34. PMID: 1978559.
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      93. Ray R, Rincon-Limas D, Wright RA, Davis SN, Lupski JR, Patel P. Three polymorphisms at the D17S29 locus. Nucleic Acids Res. 1990 Aug 25; 18(16):4958. PMID: 1975670.
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      94. Patel P, Franco B, Garcia C, Slaugenhaupt SA, Nakamura Y, Ledbetter DH, Chakravarti A, Lupski JR. Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet. 1990 Apr; 46(4):801-9. PMID: 2316525.
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      95. Patel P, Ledbetter DH, Frances S, Franco B, Wallace MR, Collins FS, Lupski JR. Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251]. Nucleic Acids Res. 1990 Feb 25; 18(4):1087. PMID: 1969146.
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      96. Yang TP, Stout JT, Konecki DS, Patel P, Alford RL, Caskey CT. Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement. Somat Cell Mol Genet. 1988 May; 14(3):293-303. PMID: 2835825.
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      97. Patel P, Framson PE, Caskey CT, Chinault AC. Fine structure of the human hypoxanthine phosphoribosyltransferase gene. Mol Cell Biol. 1986 Feb; 6(2):393-403. PMID: 3023844.
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      98. Chang SM, Tsao TY, Patel P, Chinault AC, Melton DW, Caskey CT. Expression of human and mouse HPRT minigenes. Adv Exp Med Biol. 1986; 195 Pt A:231-6. PMID: 3755277.
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      99. Patel P, Yang TP, Stout JT, Konecki DS, Chinault AC, Caskey CT. Mutational diversity at the human HPRT locus. Prog Clin Biol Res. 1986; 209A:457-63. PMID: 3749060.
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      100. Patel P, Nussbaum RL, gramson PE, Ledbetter DH, Caskey CT, Chinault AC. Organization of the HPRT gene and related sequences in the human genome. Somat Cell Mol Genet. 1984 Sep; 10(5):483-93. PMID: 6089358.
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      101. Yang TP, Patel P, Chinault AC, Stout JT, Jackson LG, Hildebrand BM, Caskey CT. Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. Nature. 1984 Aug 2-8; 310(5976):412-4. PMID: 6087154.
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      102. Myers CA, Patel P, Miller MR. Subcellular location of a soluble factor that stimulates DNA replication in permeable animal cells. Exp Cell Res. 1983 Jan; 143(1):227-36. PMID: 6825720.
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