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A mutation in the canine gene encoding folliculin-interacting protein 2 (FNIP2) associated with a unique disruption in spinal cord myelination.

Pemberton TJ, Choi S, Mayer JA, Li FY, Gokey N, Svaren J, Safra N, Bannasch DL, Sullivan K, Breuhaus B, Patel PI, Duncan ID.

Glia. 2014 Jan;62(1):39-51. doi: 10.1002/glia.22582.


Whither hope for pharmacological treatment of Charcot-Marie-Tooth disease type 1A?

Patel PI, Pleasure D.

JAMA Neurol. 2013 Aug;70(8):969-71. doi: 10.1001/jamaneurol.2013.3285. No abstract available.


Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

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.

Hum Mol Genet. 2013 Mar 1;22(5):1026-38. doi: 10.1093/hmg/dds507. Epub 2012 Dec 5.


The chicken frizzle feather is due to an α-keratin (KRT75) mutation that causes a defective rachis.

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.

PLoS Genet. 2012;8(7):e1002748. doi: 10.1371/journal.pgen.1002748. Epub 2012 Jul 19.


Impact of restricted marital practices on genetic variation in an endogamous Gujarati group.

Pemberton TJ, Li FY, Hanson EK, Mehta NU, Choi S, Ballantyne J, Belmont JW, Rosenberg NA, Tyler-Smith C, Patel PI.

Am J Phys Anthropol. 2012 Sep;149(1):92-103. doi: 10.1002/ajpa.22101. Epub 2012 Jun 23.


X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.

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.

Am J Hum Genet. 2011 Jun 10;88(6):819-26. doi: 10.1016/j.ajhg.2011.05.004.


A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.

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.

Clin Genet. 2011 Sep;80(3):265-72. doi: 10.1111/j.1399-0004.2010.01529.x. Epub 2010 Sep 8.


Tooth dimensions in hypodontia with a known PAX9 mutation.

Brook AH, Elcock C, Aggarwal M, Lath DL, Russell JM, Patel PI, Smith RN.

Arch Oral Biol. 2009 Dec;54 Suppl 1:S57-62. doi: 10.1016/j.archoralbio.2008.05.017. Epub 2008 Jul 23.


Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in India.

Pemberton TJ, Jakobsson M, Conrad DF, Coop G, Wall JD, Pritchard JK, Patel PI, Rosenberg NA.

Ann Hum Genet. 2008 Jul;72(Pt 4):535-46. doi: 10.1111/j.1469-1809.2008.00457.x. Epub 2007 May 30.


Prevalence of common disease-associated variants in Asian Indians.

Pemberton TJ, Mehta NU, Witonsky D, Di Rienzo A, Allayee H, Conti DV, Patel PI.

BMC Genet. 2008 Feb 4;9:13. doi: 10.1186/1471-2156-9-13.


Safe, cost-effective pain control using a continuous local anesthetic infusion pump after an abdominoplasty.

Patel PI, Patel MJ, O'Toole M, Vanderlaan T.

Plast Reconstr Surg. 2008 Jan;121(1):355-6. doi: 10.1097/01.prs.0000300343.34993.40. No abstract available.


Inherited dental anomalies: a review and prospects for the future role of clinicians.

Pemberton TJ, Mendoza G, Gee J, Patel PI.

J Calif Dent Assoc. 2007 May;35(5):324-6, 328-33. Review.


Identification of novel genes expressed during mouse tooth development by microarray gene expression analysis.

Pemberton TJ, Li FY, Oka S, Mendoza-Fandino GA, Hsu YH, Bringas P Jr, Chai Y, Snead ML, Mehrian-Shai R, Patel PI.

Dev Dyn. 2007 Aug;236(8):2245-57.


Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH.

Clin Genet. 2007 Jun;71(6):540-50.


A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.

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.

Am J Med Genet A. 2007 Feb 15;143(4):390-4. No abstract available.


A simple method for DNA isolation from clotted blood extricated rapidly from serum separator tubes.

Se Fum Wong S, Kuei JJ, Prasad N, Agonafer E, Mendoza GA, Pemberton TJ, Patel PI.

Clin Chem. 2007 Mar;53(3):522-4. Epub 2007 Jan 18.


Low levels of genetic divergence across geographically and linguistically diverse populations from India.

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.

PLoS Genet. 2006 Dec;2(12):e215.


A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.

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.

Hum Genet. 2007 Jan;120(5):653-62. Epub 2006 Sep 21.


Gene discovery for dental anomalies: a primer for the dental professional.

Pemberton TJ, Gee J, Patel PI.

J Am Dent Assoc. 2006 Jun;137(6):743-52. Review.


Nonconventional genetic risk factors for cardiovascular disease.

Tymchuk CN, Hartiala J, Patel PI, Mehrabian M, Allayee H.

Curr Atheroscler Rep. 2006 May;8(3):184-92. Review.

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