Pragna I Patel, Ph.D., M.Ed. - Publications

1982-2004 Baylor College of Medicine, Houston, TX 
 2004- University of Southern California Keck School of Medicine 
Genetics of inherited diseases; population genetics of Asian Indians

93 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 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, et al. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Human Molecular Genetics. PMID 32016392 DOI: 10.1093/hmg/ddz307  0.52
2019 Rohner E, Bütikofer L, Schmidlin K, Sengayi M, Maskew M, Giddy J, Taghavi K, Moore RD, Goedert JJ, Gill MJ, Silverberg MJ, D'Souza G, Patel P, Castilho JL, Ross J, et al. Cervical cancer risk in women living with HIV across four continents: A multicohort study. International Journal of Cancer. PMID 31215037 DOI: 10.1002/Ijc.32260  0.32
2019 Hernández-Ramírez RU, Qin L, Lin H, Leyden W, Neugebauer RS, Althoff KN, Hessol NA, Achenbach CJ, Brooks JT, Gill MJ, Grover S, Horberg MA, Li J, Mathews WC, Mayor AM, ... Patel P, et al. Association of immunosuppression and HIV viremia with anal cancer risk in persons living with HIV in the United States and Canada. Clinical Infectious Diseases : An Official Publication of the Infectious Diseases Society of America. PMID 31044245 DOI: 10.1093/Cid/Ciz329  0.32
2019 Althoff KN, Gebo KA, Moore RD, Boyd CM, Justice AC, Wong C, Lucas GM, Klein MB, Kitahata MM, Crane H, Silverberg MJ, Gill MJ, Mathews WC, Dubrow R, Horberg MA, ... ... Patel P, et al. Contributions of traditional and HIV-related risk factors on non-AIDS-defining cancer, myocardial infarction, and end-stage liver and renal diseases in adults with HIV in the USA and Canada: a collaboration of cohort studies. The Lancet. Hiv. PMID 30683625 DOI: 10.1016/S2352-3018(18)30295-9  0.32
2017 Wong C, Gange SJ, Moore RD, Justice AC, Buchacz K, Abraham AG, Rebeiro PF, Koethe JR, Martin JN, Horberg MA, Boyd CM, Kitahata MM, Crane HM, Gebo KA, Gill MJ, ... ... Patel P, et al. Multimorbidity Among Persons Living with HIV in the U.S. Clinical Infectious Diseases : An Official Publication of the Infectious Diseases Society of America. PMID 29149237 DOI: 10.1093/Cid/Cix998  0.32
2017 Wong C, Gange SJ, Buchacz K, Moore RD, Justice AC, Horberg MA, Gill MJ, Koethe JR, Rebeiro PF, Silverberg MJ, Palella FJ, Patel P, Kitahata MM, Crane HM, Abraham AG, et al. First Occurrence of Diabetes, Chronic Kidney Disease, and Hypertension Among North American HIV-Infected Adults, 2000-2013. Clinical Infectious Diseases : An Official Publication of the Infectious Diseases Society of America. 64: 459-467. PMID 28172581 DOI: 10.1093/Cid/Ciw804  0.32
2016 Buchacz K, Lau B, Jing Y, Bosch R, Abraham AG, Gill MJ, Silverberg MJ, Goedert JJ, Sterling TR, Althoff KN, Martin JN, Burkholder G, Gandhi N, Samji H, Patel P, et al. Incidence of AIDS-Defining Opportunistic Infections in a Multicohort Analysis of HIV-infected Persons in the United States and Canada, 2000-2010. The Journal of Infectious Diseases. 214: 862-72. PMID 27559122 DOI: 10.1093/Infdis/Jiw085  0.32
2015 Silverberg MJ, Lau B, Achenbach CJ, Jing Y, Althoff KN, D'Souza G, Engels EA, Hessol NA, Brooks JT, Burchell AN, Gill MJ, Goedert JJ, Hogg R, Horberg MA, Kirk GD, ... ... Patel P, et al. Cumulative Incidence of Cancer Among Persons With HIV in North America: A Cohort Study. Annals of Internal Medicine. 163: 507-18. PMID 26436616 DOI: 10.7326/M14-2768  0.32
2014 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. 62: 39-51. PMID 24272703 DOI: 10.1002/Glia.22582  0.56
2013 Hanna DB, Buchacz K, Gebo KA, Hessol NA, Horberg MA, Jacobson LP, Kirk GD, Kitahata MM, Korthuis PT, Moore RD, Napravnik S, Patel P, Silverberg MJ, Sterling TR, Willig JH, et al. Association between U.S. state AIDS Drug Assistance Program (ADAP) features and HIV antiretroviral therapy initiation, 2001-2009. Plos One. 8: e78952. PMID 24260137 DOI: 10.1371/Journal.Pone.0078952  0.32
2013 Lucas GM, Jing Y, Sulkowski M, Abraham AG, Estrella MM, Atta MG, Fine DM, Klein MB, Silverberg MJ, Gill MJ, Moore RD, Gebo KA, Sterling TR, Butt AA. Hepatitis C viremia and the risk of chronic kidney disease in HIV-infected individuals. The Journal of Infectious Diseases. 208: 1240-9. PMID 23904290 DOI: 10.1093/Infdis/Jit373  0.32
2013 Hanna DB, Buchacz K, Gebo KA, Hessol NA, Horberg MA, Jacobson LP, Kirk GD, Kitahata MM, Korthuis PT, Moore RD, Napravnik S, Patel P, Silverberg MJ, Sterling TR, Willig JH, et al. Trends and disparities in antiretroviral therapy initiation and virologic suppression among newly treatment-eligible HIV-infected individuals in North America, 2001-2009. Clinical Infectious Diseases : An Official Publication of the Infectious Diseases Society of America. 56: 1174-82. PMID 23315317 DOI: 10.1093/Cid/Cit003  0.32
2013 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, et al. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Human Molecular Genetics. 22: 1026-38. PMID 23221805 DOI: 10.1093/Hmg/Dds507  0.52
2012 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, et al. The chicken frizzle feather is due to an α-keratin (KRT75) mutation that causes a defective rachis. Plos Genetics. 8: e1002748. PMID 22829773 DOI: 10.1371/Journal.Pgen.1002748  0.56
2012 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. American Journal of Physical Anthropology. 149: 92-103. PMID 22729696 DOI: 10.1002/Ajpa.22101  0.56
2011 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, et al. X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3. American Journal of Human Genetics. 88: 819-26. PMID 21636067 DOI: 10.1016/J.Ajhg.2011.05.004  0.56
2011 Mendoza-Fandino GA, Gee JM, Ben-Dor S, Gonzalez-Quevedo C, Lee K, Kobayashi Y, Hartiala J, Myers RM, Leal SM, Allayee H, Patel PI. A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia. Clinical Genetics. 80: 265-72. PMID 21443745 DOI: 10.1111/J.1399-0004.2010.01529.X  0.48
2009 Brook AH, Elcock C, Aggarwal M, Lath DL, Russell JM, Patel PI, Smith RN. Tooth dimensions in hypodontia with a known PAX9 mutation. Archives of Oral Biology. 54: S57-62. PMID 18653171 DOI: 10.1016/J.Archoralbio.2008.05.017  0.4
2008 Pemberton TJ, Jakobsson M, Conrad DF, Coop G, Wall JD, Pritchard JK, Patel PI, Rosenberg NA. Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in India. Annals of Human Genetics. 72: 535-46. PMID 18513279 DOI: 10.1111/J.1469-1809.2008.00457.X  0.56
2008 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 Genetics. 9: 13. PMID 18248681 DOI: 10.1186/1471-2156-9-13  0.56
2007 Pemberton TJ, Mendoza G, Gee J, Patel PI. Inherited dental anomalies: a review and prospects for the future role of clinicians. Journal of the California Dental Association. 35: 324-6, 328-33. PMID 17822158  0.64
2007 Pemberton TJ, Li FY, Oka S, Mendoza-Fandino GA, Hsu YA, 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 Developmental Dynamics. 236: 2245-2257. PMID 17626284 DOI: 10.1002/Dvdy.21226  0.56
2007 Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH. Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clinical Genetics. 71: 540-50. PMID 17539903 DOI: 10.1111/J.1399-0004.2007.00815.X  0.56
2007 Tarpey P, Pemberton TJ, Stockton DW, Das P, Ninis V, Edkins S, Futreal PA, Wooster R, Kamath S, Nayak R, Stratton MR, Patel PI. A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. American Journal of Medical Genetics Part A. 143: 390-394. PMID 17256800 DOI: 10.1002/Ajmg.A.31567  0.64
2007 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. Clinical Chemistry. 53: 522-4. PMID 17234731 DOI: 10.1373/Clinchem.2006.078212  0.64
2007 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. Human Genetics. 120: 653-62. PMID 17024372 DOI: 10.1007/S00439-006-0246-6  0.56
2006 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 Genetics. 2: e215. PMID 17194221 DOI: 10.1371/Journal.Pgen.0020215  0.56
2006 Pemberton TJ, Gee J, Patel PI. Gene discovery for dental anomalies Journal of the American Dental Association. 137: 743-752. PMID 16803803 DOI: 10.14219/Jada.Archive.2006.0286  0.64
2006 Tymchuk CN, Hartiala J, Patel PI, Mehrabian M, Allayee H. Nonconventional genetic risk factors for cardiovascular disease. Current Atherosclerosis Reports. 8: 184-92. PMID 16640955 DOI: 10.1007/s11883-006-0072-2  0.56
2003 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. American Journal of Human Genetics. 73: 1302-15. PMID 14639526 DOI: 10.1086/379979  0.4
2003 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. American Journal of Medical Genetics Part A. 118: 35-42. PMID 12605438 DOI: 10.1002/Ajmg.A.10011  0.52
2002 Hai M, Muja N, DeVries GH, Quarles RH, Patel PI. Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies. Journal of Neuroscience Research. 69: 497-508. PMID 12210843 DOI: 10.1002/Jnr.10327  0.56
2002 Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright T, Patel PI. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Human Genetics. 110: 371-6. PMID 11941488 DOI: 10.1007/S00439-002-0699-1  0.52
2001 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. European Journal of Human Genetics : Ejhg. 9: 892-902. PMID 11840190 DOI: 10.1038/Sj.Ejhg.5200734  0.56
2001 Hai M, Bidichandani SI, Patel PI. Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene. Journal of Neuroscience Research. 65: 508-19. PMID 11550219 DOI: 10.1002/Jnr.1181  0.64
2001 Patel PI, Isaya G. Friedreich ataxia: From GAA triplet-repeat expansion to frataxin deficiency American Journal of Human Genetics. 69: 15-24. PMID 11391483 DOI: 10.1086/321283  0.56
2000 Cavadini P, Gellera C, Patel PI, Isaya G. Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae Human Molecular Genetics. 9: 2523-2530. PMID 11030757 DOI: 10.1093/Hmg/9.17.2523  0.56
2000 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 Journal of Dental Research. 79: 1469-1475. PMID 11005730 DOI: 10.1177/00220345000790070701  0.52
2000 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. Cytogenetics and Cell Genetics. 88: 283-5. PMID 10828610 DOI: 10.1159/000015539  0.76
2000 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. Human Molecular Genetics. 8: 2425-36. PMID 10556290 DOI: 10.1093/Hmg/8.13.2425  0.6
1999 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 American Journal of Medical Genetics. 87: 342-348. PMID 10588842 DOI: 10.1002/(Sici)1096-8628(19991203)87:4<342::Aid-Ajmg12>3.0.Co;2-A  0.56
1999 Elsea SH, Clark IB, Juyal RC, Meyer DJ, Meyer DI, Patel PI. Assignment of β-centractin (CTRN2) to human chromosome 2 bands q11.1→q11.2 with somatic cell hybrids and in situ hybridization Cytogenetics and Cell Genetics. 84: 48-49. PMID 10343100 DOI: 10.1159/000015211  0.56
1998 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. 51: 493-498. PMID 9710024 DOI: 10.1212/Wnl.51.2.493  0.36
1998 Sun D, Elsea SH, Patel PI, Funk CD. Cloning of a human "epidermal-type" 12-lipoxygenase-related gene and chromosomal localization to 17p13. Cytogenetics and Cell Genetics. 81: 79-82. PMID 9691181 DOI: 10.1159/000014993  0.32
1998 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. 21: 390-3. PMID 9486868 DOI: 10.1002/(Sici)1097-4598(199803)21:3<390::Aid-Mus13>3.0.Co;2-3  0.68
1998 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. American Journal of Medical Genetics. 75: 104-8. PMID 9450867 DOI: 10.1002/(Sici)1096-8628(19980106)75:1<104::Aid-Ajmg21>3.0.Co;2-P  0.52
1998 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. American Journal of Human Genetics. 62: 111-21. PMID 9443873 DOI: 10.1086/301680  0.4
1998 Bidichandani SI, Baldini A, Patel PI. Reply to Callen The American Journal of Human Genetics. 63: 270. DOI: 10.1086/301938  0.4
1997 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. Cytogenetics and Cell Genetics. 79: 276-81. PMID 9605871 DOI: 10.1159/000134742  0.92
1997 Purandare SM, Patel PI. Recombination Hot Spots and Human Disease Genome Research. 7: 773-786. PMID 9267802 DOI: 10.1101/Gr.7.8.773  0.92
1997 Jankovic J, Beach J, Pandolfo M, Patel PI. Familial Essential Tremor in 4 Kindreds: Prospects for Genetic Mapping Jama Neurology. 54: 289-294. PMID 9074398 DOI: 10.1001/Archneur.1997.00550150047015  0.36
1996 Juyal RC, Kuwano A, Kondo I, Zara F, Baldini A, Patel PI. Mosaicism for del(17) (p11.2p11.2) underlying the Smith-Magenis syndrome American Journal of Medical Genetics. 66: 193-196. PMID 8958329 DOI: 10.1002/(Sici)1096-8628(19961211)66:2<193::Aid-Ajmg13>3.0.Co;2-O  0.6
1996 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 American Journal of Medical Genetics - Seminars in Medical Genetics. 67: 505-514. PMID 8950407 DOI: 10.1002/(Sici)1096-8628(19961122)67:6<505::Aid-Ajmg1>3.0.Co;2-G  0.56
1996 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. Human Genetics. 98: 710-8. PMID 8931707 DOI: 10.1007/S004390050291  0.56
1996 Jiralerspong S, Patel PI. Regulation of the hypoxanthine phosphoribosyltransferase gene: in vitro and in vivo approaches. Proceedings of the Society For Experimental Biology and Medicine. Society For Experimental Biology and Medicine (New York, N.Y.). 212: 116-27. PMID 8650248 DOI: 10.3181/00379727-212-43998  0.56
1996 Johnson LT, Patel PI. Lesch-Nyhan syndrome: An overview of pharmacologic and molecular genetic aspects Mental Retardation and Developmental Disabilities Research Reviews. 2: 147-154. DOI: 10.1002/(SICI)1098-2779(1996)2:3<147::AID-MRDD5>3.0.CO;2-P  0.32
1995 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. American Journal of Medical Genetics. 59: 406-407. PMID 8599375 DOI: 10.1002/Ajmg.1320590332  0.6
1995 Juyal RC, Greenberg F, Mengden GA, Lupski JR, Trask BJ, van den Engh G, Lindsay EA, Christy H, Chen KS, Baldini A. Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization. American Journal of Medical Genetics. 58: 286-91. PMID 8533833 DOI: 10.1002/Ajmg.1320580317  0.56
1995 Zara F, Bianchi A, Avanzini G, Donato Sd, Castellotti B, Patel PI, Pandolfo M. Mapping of genes predisposing to idiopathic generalized epilepsy Human Molecular Genetics. 4: 1201-1207. PMID 8528209 DOI: 10.1093/Hmg/4.7.1201  0.36
1995 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 Molecular and Cellular Biology. 15: 6561-6571. PMID 8524221 DOI: 10.1128/Mcb.15.12.6561  0.48
1995 Figuera LE, Pandolfo M, Dunne PW, Cantú JM, Patel PI. Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1 Nature Genetics. 10: 202-207. PMID 7663516 DOI: 10.1038/Ng0695-202  0.36
1995 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. Human Molecular Genetics. 4: 589-97. PMID 7633408 DOI: 10.1093/Hmg/4.4.589  0.56
1994 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 Human Molecular Genetics. 3: 223-228. PMID 8004087 DOI: 10.1093/Hmg/3.2.223  0.4
1994 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. The Journal of Biological Chemistry. 269: 25795-808. PMID 7929285  0.56
1994 Rincon-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 Journal of Neuroscience Research. 38: 259-267. PMID 7523686 DOI: 10.1002/Jnr.490380304  0.56
1994 Patel PI, Lupski JR. Charcot-Marie-tooth disease: a new paradigm for the mechanism of inherited disease Trends in Genetics. 10: 128-133. PMID 7518101 DOI: 10.1016/0168-9525(94)90214-3  0.4
1993 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. The New England Journal of Medicine. 329: 96-101. PMID 8510709 DOI: 10.1007/Bf00866335  0.56
1993 Patel PI. Identification of disease genes and somatic gene therapy: An overview and prospects for the aged Journals of Gerontology. 48. PMID 8482809 DOI: 10.1093/Geronj/48.3.B80  0.56
1993 Lupski JR, Pentao L, Williams LL, Patel PI. Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. American Journal of Medical Genetics. 45: 92-96. PMID 8418668 DOI: 10.1002/Ajmg.1320450122  0.4
1993 Patel PI. Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene Current Opinion in Genetics and Development. 3: 438-444. PMID 8353419 DOI: 10.1016/0959-437X(93)90118-9  0.56
1993 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. American Journal of Medical Genetics. 47: 504-11. PMID 8256814 DOI: 10.1002/Ajmg.1320470414  0.56
1993 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. Nature Genetics. 5: 189-94. PMID 8252046 DOI: 10.1038/Ng1093-189  0.56
1993 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. Schizophrenia Research. 8: 211-221. PMID 8094629 DOI: 10.1016/0920-9964(93)90019-F  0.56
1992 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. 13: 551-9. PMID 1639385 DOI: 10.1016/0888-7543(92)90124-B  0.56
1992 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 Nature Genetics. 2: 292-300. PMID 1303282 DOI: 10.1038/Ng1292-292  0.56
1992 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. Nature Genetics. 1: 159-65. PMID 1303228 DOI: 10.1038/Ng0692-159  0.56
1992 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 Nature Genetics. 1: 29-33. PMID 1301995 DOI: 10.1038/Ng0492-29  0.56
1991 Guzzetta V, Oca-Luna RMd, Lupski JR, Patel PI. Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction. Genomics. 9: 31-36. PMID 2004767 DOI: 10.1016/0888-7543(91)90217-3  0.4
1991 Rincón-Limas DE, Krueger DA, Patel PI. Functional characterization of the human hypoxanthine phosphoribosyltransferase gene promoter: evidence for a negative regulatory element. Molecular and Cellular Biology. 11: 4157-64. PMID 1712904 DOI: 10.1128/Mcb.11.8.4157  0.56
1991 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). Human Genetics. 87: 269-77. PMID 1677922 DOI: 10.1007/Bf00200903  0.56
1991 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. 66: 219-32. PMID 1677316 DOI: 10.1016/0092-8674(91)90613-4  0.56
1991 Franco B, Rincon-Limas D, Nakamura Y, Patel PI, Lupski JR. An Mspl RFLP at the D17S258 locus Nucleic Acids Research. 19: 1980-1980. DOI: 10.1093/Nar/19.8.1980  0.48
1990 Ray R, Rincon-Limas D, Wright RA, Davis SN, Lupski JR, Patel PI. Three polymorphisms at the D17S29 locus. Nucleic Acids Research. 18: 4958-4958. PMID 1975670 DOI: 10.1093/Nar/18.16.4958  0.48
1990 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 Research. 18: 1087-1087. PMID 1969146 DOI: 10.1093/Nar/18.4.1087  0.52
1990 Franco B, Rincon-Limas D, Nakamura Y, Patel PI, Lupski RL. Two Mspl RFLPs at the D17S258 locus Nucleic Acids Research. 18: 7196-7196. PMID 1702207 DOI: 10.1093/Nar/18.23.7196-A  0.48
1988 Yang TP, Stout JT, Konecki DS, Patel PI, Alford RL, Caskey CT. Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement. Somatic Cell and Molecular Genetics. 14: 293-303. PMID 2835825  0.52
1986 Patel PI, Framson PE, Caskey CT, Chinault AC. Fine structure of the human hypoxanthine phosphoribosyltransferase gene. Molecular and Cellular Biology. 6: 393-403. PMID 3023844 DOI: 10.1128/Mcb.6.2.393  0.52
1985 Patel PI, Caskey CT. HPRT and the Lesch?Nyhan syndrome Bioessays. 2: 4-8. DOI: 10.1002/BIES.950020103  0.56
1984 Yen PH, Patel P, Chinault AC, Mohandas T, Shapiro LJ. Differential methylation of hypoxanthine phosphoribosyltransferase genes on active and inactive human X chromosomes Proceedings of the National Academy of Sciences of the United States of America. 81: 1759-1763. PMID 6324214 DOI: 10.1073/Pnas.81.6.1759  0.56
1984 Patel PI, Nussbaum RL, gramson PE, Ledbetter DH, Caskey CT, Chinault AC. Organization of the HPRT gene and related sequences in the human genome. Somatic Cell and Molecular Genetics. 10: 483-93. PMID 6089358 DOI: 10.1007/Bf01534853  0.52
1984 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. 310: 412-4. PMID 6087154 DOI: 10.1038/310412A0  0.56
1983 Myers CA, Patel PI, Miller MR. Subcellular location of a soluble factor that stimulates DNA replication in permeable animal cells Experimental Cell Research. 143: 227-236. PMID 6825720 DOI: 10.1016/0014-4827(83)90123-4  0.56
1983 Patel P, Myers CA, Miller MR. Identification of mammalian DNA repair factors using a reconstituted subcellular system. Partial characterization and subcellular location of a DNA repair-stimulating protein in hamster cells Experimental Cell Research. 149: 347-358. PMID 6641806 DOI: 10.1016/0014-4827(83)90348-8  0.56
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