Search Results - "Chander Verma, Ishwar"

Variability in CYP2C9 allele frequency: A pilot study of its predicted impact on warfarin response among healthy South and North Indians by Nahar, Risha, Deb, Roumi, Saxena, Renu, Puri, Ratna Dua, Verma, Ishwar Chander

“…Wide variability exists in the frequency of pharmacogenetic markers for anticoagulant response in different populations. There is insufficient data on the…”
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Genetic Testing in Pediatric Kidney Disease by Arora, Veronica, Anand, Kanav, Chander Verma, Ishwar

“…The advent of next gene sequencing technology has led to the publication of a profusion of papers on monogenic contributions to pediatric kidney disorders. It…”
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COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum by Mishra, Ranjana, Kulshreshtha, Samarth, Mandal, Kausik, Khurana, Ashok, Diego‐Álvarez, Dan, Pradas, Laura, Saxena, Renu, Phadke, Shubha, Moirangthem, Amita, Masih, Suzena, Sud, Seema, Verma, Ishwar Chander, Dua Puri, Ratna

“…Pontocerebellar hypoplasia (PCH) type 12 is a rare, perinatal lethal neurodegenerative genetic disorder caused by biallelic mutations in the COASY gene…”
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Implications of CYP21A2 Gene Duplications in Carrier Screening and Prenatal Diagnosis of Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency by Dubey, Sudhisha, Saxena, Renu, Puri, Ratna Dua, Verma, Ishwar Chander

“…Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that presents as salt wasting or simple virilization (SV). It is due to…”
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Clinical and molecular characterization of Indian patients with fructose‐1, 6‐bisphosphatase deficiency: Identification of a frequent variant (E281K) by Bhai, Pratibha, Bijarnia‐Mahay, Sunita, Puri, Ratna D., Saxena, Renu, Gupta, Deepti, Kotecha, Udhaya, Sachdev, Anil, Gupta, Dhiren, Vyas, Vyomesh, Agarwal, Divya, Jain, Vivek, Bansal, Rajeev K., Kumar, Tapisha G., Verma, Ishwar Chander

“…Fructose‐1, 6‐bisphosphatase deficiency is an autosomal recessive disorder of gluconeogenesis caused by genetic defect in the FBP1 gene. It is characterized by…”
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Case series of creatine deficiency syndrome due to guanidinoacetate methyltransferase deficiency by Narayan, Vinu, Mahay, Sunita, Verma, Ishwar, Puri, Ratna

“…Guanidinoacetate methyltransferase (GAMT) deficiency is the second most common defect in the creatine metabolism pathway resulting in cerebral creatine…”
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LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family by Bijarnia-Mahay, Sunita, Roy, Gaurav, Padiath, Quasar, Saxena, Renu, Verma, Ishwar

“…Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in…”
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Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes by Gupta, Deepti, Bijarnia-Mahay, Sunita, Kohli, Sudha, Saxena, Renu, Puri, Ratna Dua, Shigematsu, Yosuke, Yamaguchi, Seiji, Sakamoto, Osamu, Gupta, Neerja, Kabra, Madhulika, Thakur, Seema, Deb, Roumi, Verma, Ishwar Chander

“…The goal of this study was to identify mutations in the propionyl-CoA carboxylase alpha subunit (PCCA) and propionyl-CoA carboxylase beta subunit (PCCB) genes,…”
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Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD by Pandita, Shewata, Ramachandran, Vijaya, Balakrishnan, Prahlad, Rolfs, Arndt, Brandau, Oliver, Eichler, Sabrina, Bhalla, Anil Kumar, Khullar, Dinesh, Amitabh, Vindu, Ramanarayanan, Sivaramakrishnan, Kher, Vijay, Verma, Jyotsna, Kohli, Sudha, Saxena, Renu, Verma, Ishwar Chander

“…Autosomal Dominant Polycystic Kidney Disease (ADPKD) accounts for 2.6% of the patients with chronic kidney disease in India. ADPKD is caused by pathogenic…”
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Prevalence of cytogenetic anomalies in couples with recurrent miscarriages: A Case-control study by Kalotra, Vishali, Lall, Meena, Saviour, Pushpa, Verma, Ishwar, Kaur, Anupam

“…Background: About 15%-20% of couples get affected by recurrent miscarriages (RM) and chromosomal abnormality in one partner affects 3%-6% of RM couples. Aims:…”
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Fetal valproate syndrome as a phenocopy of Kleefstra syndrome by Arora, Veronica, Joshi, Anju, Lall, Meena, Agarwal, Shruti, Bijarnia Mahay, Sunita, Dua puri, Ratna, Chander Verma, Ishwar

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Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients by Nampoothiri, Sheela, Yesodharan, Dhanya, Bhattacherjee, Amrita, Ahamed, Hisham, Puri, Ratna Dua, Gupta, Neerja, Kabra, Madhulika, Ranganath, Prajnya, Bhat, Meenakshi, Phadke, Shubha, Radha Rama Devi, Akella, Jagadeesh, Sujatha, Danda, Sumita, Sylaja, Padmavathy Narayana, Mandal, Kausik, Bijarnia‐Mahay, Sunita, Makkar, Ravinder, Verma, Ishwar Chander, Dalal, Ashwin, Ramaswami, Uma

“…Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide phenotypic spectrum. There is a scarcity of published data on the burden of…”
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Survival Analysis of Down Syndrome Cohort in a Tertiary Health Care Center in India by Nahar, Risha, Kotecha, Udhaya, Puri, Ratna Dua, Pandey, Ravindra Mohan, Verma, Ishwar Chander

“…Objective To identify the major causes of death in Down Syndrome (DS), the ages at which mortality rates are the highest and recognize factors associated with…”
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Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)—Report of Two Novel and Two Known Mutations from the Indian Subcontinent by Bijarnia, Sunita, Kohli, Sudha, Puri, Ratna Dua, Jacob, Rintu J., Saxena, Renu, Jalan, Anil, Sistermans, Eric A., Mahmood, Saqib, Verma, Ishwar Chander

“…Objectives To establish a technique for mutation identification and prenatal screening in confirmed cases of Canavan disease. Method Mutations in ASPA gene…”
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Conformational Change of UGT1A1 by a Novel Missense Mutation (p.L131P) Causing Crigler‐Najjar Syndrome Type I by Maruo, Yoshihiro, Verma, Ishwar Chander, Matsui, Katsuyuki, Takahashi, Hiroko, Mimura, Yu, Ota, Yoriko, Mori, Asami, Saxena, Renu, Sato, Hiroshi, Takeuchi, Yoshihiro

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

“…The authors review the utility of genetic testing in ophthalmic disorders – precise diagnosis, accurate prognosis, genetic counseling, prenatal diagnosis, and…”
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Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder by Bhatia, Sameer, Pal, Swasti, Kulshrestha, Samarth, Gupta, Dhiren, Soni, Arun, Saxena, Renu, Bijarnia-Mahay, Sunita, Verma, Ishwar Chander, Puri, Ratna Dua

“…Next generation sequencing based diagnosis has emerged as a promising tool for evaluating critically ill neonates and children. However, there is limited data…”
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A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation by Bhatia, Sameer Kumar, Arora, Veronica, Verma, Ishwar Chander

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Next-Generation Sequencing in Unexplained Intellectual Disability by Sandal, Sapna, Verma, Ishwar Chander, Mahay, Sunita Bijarnia, Dubey, Sudhisha, Sabharwal, R K, Kulshrestha, Samarth, Saxena, Renu, Suman, Praveen, Kumar, Praveen, Puri, Ratna Dua

“…Objectives To determine the diagnostic yield of next generation sequencing (NGS) in patients with moderate/severe/profound intellectual disability (ID)…”
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Noninvasive Prenatal Testing: The Indian Perspective by Verma, Ishwar Chander

“…This article summarizes the Professor Kamal Buckshee Oration given by the author at the annual conference of the Society of Fetal Medicine in Kochi, August…”
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