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List of works by Pragna I Patel

A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism

scientific article published on 01 March 1998

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

scientific article published on 21 September 2006

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

scientific article published on 01 February 2007

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

scientific article

Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient

scientific article published on 01 November 1995

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.

scientific article

Association between genetic variation at the porphobilinogen deaminase gene and schizophrenia

scientific article published on 01 January 1993

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion

scientific article

Atypical friedreich ataxia with a very late onset and an unusual limited GAA repeat

scientific article published in September 2000

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

article

Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene.

scientific article

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

scientific article published on 01 December 1992

Clinical, Radiographic, and Genetic Evaluation of a Novel Form of Autosomal-dominant Oligodontia

scientific article published on 01 July 2000

Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion

scientific article published on 01 September 1993

Cloning of a human “epidermal-type” 12-lipoxygenase-related gene and chromosomal localization to 17p13 ⬇️

scientific article published on January 1, 1998

Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies.

scientific article published on August 2002

Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene.

scientific article published on August 2001

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

scientific article published on 01 July 1991

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

scientific article published on 5 December 2012

Definition of the critical interval for Smith-Magenis syndrome

scientific article published on 01 January 1997

Detection of tandem duplications and implications for linkage analysis.

scientific article published on June 1994

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

scientific article published on 01 October 1993

Evidence that a gene for essential tremor maps to chromosome 2p in four families

scientific article published on 01 November 1998

Expression of human and mouse HPRT minigenes

scientific article published on 01 January 1986

Familial essential tremor in 4 kindreds. Prospects for genetic mapping

scientific article

Frataxin fracas

scientific article published on 01 April 1997

Functional characterization of the human hypoxanthine phosphoribosyltransferase gene promoter: evidence for a negative regulatory element ⬇️

scientific article published on August 1, 1991

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

scientific article published on June 2007

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

scientific article published on April 1, 1992

Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: Analysis of cell-cycle distribution and radiation sensitivity ⬇️

scientific article published on January 6, 1998

Genes underlying familial hypodontia: a review and discussion of the role of dental hygienists in future research.

scientific article

Genetic basis of inherited peripheral neuropathies.

scientific article

Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis

scientific article (publication date: December 2001)

Glucocorticosteroids stimulate the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells.

scientific article

Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia

scientific article (publication date: April 2002)

Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome

scientific article

Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome

scientific article published on 01 December 1999

Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae.

scientific article

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

scientific article

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

scientific article

Mapping of genes predisposing to idiopathic generalized epilepsy

scientific article published on 01 July 1995

Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24–q27.1 ⬇️

scientific article published on June 1, 1995

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy ⬇️

scientific article published on April 1, 1992

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

scientific article published in May 1996

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

scientific article

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients ⬇️

scientific article published on August 2, 1984

Mutational diversity at the human HPRT locus

scientific article published on 01 January 1986

Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia

scientific article published on 01 April 2003

Prevalence of common disease-associated variants in Asian Indians.

scientific article

Quest for the elusive genetic basis of Tourette syndrome

scientific article published on November 1996

Recombination Hot Spots and Human Disease ⬇️

scientific article published on August 1, 1997

Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters

scientific article published on 01 October 1994

Reply to Boylan.

scientific article published in April 1994

Seeking families with missing teeth

scientific article published on 01 March 2001

Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2 ⬇️

scientific article published on April 28, 1998

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p ⬇️

scientific article published on July 1, 1992

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

scientific article published on 01 December 1999

Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1

scientific article published on 01 January 1993

Subcellular location of a soluble factor that stimulates DNA replication in permeable animal cells

scientific article published on 01 January 1983

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

scientific article

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

scientific article

The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients

scientific article

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

scientific article published on June 1, 1992

Three polymorphisms at the D17S29 locus.

scientific article published on August 1990

Tooth dimensions in hypodontia with a known PAX9 mutation

scientific article published on 23 July 2008

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

scientific article published on 01 February 1994

Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy

scientific article published on 01 August 1998

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

scientific article published on 30 May 2007

Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.

scientific article

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

scientific article published in August 2013

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