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P I Patel

Explore the profile of P I Patel including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 85
Citations 3283
Followers 0
Related Specialties
Genetics
Molecular Biology
Cell Biology
Top 10 Co-Authors
J R Lupski
S H Elsea
F GREENBERG
S I Bidichandani
R C Juyal
L Pentao
C A Garcia
M Pandolfo
C T Caskey
A C Chinault
Published In
Am J Hum Genet
Am J Med Genet
Nat Genet
Hum Mol Genet
Cytogenet Cell Genet
Affiliations
Soon will be listed here.
Recent Articles
11.
Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia
Goldenberg M, Das P, Messersmith M, Stockton D, Patel P, DSouza R
J Dent Res . 2000 Sep; 79(7):1469-75. PMID: 11005730
A frameshift mutation recently identified within the paired domain of the transcription factor, PAX9, has been linked to a unique form of oligodontia in a single, multigenerational family (Stockton et...
12.
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
Vlangos C, Das P, Patel P, Elsea S
Cytogenet Cell Genet . 2000 Jun; 88(3-4):283-5. PMID: 10828610
No abstract available.
13.
Glucocorticosteroids stimulate the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells
Desarnaud F, Bidichandani S, Patel P, Baulieu E, Schumacher M
Brain Res . 2000 May; 865(1):12-6. PMID: 10814728
To better understand the mechanism by which glucocorticosteroids (GLUC) could enhance myelination in the PNS, cultured rat Schwann cells were transiently transfected with reporter constructs in which luciferase expression was...
14.
Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions
Bidichandani S, Garcia C, Patel P, Dimachkie M
Arch Neurol . 2000 Feb; 57(2):246-51. PMID: 10681084
Background: Most patients with Friedreich ataxia (FRDA) have abnormal GAA triplet repeat expansions in both X25 genes. The size of the GAA expansion in the shorter of the 2 expanded...
15.
Mutation of PAX9 is associated with oligodontia
Stockton D, Das P, Goldenberg M, DSouza R, Patel P
Nat Genet . 1999 Dec; 24(1):18-9. PMID: 10615120
No abstract available.
16.
Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome
Elsea S, Mykytyn K, Ferrell K, Coulter K, Das P, Dubiel W, et al.
Am J Med Genet . 1999 Dec; 87(4):342-8. PMID: 10588842
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with an interstitial deletion of chromosome band 17p11.2. The critical region is extremely gene-rich and spans approximately 1.5-2.0 Mb...
17.
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
Bidichandani S, Purandare S, Taylor E, Gumin G, Machkhas H, Harati Y, et al.
Hum Mol Genet . 1999 Nov; 8(13):2425-36. PMID: 10556290
The vast majority of Friedreich ataxia patients are homozygous for large GAA triplet repeat expansions in intron 1 of the X25 gene. Instability of the expanded GAA repeat was examined...
18.
Assignment of beta-centractin (CTRN2) to human chromosome 2 bands q11.1-->q11.2 with somatic cell hybrids and in situ hybridization
Elsea S, Clark I, Juyal R, Meyer D, Meyer D, Patel P
Cytogenet Cell Genet . 1999 May; 84(1-2):48-9. PMID: 10343100
No abstract available.
19.
Assignment of big MAP kinase (PRKM7) to human chromosome 17 band p11.2 with somatic cell hybrids
Purandare S, Lee J, Patel P
Cytogenet Cell Genet . 1999 Mar; 83(3-4):258-9. PMID: 10072598
No abstract available.
20.
Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment
Sun D, McDonnell M, Chen X, Lakkis M, Li H, Isaacs S, et al.
J Biol Chem . 1998 Dec; 273(50):33540-7. PMID: 9837935
Expressed sequence tag information was used to clone the full-length sequence for a new human lipoxygenase from the B cell line CCL-156. A related mouse sequence with 83% nucleotide identity...