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Pragna I. Patel, PhD
Professor of Biochemistry & Molecular Biology
Biochemistry and Molecular Biology
CSC 266 2250 Alcazar Street Health Sciences Campus Los Angeles
+1 323 442 2751


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.


Pemberton TJ, Choi S, Mayer JA, Li FY, Gokey N, Svaren J, Safra N, Bannasch DL, Sullivan K, Breuhaus B, Patel PI, Duncan ID. A mutation in the canine gene encoding folliculin-interacting protein 2 (FNIP2) associated with a unique disruption in spinal cord myelination. Glia. 2014 Jan; 62(1):39-51. View in: PubMed

Patel PI, Pleasure D. Whither hope for pharmacological treatment of Charcot-Marie-Tooth disease type 1A? JAMA Neurol. 2013 Aug; 70(8):969-71. View in: PubMed

Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, 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. View in: PubMed

Pemberton TJ, Li FY, Hanson EK, Mehta NU, Choi S, Ballantyne J, Belmont JW, Rosenberg NA, Tyler-Smith C, Patel PI. Impact of restricted marital practices on genetic variation in an endogamous Gujarati group. Am J Phys Anthropol. 2012 Sep; 149(1):92-103. View in: PubMed

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 PI, 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. View in: PubMed

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. View in: PubMed

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 PI, 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. View in: PubMed

Pemberton TJ, Mehta NU, Witonsky D, Di Rienzo A, Allayee H, Conti DV, Patel PI. Prevalence of common disease-associated variants in Asian Indians. BMC Genet. 2008; 9:13. View in: PubMed

Pemberton TJ, Li FY, Oka S, Mendoza-Fandino GA, Hsu YH, Bringas P, Chai Y, Snead ML, Mehrian-Shai R, Patel PI. Identification of novel genes expressed during mouse tooth development by microarray gene expression analysis. Dev Dyn. 2007 Aug; 236(8):2245-57. View in: PubMed

Pemberton TJ, Mendoza G, Gee J, Patel PI. 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. View in: PubMed

Se Fum Wong S, Kuei JJ, Prasad N, Agonafer E, Mendoza GA, Pemberton TJ, Patel PI. A simple method for DNA isolation from clotted blood extricated rapidly from serum separator tubes. Clin Chem. 2007 Mar; 53(3):522-4. View in: PubMed

Tarpey P, Pemberton TJ, Stockton DW, Das P, Ninis V, Edkins S, Andrew Futreal P, Wooster R, Kamath S, Nayak R, Stratton MR, Patel PI. 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. View in: PubMed

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 PI. A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24. 3. Hum Genet. 2007 Jan; 120(5):653-62. View in: PubMed

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 PI. Low levels of genetic divergence across geographically and linguistically diverse populations from India. PLoS Genet. 2006 Dec; 2(12):e215. View in: PubMed

Pemberton TJ, Gee J, Patel PI. Gene discovery for dental anomalies: a primer for the dental professional. J Am Dent Assoc. 2006 Jun; 137(6):743-52. View in: PubMed

Tymchuk CN, Hartiala J, Patel PI, Mehrabian M, Allayee H. Nonconventional genetic risk factors for cardiovascular disease. Curr Atheroscler Rep. 2006 May; 8(3):184-92. View in: PubMed

Yang N, Li H, Criswell LA, Gregersen PK, Alarcon-Riquelme ME, Kittles R, Shigeta R, Silva G, Patel PI, 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. View in: PubMed

Nino-Rosales ML, Patel PI. Genes underlying familial hypodontia: a review and discussion of the role of dental hygienists in future research. J Dent Hyg. 2005; 79(3):10. View in: PubMed

Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, 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. View in: PubMed

Das P, Hai M, Elcock C, Leal SM, Brown DT, Brook AH, Patel PI. 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. View in: PubMed

Hai M, Muja N, DeVries GH, Quarles RH, Patel PI. Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies. J Neurosci Res. 2002 Aug 15; 69(4):497-508. View in: PubMed

Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright T, Patel PI. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet. 2002 Apr; 110(4):371-6. View in: PubMed

Lucas RE, Vlangos CN, Das P, Patel PI, 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. View in: PubMed

Hai M, Bidichandani SI, Patel PI. 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. View in: PubMed

Hai M, Bidichandani SI, Hogan ME, Patel PI. 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. View in: PubMed

Patel PI, Isaya G. Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency. Am J Hum Genet. 2001 Jul; 69(1):15-24. View in: PubMed

Cavadini P, Gellera C, Patel PI, Isaya G. Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae. Hum Mol Genet. 2000 Oct 12; 9(17):2523-30. View in: PubMed

Patel PI, Dimachkie MM. Atypical friedreich ataxia with a very late onset and an unusual limited GAA repeat Arch Neurol. 2000 Sep; 57(9):1380-2. View in: PubMed

Goldenberg M, Das P, Messersmith M, Stockton DW, Patel PI, 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. View in: PubMed

Désarnaud F, Bidichandani S, Patel PI, 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. View in: PubMed

Bidichandani SI, Garcia CA, Patel PI, Dimachkie MM. Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions. Arch Neurol. 2000 Feb; 57(2):246-51. View in: PubMed

Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI. Mutation of PAX9 is associated with oligodontia. Nat Genet. 2000 Jan; 24(1):18-9. View in: PubMed

Vlangos CN, Das P, Patel PI, 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. View in: PubMed

Elsea SH, Mykytyn K, Ferrell K, Coulter KL, Das P, Dubiel W, Patel PI, 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. View in: PubMed

Bidichandani SI, Purandare SM, Taylor EE, Gumin G, Machkhas H, Harati Y, Gibbs RA, Ashizawa T, Patel PI. 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. View in: PubMed

Elsea SH, Clark IB, Juyal RC, Meyer DJ, Meyer DI, Patel PI. 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. View in: PubMed

Sun D, McDonnell M, Chen XS, Lakkis MM, Li H, Isaacs SN, Elsea SH, Patel PI, 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. View in: PubMed

Higgins JJ, Loveless JM, Jankovic J, Patel PI. Evidence that a gene for essential tremor maps to chromosome 2p in four families. Mov Disord. 1998 Nov; 13(6):972-7. View in: PubMed

Zara F, Labuda M, Garofalo PG, Durisotti C, Bianchi A, Castellotti B, Patel PI, 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. View in: PubMed

Nelis E, De Jonghe P, De Vriendt E, Patel PI, 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. View in: PubMed

Park JP, Moeschler JB, Davies WS, Patel PI, 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. View in: PubMed

Machkhas H, Bidichandani SI, Patel PI, 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. View in: PubMed

Elsea SH, Fritz E, Schoener-Scott R, Meyn MS, Patel PI. 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. View in: PubMed

Purandare SM, Lee JD, Patel PI. 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. View in: PubMed

Bidichandani SI, Ashizawa T, Patel PI. 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. View in: PubMed

Sun D, Elsea SH, Patel PI, 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. View in: PubMed

Purandare SM, Patel PI. Recombination hot spots and human disease. Genome Res. 1997 Aug; 7(8):773-86. View in: PubMed

Bidichandani SI, Ashizawa T, Patel PI. 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. View in: PubMed

Yang SP, Bidichandani SI, Figuera LE, Juyal RC, Saxon PJ, Baldini A, Patel PI. 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. View in: PubMed

Fritz E, Elsea SH, Patel PI, 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. View in: PubMed

Cossée M, Campuzano V, Koutnikova H, Fischbeck K, Mandel JL, Koenig M, Bidichandani SI, Patel PI, 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. View in: PubMed

Jankovic J, Beach J, Pandolfo M, Patel PI. Familial essential tremor in 4 kindreds. Prospects for genetic mapping. Arch Neurol. 1997 Mar; 54(3):289-94. View in: PubMed

Elsea SH, Purandare SM, Adell RA, Juyal RC, Davis JG, Finucane B, Magenis RE, Patel PI. Definition of the critical interval for Smith-Magenis syndrome. Cytogenet Cell Genet. 1997; 79(3-4):276-81. View in: PubMed

Juyal RC, Kuwano A, Kondo I, Zara F, Baldini A, Patel PI. Mosaicism for del(17)(p11. 2p11. 2) underlying the Smith-Magenis syndrome. Am J Med Genet. 1996 Dec 11; 66(2):193-6. View in: PubMed

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 PI. Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Hum Genet. 1996 Dec; 98(6):710-8. View in: PubMed

Nimgaonkar VL, Sanders AR, Ganguli R, Zhang XR, Brar J, Hogge W, Fann WE, Patel PI, 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. View in: PubMed

Patel PI. Quest for the elusive genetic basis of Tourette syndrome. Am J Hum Genet. 1996 Nov; 59(5):980-2. View in: PubMed

Jiralerspong S, Patel PI. Regulation of the hypoxanthine phosphoribosyltransferase gene: in vitro and in vivo approaches. Proc Soc Exp Biol Med. 1996 Jun; 212(2):116-27. View in: PubMed

Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI. Molecular analyses of 17p11. 2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet. 1996 May; 58(5):998-1007. View in: PubMed

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 PI, 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. View in: PubMed

Elsea SH, Juyal RC, Jiralerspong S, Finucane BM, Pandolfo M, Greenberg F, Baldini A, Stover P, Patel PI. Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. Am J Hum Genet. 1995 Dec; 57(6):1342-50. View in: PubMed

Rincón-Limas DE, Amaya-Manzanares F, Niño-Rosales ML, Yu Y, Yang TP, Patel PI. 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. View in: PubMed

Juyal RC, Finucane B, Shaffer LG, Lupski JR, Greenberg F, Scott CI, Baldini A, Patel PI. 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. View in: PubMed

Zara F, Bianchi A, Avanzini G, Di Donato S, Castellotti B, Patel PI, Pandolfo M. Mapping of genes predisposing to idiopathic generalized epilepsy. Hum Mol Genet. 1995 Jul; 4(7):1201-7. View in: PubMed

Figuera LE, Pandolfo M, Dunne PW, Cantú JM, Patel PI. Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27. 1. Nat Genet. 1995 Jun; 10(2):202-7. View in: PubMed

Zhao Z, Lee CC, Jiralerspong S, Juyal RC, Lu F, Baldini A, Greenberg F, Caskey CT, Patel PI. 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. View in: PubMed

Suter U, Snipes GJ, Schoener-Scott R, Welcher AA, Pareek S, Lupski JR, Murphy RA, Shooter EM, Patel PI. 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. View in: PubMed

Rincón-Limas DE, Geske RS, Xue JJ, Hsu CY, Overbeek PA, Patel PI. 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. View in: PubMed

Matise TC, Chakravarti A, Patel PI, 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. View in: PubMed

Patel PI, Lupski JR. Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet. 1994 Apr; 10(4):128-33. View in: PubMed

Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, 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. View in: PubMed

Suter U, Patel PI. Genetic basis of inherited peripheral neuropathies. Hum Mutat. 1994; 3(2):95-102. View in: PubMed

Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, 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. View in: PubMed

Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel PI, Lupski JR. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet. 1993 Oct; 5(2):189-94. View in: PubMed

Zori RT, Lupski JR, Heju Z, Greenberg F, Killian JM, Gray BA, Driscoll DJ, Patel PI, 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. View in: PubMed

Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, 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. View in: PubMed

Patel PI. Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene. Curr Opin Genet Dev. 1993 Jun; 3(3):438-44. View in: PubMed

Patel PI. Identification of disease genes and somatic gene therapy: an overview and prospects for the aged. J Gerontol. 1993 May; 48(3):B80-5. View in: PubMed

Roa BB, Garcia CA, Wise CA, Anderson K, Greenberg F, Patel PI, 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. View in: PubMed

Lupski JR, Pentao L, Williams LL, Patel PI. 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. View in: PubMed

Sanders AR, Rincon-Limas DE, Chakraborty R, Grandchamp B, Hamilton JD, Fann WE, Patel PI. Association between genetic variation at the porphobilinogen deaminase gene and schizophrenia. Schizophr Res. 1993 Jan; 8(3):211-21. View in: PubMed

Pentao L, Wise CA, Chinault AC, Patel PI, 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. View in: PubMed

Guzzetta V, Franco B, Trask BJ, Zhang H, Saucedo-Cardenas O, Montes de Oca-Luna R, Greenberg F, Chinault AC, Lupski JR, Patel PI. 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. View in: PubMed

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. 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. View in: PubMed

Lupski JR, Wise CA, Kuwano A, Pentao L, Parke JT, Glaze DG, Ledbetter DH, Greenberg F, Patel PI. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Apr; 1(1):29-33. View in: PubMed

Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet. 1992 Apr; 50(4):690-9. View in: PubMed

Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, 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. View in: PubMed

Rincón-Limas DE, Krueger DA, Patel PI. Functional characterization of the human hypoxanthine phosphoribosyltransferase gene promoter: evidence for a negative regulatory element. Mol Cell Biol. 1991 Aug; 11(8):4157-64. View in: PubMed

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. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991 Jul 26; 66(2):219-32. View in: PubMed

Franco B, Lai LW, Patterson D, Ledbetter DH, Trask BJ, van den Engh G, Iannaccone S, Frances S, Patel PI, Lupski JR. Molecular characterization of a patient with del(1)(q23-q25). Hum Genet. 1991 Jul; 87(3):269-77. View in: PubMed

Guzzetta V, Montes de Oca-Luna R, Lupski JR, Patel PI. Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction. Genomics. 1991 Jan; 9(1):31-6. View in: PubMed

Franco B, Rincon-Limas D, Nakamura Y, Patel PI, Lupski JR. Two MspI RFLPs at the D17S258 locus. Nucleic Acids Res. 1990 Dec 11; 18(23):7196. View in: PubMed

Patel PI, 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. View in: PubMed

Ray R, Rincon-Limas D, Wright RA, Davis SN, Lupski JR, Patel PI. Three polymorphisms at the D17S29 locus. Nucleic Acids Res. 1990 Aug 25; 18(16):4958. View in: PubMed

Patel PI, 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. View in: PubMed

Patel PI, 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. View in: PubMed

Yang TP, Stout JT, Konecki DS, Patel PI, 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. View in: PubMed

Patel PI, Framson PE, Caskey CT, Chinault AC. Fine structure of the human hypoxanthine phosphoribosyltransferase gene. Mol Cell Biol. 1986 Feb; 6(2):393-403. View in: PubMed

Chang SM, Tsao TY, Patel PI, Chinault AC, Melton DW, Caskey CT. Expression of human and mouse HPRT minigenes. Adv Exp Med Biol. 1986; 195 Pt A:231-6. View in: PubMed

Patel PI, 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. View in: PubMed

Patel PI, 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. View in: PubMed

Yang TP, Patel PI, 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. View in: PubMed

Myers CA, Patel PI, 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. View in: PubMed

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