Search Results - "Pancholi, Dhairya"

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…”
Get full text

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…”
Get full text

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'…”
Get full text

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…”
Get full text

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…”
Get full text