Search Results - "Bhavsar, Riddhi"

The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome by Sheth, Harsh, Naik, Premal, Shah, Maulin, Bhavsar, Riddhi, Nair, Aadhira, Sheth, Frenny, Sheth, Jayesh

“…Abstract Background Mucopolysaccharidosis IVA (Morquio syndrome A, MPS IVA) is an autosomal recessive lysosomal storage disorder caused due to biallelic…”
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A case of Raine syndrome presenting with facial dysmorphy and review of literature by Sheth, Jayesh, Bhavsar, Riddhi, Gandhi, Ajit, Sheth, Frenny, Pancholi, Dhairya

“…Raine syndrome (RS) - an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common…”
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Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III by Pasumarthi, Divya, Gupta, Neerja, Sheth, Jayesh, Jain, S. Jamal Md Nurul, Rungsung, Ikrormi, Kabra, Madhulika, Ranganath, Prajnya, Aggarwal, Shagun, Phadke, Shubha R, Girisha, Katta M., Shukla, Anju, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Bhavsar, Riddhi, Mistry, Mehul, Sankar, V. H., Gowrishankar, Kalpana, Agrawal, Divya, Nair, Mohandas, Danda, Sumita, Soni, Jai Prakash, Dalal, Ashwin

“…Mucolipidosis (ML) (OMIM 607840 & 607838) is a rare autosomal recessive inherited disorder that occurs due to the deficiency of golgi enzyme uridine…”
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Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a review by Sheth, Jayesh, Patel, Akash, Shah, Raju, Bhavsar, Riddhi, Trivedi, Sunil, Sheth, Frenny

“…Hemophagocytic Lymphohistiocytosis (HLH) is a rare, complex, life-threatening hyper-inflammatory condition due to over activation of lymphocytes mediated…”
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Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation by Sheth, Jayesh, Bhavsar, Riddhi, Mistri, Mehul, Pancholi, Dhairya, Bavdekar, Ashish, Dalal, Ashwin, Ranganath, Prajnya, Girisha, Katta M, Shukla, Anju, Phadke, Shubha, Puri, Ratna, Panigrahi, Inusha, Kaur, Anupriya, Muranjan, Mamta, Goyal, Manisha, Ramadevi, Radha, Shah, Raju, Nampoothiri, Sheela, Danda, Sumita, Datar, Chaitanya, Kapoor, Seema, Bhatwadekar, Seema, Sheth, Frenny

“…Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase…”
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Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India by Sheth, Jayesh, Pancholi, Dhairya, Mistri, Mehul, Nath, Payal, Ankleshwaria, Chitra, Bhavsar, Riddhi, Puri, Ratna, Phadke, Shubha, Sheth, Frenny

“…Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells'…”
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Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India by Sheth, Harsh, Nair, Aadhira, Bhavsar, Riddhi, Kamate, Mahesh, Gowda, Vykuntaraju K, Bavdekar, Ashish, Kadam, Sandeep, Nampoothiri, Sheela, Panigrahi, Inusha, Kaur, Anupriya, Shah, Siddharth, Mehta, Sanjeev, Jagadeesan, Sujatha, Suresh, Indrani, Kapoor, Seema, Bajaj, Shruti, Devi, Radha Rama, Prajapati, Ashka, Godbole, Koumudi, Patel, Harsh, Luhar, Zulfiqar, Shah, Raju C, Iyer, Anand, Bijarnia, Sunita, Puri, Ratna, Muranjan, Mamta, Shah, Ami, Magar, Suvarna, Gupta, Neerja, Tayade, Naresh, Gandhi, Ajit, Sowani, Ajit, Kale, Shrutikaa, Jalan, Anil, Solanki, Dhaval, Dalal, Ashwin, Mane, Shrikant, Prabha, C Ratna, Sheth, Frenny, Joshi, Chaitanya G, Joshi, Madhvi, Sheth, Jayesh

“…Current clinical diagnosis pathway for lysosomal storage disorders (LSDs) involves sequential biochemical enzymatic tests followed by DNA sequencing, which is…”
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Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India by Sheth, Jayesh, Nair, Aadhira, Bhavsar, Riddhi, Shah, Heli, Tayade, Naresh, Prabha, C. Ratna, Sheth, Frenny, Sheth, Harsh

“…Metachromatic leukodystrophy (MLD) due to Sap‐B deficiency is a rare autosomal recessive disorder caused due to biallelic variants in the PSAP gene. The PSAP…”
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Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature by Sheth, Jayesh, Nair, Aadhira, Bhavsar, Riddhi, Godbole, Koumudi, Datar, Chaitanya, Nampoothiri, Sheela, Panigrahi, Inusha, Shah, Heli, Bajaj, Shruti, Tayade, Naresh, Bhardwaj, Naveen, Sheth, Harsh

“…Lysosomal storage disorders (LSDs) in adults have milder phenotype and variable age at presentation. Several studies have described the phenotype, genotype and…”
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Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients by Sheth, Jayesh, Mistri, Mehul, Bhavsar, Riddhi, Pancholi, Dhairya, Kamate, Mahesh, Gupta, Neerja, Kabra, Madhulika, Mehta, Sanjiv, Nampoothiri, Sheela, Thakker, Arpita, Jain, Vivek, Shah, Raju, Sheth, Frenny

“…Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage…”
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Novel LINS1 missense mutation in a family with non‐syndromic intellectual disability by Sheth, Jayesh, Ranjan, Gyan, Shah, Krati, Bhavsar, Riddhi, Sheth, Frenny

“…Newer sequencing technologies decipher molecular variations and increase the knowledge of pathogenesis of complex diseases like intellectual disability (ID),…”
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Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors by Sheth, Jayesh, Mohapatra, Ira, Patra, Gangotri, Bhavsar, Riddhi, Patel, Chandni, Shah, Siddharth, Nair, Aadhira

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GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review by Sheth, Jayesh, Datar, Chaitanya, Mistri, Mehul, Bhavsar, Riddhi, Sheth, Frenny, Shah, Krati

“…GM2 gangliosidosis-AB variants a rare autosomal recessive neurodegenerative disorder occurring due to deficiency of GM2 activator protein resulting from the…”
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Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population by Sheth, Harsh, Pancholi, Dhairya, Bhavsar, Riddhi, Mannan, Ashraf, Ganapathy, Aparna, Chowdhury, Mayank, Shah, Sudhir, Solanki, Dhawal, Sheth, Frenny, Sheth, Jayesh

“…Background: Neurological diseases are phenotypically and genotypically heterogeneous. Clinical exome sequencing (CES) has been shown to provide a high…”
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Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis by Sheth, Jayesh J., Bhavsar, Riddhi, Patel, Dhairya, Joshi, Aishwarya, Sheth, Frenny J.

“…Background Harlequin ichthyosis (HI) is a severe genetic disorder caused by the mutation in the ABCA12 gene. Infants born with this condition have markedly…”
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Harlequin ichthyosis due to novel splice site mutation in the ABCA 12 gene: postnatal to prenatal diagnosis by Sheth, Jayesh J., Bhavsar, Riddhi, Patel, Dhairya, Joshi, Aishwarya, Sheth, Frenny J.

“…Abstract Background Harlequin ichthyosis ( HI ) is a severe genetic disorder caused by the mutation in the ABCA 12 gene. Infants born with this condition have…”
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Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum by Sheth, Jayesh, Mistri, Mehul, Bhavsar, Riddhi, Patel, Harsh, Sheth, Frenny

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Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre by Sheth, Jayesh, Nair, Aadhira, Sheth, Frenny, Ajagekar, Manali, Dhondekar, Tejasvi, Panigrahi, Inusha, Bavdekar, Ashish, Nampoothiri, Sheela, Datar, Chaitanya, Gandhi, Ajit, Muranjan, Mamta, Kaur, Anupriya, Desai, Manisha, Mistri, Mehul, Patel, Chitra, Naik, Premal, Shah, Maulin, Godbole, Koumudi, Kapoor, Seema, Gupta, Neerja, Bijarnia-Mahay, Sunita, Kadam, Sandeep, Solanki, Dhaval, Desai, Soham, Iyer, Anand, Patel, Ketan, Patel, Harsh, Shah, Raju C, Mehta, Shalmi, Shah, Ruchi, Bhavsar, Riddhi, Shah, Jhanvi, Pandya, Mili, Patel, Bhagyadhan, Shah, Sudhir, Shah, Heli, Shah, Shalin, Bajaj, Shruti, Shah, Siddharth, Thaker, Nilam, Kalane, Umesh, Kamate, Mahesh, Kn, Vykunta Raju, Tayade, Naresh, Jagadeesan, Sujatha, Jain, Deepika, Chandarana, Mitesh, Singh, Jitendra, Mehta, Sanjiv, Suresh, Beena, Sheth, Harsh

“…Rare disorders comprise of ~ 7500 different conditions affecting multiple systems. Diagnosis of rare diseases is complex due to dearth of specialized medical…”
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Lysosomal storage disorders in Indian children with neuroregression attending a genetic center by Sheth, Jayesh, Mistri, Mehul, Bhavsar, Riddhi, Sheth, Frenny, Kamate, Mahesh, Shah, Heli, Datar, Chaitanya

“…Objective To study the etiology of neuroregression in children having deficiency of the lysosomal enzymes. Design Review of medical records. Setting…”
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Molecular characterization and identification of novel mutations in the PPT1 gene causing neuronal ceroid lipofuscinosis-1 (NCL1) in children from India by Bhavsar, Riddhi A., Sheth, Jayesh J., Mistri, Mehul A., Kamate, Mahesh R., Sheth, Frenny J.

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