Pragna I. Patel - Concepedia

Author

Pragna I. Patel

Baylor College of Medicine ORCID

Also Known As

Dirk Deleu, Li Jin, P I Patel, P PATEL, P Patel, P. I. Patel, P. Patel, P.I. Patel, PI Patel, Param Patel

150

Publications

12.9K

Citations

H-Index

Concepts

All Affiliations

Baylor College of Medicine Baylor Genetics University of Southern California Howard Hughes Medical Institute

About

Pragna I. Patel is an author at Baylor College of Medicine specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	30	44	6K
2	Natural Sciences	9	9	1.2K
3	Biochemistry	5	5	308
4	Public Health	2	2	176
5	Health Sciences	1	1	50

Pragna I. Patel

Publications

11.9K

Citations

H-Index

Page 1

	Year	Citations
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion Victoria Campuzano, Laura Montermini, María Dolores Moltó, Science	1996	2.7K
DNA duplication associated with Charcot-Marie-Tooth disease type 1A James R. Lupski, Roberto Montes‐de‐Oca‐Luna, Susan Slaugenhaupt, Cell Mendelian DisorderGenetic DisorderGeneticsDna DuplicationPathology	1991	1.3K
Mutation of PAX9 is associated with oligodontia David W. Stockton, Parimal Das, Monica Goldenberg, Nature Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsMolecular Biology	2000	524
The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A Pragna I. Patel, R Schoener-Scott, Pentao Liu, Nature Genetics Molecular NeuroscienceGeneticsExperimental NeuropathologyPathologyCharcot–marie–tooth Disease	1992	493
Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit Pentao Liu, Carol A. Wise, A. Craig Chinault, Nature Genetics BiologyMb Monomer UnitNatural SciencesGeneticsMolecular Biology	1992	388
The GAA Triplet-Repeat Expansion in Friedreich Ataxia Interferes with Transcription and May Be Associated with an Unusual DNA Structure Sanjay I. Bidichandani, Tetsuo Ashizawa, Pragna I. Patel The American Journal of Human Genetics Genome InstabilityUnusual Dna StructureGenetic DisorderMedicineGenetics	1998	378
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Frank Greenberg, Guzzetta, Montes de Oca-Luna R, PubMed	1991	348
Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene Benjamin B. Roa, Carlos A. Garcia, Ueli Suter, New England Journal of Medicine	1993	331
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17 Phillip F. Chance, Nacer Abbas, M. William Lensch, Human Molecular Genetics	1994	311
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A James R. Lupski, Carol A. Wise, Akira Kuwano, Nature Genetics Gene DosageDisease MechanismGenetic DisorderGeneticsPathogenesis	1992	290

Page 1