Publications by authors named "Jayesh J Sheth"

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Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.
Sheela Nampoothiri, Nursel H Elcioglu, Suleyman S Koca, Dhanya Yesodharan, Chandrababu Kk, Jayesh J Sheth

Clin Dysmorphol· January 2019

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Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis.
Jayesh J Sheth, Riddhi Bhavsar, Dhairya Patel, Aishwarya Joshi, Frenny J Sheth

Int J Dermatol· April 2018

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Does vitamin D play a significant role in type 2 diabetes?
Jayesh J Sheth, Ankna Shah, Frenny J Sheth, Sunil Trivedi, Mamta Lele

BMC Endocr Disord· February 2015

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Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality.
Frenny J Sheth, Chaitanya Datar, Joris Andrieux, Anand Pandit, Darshana Nayak, Jayesh J Sheth

Clin Med Insights Pediatr· October 2014

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Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study.
Frenny J Sheth, Thomas Liehr, Pritti Kumari, Ralph Akinde, Harsh J Sheth, Jayesh J Sheth

Indian J Hum Genet· October 2013

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Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.
Jayesh J Sheth, Chitra M Ankleshwaria, Rajeshwari Pawar, Frenny J Sheth

Case Rep Genet· November 2012

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Hidradenitis suppurativa (or Acne inversa) with autosomal dominant inheritance is not linked to chromosome 1p21.1-1q25.3 region.
Faiza Mohamed Saleh Al-Ali, Uppala Ratnamala, Timir Y Mehta, Mohammad Naveed, Mahmoud T Al-Ali, Jayesh J Sheth

Exp Dermatol· September 2010

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Association of HLA-B*1502 allele and carbamazepine-induced Stevens-Johnson syndrome among Indians.
Timir Y Mehta, Laxman M Prajapati, Bharti Mittal, Chaitanya G Joshi, Jayesh J Sheth

Indian J Dermatol Venereol Leprol· February 2010

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Plasma chitotriosidase activity in children with lysosomal storage disorders.
Jayesh J Sheth, Frenny J Sheth, Nrupesh J Oza, Prakash S Gambhir, Usha P Dave

Indian J Pediatr· February 2010

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Niemann-Pick type C disease.
Jayesh J Sheth, Frenny J Sheth, Nrupesh Oza

Indian Pediatr· June 2008

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A three way complex translocation (4; 9; 22) in two patients with chronic myelocytic leukemia.
Frenny J Sheth, Jayesh J Sheth, Alain Verhest

J Cancer Res Ther· December 2007

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Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34.
Uppala Radhakrishna, Uppala Ratnamala, Mathew Gaines, Soraya Beiraghi, David Hutchings, Jayesh J Sheth, Frenny J Sheth

Am J Hum Genet· September 2006

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Case of near triploidy with i(17)(q10) in blast crisis CML.
Frenny J Sheth, Jayesh J Sheth, Chirag Desai

Cancer Genet Cytogenet· January 2006

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Gene polymorphism and folate metabolism: a maternal risk factor for Down syndrome.
Jayesh J Sheth, Frenny J Sheth

Indian Pediatr· February 2003

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Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.
Jayesh J Sheth, Frenny J Sheth, Raktima Bhattacharya

Indian J Pediatr· January 2002

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