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P I Patel

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Articles 85
Citations 3283
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Recent Articles
1.
Mendoza-Fandino G, Gee J, Ben-Dor S, Gonzalez-Quevedo C, Lee K, Kobayashi Y, et al.
Clin Genet . 2011 Mar; 80(3):265-72. PMID: 21443745
Mutations in the transcription factor PAX9 which plays a critical role in the switching of odontogenic potential from the epithelium to the mesenchyme during tooth development cause autosomal dominant non-syndromic...
2.
Brook A, Elcock C, Aggarwal M, Lath D, Russell J, Patel P, et al.
Arch Oral Biol . 2008 Jul; 54 Suppl 1:S57-62. PMID: 18653171
Aim: Congenital absence of teeth is a complex condition affecting several parameters of oral development. This is the first study to measure tooth crown dimensions using image analysis in a...
3.
Pemberton T, Jakobsson M, Conrad D, Coop G, Wall J, Pritchard J, et al.
Ann Hum Genet . 2008 Jun; 72(Pt 4):535-46. PMID: 18513279
When performing association studies in populations that have not been the focus of large-scale investigations of haplotype variation, it is often helpful to rely on genomic databases in other populations...
4.
Edelman E, Girirajan S, Finucane B, Patel P, Lupski J, Smith A, et al.
Clin Genet . 2007 Jun; 71(6):540-50. PMID: 17539903
Smith-Magenis syndrome (SMS) is a multisystem disorder characterized by developmental delay and mental retardation, a distinctive behavioral phenotype, and sleep disturbance. We undertook a comprehensive meta-analysis to identify genotype-phenotype relationships...
5.
LUCAS R, Vlangos C, Das P, Patel P, Elsea S
Eur J Hum Genet . 2002 Feb; 9(12):892-902. PMID: 11840190
Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with an interstitial deletion of chromosome 17 involving band p11.2. SMS is hypothesised to be a contiguous gene syndrome...
6.
Hai M, Bidichandani S, Hogan M, Patel P
Antisense Nucleic Acid Drug Dev . 2001 Sep; 11(4):233-46. PMID: 11572600
Overexpression of the 22-kDa peripheral myelin protein (PMP22) causes the inherited peripheral neuropathy, Charcot-Marie-Tooth disease type 1A (CMT1A). In an attempt to alter PMP22 gene expression as a possible therapeutic...
7.
Hai M, Bidichandani S, Patel P
J Neurosci Res . 2001 Sep; 65(6):508-19. PMID: 11550219
Over- and under expression of the 22 kDa peripheral myelin protein (PMP22) results in dysmyelinating peripheral neuropathies, such as Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy, with the liability...
8.
Patel P, Isaya G
Am J Hum Genet . 2001 Jun; 69(1):15-24. PMID: 11391483
No abstract available.
9.
Patel P
Br Dent J . 2001 Apr; 190(6):283. PMID: 11325152
No abstract available.
10.
Cavadini P, Gellera C, Patel P, Isaya G
Hum Mol Genet . 2000 Oct; 9(17):2523-30. PMID: 11030757
Frataxin is a nuclear-encoded mitochondrial protein widely conserved among eukaryotes. Human frataxin (fxn) is severely reduced in Friedreich ataxia (FRDA), a frequent autosomal recessive neuro- and cardio-degenerative disease. Whereas the...