Search Results - "Sheth, Jayesh"

Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.

Authors: Sheth, Jayesh Dhondekar, Tejasvi Ajagekar, Manali et al.

Source: Orphanet Journal of Rare Diseases. 9/2/2025, Vol. 20 Issue 1, p1-14. 14p.

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Authors: Sheth, Jayesh Nair, Aadhira Sheth, Frenny et al.

Source: Orphanet Journal of Rare Diseases. 8/13/2024, Vol. 19 Issue 1, p1-17. 17p.

Genotype–Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing.

Authors: Sheth, Frenny Shah, Jhanvi Muranjan, Mamta et al.

Source: American Journal of Medical Genetics. Part A; Jul2026, Vol. 200 Issue 7, p1673-1681, 9p

Identification of LRFN1 as a novel synaptopathy gene in a child with autism.

Authors: Shah, Jhanvi Jain, Deepika Sheth, Jayesh et al.

Source: Discover Neuroscience. 7/28/2025, Vol. 20 Issue 1, p1-9. 9p.

KBG Syndrome in 16 Indian Individuals.

Authors: Bajaj, Shruti Nampoothiri, Sheela Chugh, Roshni et al.

Source: American Journal of Medical Genetics. Part A; Feb2025, Vol. 197 Issue 2, p1-9, 9p

Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India.

Authors: Shah, Jhanvi Mondal, Debasrija Jain, Deepika et al.

Source: BMC Medical Genomics. 8/20/2025, Vol. 18 Issue 1, p1-12. 12p.

The Vojnosanitetski pregled in 2022 - Challenges as an incentive for improvement.

Alternate Title: Vojnosanitetski pregled u 2022. godini - Izazovi kao podsticaj za napredak.

Authors: Vučević, Dragana¹ vsp@vma.mod.gov.rs

Source: Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia. Jan2023, Vol. 80 Issue 1, p5-8. 4p.

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.

Authors: Sheth, Frenny Shah, Jhanvi Jain, Deepika et al.

Source: BMC Neurology. 8/5/2023, Vol. 23 Issue 1, p1-15. 15p.

Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.

Authors: Sheth, Jayesh Mohapatra, Ira Patra, Gangotri et al.

Source: Annals of Indian Academy of Neurology. May/Jun2022, Vol. 25 Issue 3, p502-505. 4p.

A Case Report of Chronic Progressive Pancerebellar Syndrome with Leukoencephalopathy:L‐2 Hydroxyglutaric Aciduria.

Authors: Shah, Heli Chandarana, Mitesh Sheth, Jayesh et al.

Source: Movement Disorders Clinical Practice. Jul2020, Vol. 7 Issue 5, p560-563. 4p.

Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.

Authors: Sheth, Jayesh Joseph, Jijo John Shah, Krati et al.

Source: BMC Medical Genetics. 1/17/2017, Vol. 18, p1-5. 5p.

Index-Contents of Volume 32, 2005-2006.

Source: Journal of Environmental Systems. 2005-2006, Vol. 32 Issue 4, p349-351. 3p.

Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants.

Authors: Dobloug, Sigurd Kjellström, Ulrika Anderson, Glenn et al.

Source: Molecular Genetics & Genomic Medicine. Aug2024, Vol. 12 Issue 8, p1-11. 11p.

Does vitamin D play a significant role in type 2 diabetes?

Authors: Sheth, Jayesh J. Shah, Ankna Sheth, Frenny J. et al.

Source: BMC Endocrine Disorders. 2015, Vol. 15 Issue 1, p1-7. 7p. 1 Chart, 2 Graphs.

A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report.

Authors: Sheth, Frenny Shah, Jhanvi Patel, Ketan et al.

Source: BMC Neurology. 1/16/2023, Vol. 23 Issue 1, p1-8. 8p.

Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.

Authors: Sheth, Jayesh J. Ankleshwaria, Chitra M. Pawar, Rajeshwari et al.

Source: Case Reports in Genetics. 2012, p1-4. 4p.

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Authors: Sheth, Jayesh Bhavsar, Riddhi Mistri, Mehul et al.

Source: BMC Medical Genetics. 2/14/2019, Vol. 20 Issue 1, pN.PAG-N.PAG. 1p.

Prenatal dolichocephaly: Sign of trouble? -A variant of Miller-Dieker syndrome.

Authors: Kochuvareed Mampilly, Tomy Tomy Mampilly, George Chandramohan, Neeradha et al.

Source: Fetal & Pediatric Pathology. Jul2013, Vol. 32 Issue 4, p308-311. 4p.

Natural history of non-lethal Raine syndrome during childhood.

Authors: Mameli, Chiara Zichichi, Giulia Mahmood, Nasim et al.

Source: Orphanet Journal of Rare Diseases. 4/16/2020, Vol. 15 Issue 1, p1-9. 9p.

The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome.

Authors: Sheth, Harsh Naik, Premal Shah, Maulin et al.

Source: BMC Genomics. 6/21/2022, Vol. 23 Issue 1, p1-15. 15p.