Publications by authors named "Preeti Paliwal"

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Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of 300 Indian Patients.
Meena Bajaj Lall, Anju Joshi, Shruti Agarwal, Pushpa Saviour, Preeti Paliwal

Indian J Pediatr· January 2026

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Revisiting Utility of Fetal Autopsy in Genomic Era.
Seema Thakur, Chanchal Singh, Preeti Paliwal, Vrunda Appannagri, N Mohit

Fetal Pediatr Pathol· November 2024

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Bright and enlarged fetal kidneys: One phenotype different genotypes, and counseling dilemmas.
Preeti Paliwal, Seema Thakur, Shreyasi Sharma

J Clin Ultrasound· November 2024

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In vitro treatment with liposome-encapsulated Mannose-1-phosphate restores N-glycosylation in PMM2-CDG patient-derived fibroblasts.
Teppei Shirakura, Lakshmipriya Krishnamoorthy, Preeti Paliwal, Geoffrey Hird, Kerryn McCluskie

Mol Genet Metab· October 2024

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Phosphofurin Acidic Cluster Sorting Protein 1 Syndrome: Insights Gained on the Multisystem Involvement Reviewing Encoded Protein Interactions?
Seema Thakur, Preeti Paliwal, Rajni Farmania, Vipin Khandelwal, Vivek Garg

J Pediatr Genet· September 2024

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Aficamten is a small-molecule cardiac myosin inhibitor designed to treat hypertrophic cardiomyopathy.
James J Hartman, Darren T Hwee, Julien Robert-Paganin, Chihyuan Chuang, Eva R Chin, Preeti Paliwal

Nat Cardiovasc Res· August 2024

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A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia.
Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Preeti Paliwal

Case Rep Genet· October 2023

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Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience.
Meena Bajaj Lall, Shruti Agarwal, Preeti Paliwal, Pushpa Saviour, Anju Joshi

J Obstet Gynaecol India· April 2021

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Severe Polyhydramnios with Consistent Fetal Full Bladder: A Novel Sign of Antenatal Bartter's Disease.
Seema Thakur, Manisha Kumar, Supriya Malhotra, Preeti Paliwal, Vandana Thareja

J Pediatr Genet· December 2020

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Genetic Testing in Pediatric Ophthalmology.
Ishwar Chander Verma, Preeti Paliwal, Kanika Singh

Indian J Pediatr· March 2018

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Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern India.
Ranjan Gupta, Babu Lal Kumawat, Preeti Paliwal, Radhika Tandon, Namrata Sharma

Mol Vis· June 2016

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Prospective Case-Control Study to Evaluate the Role of Glutathione S Transferases (GSTT1 and GSTM1) Gene Deletion in Breast Carcinoma and Its Prognostic Significance.
Virinder Kumar Bansal, Karthik Rajan, Arundhati Sharma, Preeti Paliwal, Gaurav Chaubal

Indian J Surg· December 2015

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Systemic attenuation of the TGF-β pathway by a single drug simultaneously rejuvenates hippocampal neurogenesis and myogenesis in the same old mammal.
Hanadie Yousef, Michael J Conboy, Adam Morgenthaler, Christina Schlesinger, Lukasz Bugaj, Preeti Paliwal

Oncotarget· May 2015

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Molecular genetic analysis of macular corneal dystrophy patients from North India.
Preeti Paliwal, Arundhati Sharma, Radhika Tandon, Namrata Sharma, Jeevan S Titiyal

Ophthalmic Res· September 2012

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Age dependent increase in the levels of osteopontin inhibits skeletal muscle regeneration.
Preeti Paliwal, Novalia Pishesha, Denny Wijaya, Irina M Conboy

Aging (Albany NY)· August 2012

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A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation.
Preeti Paliwal, Jaya Gupta, Radhika Tandon, Seema Kashyap, Seema Sen

Ophthalmic Res· November 2011

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Inhibitors of tyrosine phosphatases and apoptosis reprogram lineage-marked differentiated muscle to myogenic progenitor cells.
Preeti Paliwal, Irina M Conboy

Chem Biol· September 2011

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Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.
Preeti Paliwal, Anshul Sharma, Shweta Birla, Alka Kriplani, Rajesh Khadgawat

Mol Hum Reprod· June 2011

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Familial segregation of a VSX1 mutation adds a new dimension to its role in the causation of keratoconus.
Preeti Paliwal, Radhika Tandon, Divya Dube, Punit Kaur, Arundhati Sharma

Mol Vis· February 2011

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Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.
Preeti Paliwal, Arundhati Sharma, Radhika Tandon, Namrata Sharma, Jeewan S Titiyal

Mol Vis· December 2010

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TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.
Preeti Paliwal, Arundhati Sharma, Radhika Tandon, Namrata Sharma, Jeewan S Titiyal

Mol Vis· July 2010

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An unusual association of hypospadias with partial deletion of chromosome 1q.
Preeti Paliwal, Arundhati Sharma, Jayaprakash Sahoo, Ariachery Chinamma Ammini

Fertil Steril· May 2010

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Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.
Preeti Paliwal, Jaya Gupta, Radhika Tandon, Namrata Sharma, Jeewan S Titiyal

Mol Vis· April 2010

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Spinal myxopapillary ependymoma with Down syndrome: exploring an unusual association.
Ahitagni Biswas, Tarun Puri, Shikha Goyal, Sushil Kumar, Arundhati Sharma, Preeti Paliwal

J Pediatr Hematol Oncol· January 2010

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A novel VSX1 mutation identified in an individual with keratoconus in India.
Preeti Paliwal, Anuradha Singh, Radhika Tandon, Jeevan S Titiyal, Arundhati Sharma

Mol Vis· November 2009

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