Institute of Human Genetics

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Publication of last two years

Publication

  • 1. Sheth F, Liehr T, Mrasek K, Andrieux J, Tweari S, Nazneen L, Sheth J (2018). sSMC characterization in male with Turner Synderome Stigmata. OBM Genetics DOI: 10.21926/obm.genet.1803033 https://www.researchgate.net/publication/327554967_sSMC_Characterization_in_a_Male_with_Turner_Syndrome_Stigmata

  • 2. Sheth J, Mistri M, Mahadevan L, Mehta S, Solanki D, Kamate M, Sheth F (2018). Identification in deletion-duplication in HEXA gene in five children with Tay-Sach disease in India. BMC Medical Genetics 19:109. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032535

  • 3. Sheth J, Bhavsar R, Patel D, Joshi A, Sheth F (2018). Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis. International Journal of Dermatology 57(4):428-433 https://www.ncbi.nlm.nih.gov/pubmed/29377090

  • 4. Sheth J, Bhavsar R, Gandhi A, Sheth F, Pancholi D (2018). A case of Raine syndrome presenting with facial dysmorphy and review of literature. BMC Medical Genetics 19:76. https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-018-0593-x

  • 5. Tewari s, Naznin L, Shah R, Ahmed B. H., Sha K, Sheth J Sheth F (2017). Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15. Molecular Cytogenetics. 10:38. doi: 10.1186/s13039-017-0339-z. https://www.ncbi.nlm.nih.gov/pubmed/29090019

  • 6. Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G, DDD Study, Attié-Bitach T, Boutaud L, Héron D, Mignot C (2017). Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Human Genetics. 136(4):463-479. doi: 10.1007/s00439-017-1772-0.https://www.ncbi.nlm.nih.gov/pubmed/28283832

  • 7. Thuresson AC, Van Buggenhout G, Sheth F, Kamate M, Andrieux J, Clayton Smith J, Soussi Zander C. Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development. Clinical Genetics 91:106-110. doi: 10.1111/cge.12797 https://www.ncbi.nlm.nih.gov/pubmed/27153334

  • 8. Sheth J, Ranjan G, Shah K, Bhavsar R, Sheth F (2017). Novel LINS1 Missense Mutation in a Family With Non-Syndromic Intellectual Disability. American Journal of Medical Genetics 173(4):1041-1046. doi: 10.1002/ajmg.a.38089 https://www.ncbi.nlm.nih.gov/pubmed/28181389

  • 9. Sheth J, Joseph J, Shah K, Muranjan M, Mistri M, Sheth F (2017). Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature. BMC Medical Genetics. 18(1):5 DOI 10.1186/s12881-017-0367-x http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-017-0367-x

  • 10. Solanki A, Selvaa CK, Sheth F, Radhakrishnan N, Kalra M, Vundinti B (2017). Characterization of two novel FANCG mutations in Indian Fanconi anemia patients. Leukemia Research 53:50-56. http://www.lrjournal.com/article/S0145-2126(16)30259-4/fulltext

  • 11. Thuresson AC, Buggenhout GV, Sheth F, Kamate M, Andrieux J, Smith JC, Zander CS (2017). Whole gene duplication of SCN2A and SCN3A is compatible with normal intellectual development. Clinical Genetics. 91(1):106-110. http://www.ncbi.nlm.nih.gov/pubmed/27153334

  • 12. Sheth F, Naznin L, Liehr T, Sheth J (2016). FISH – The Best Technique in Characterization of Prenatally Detected Small Supernumerary Marker Chromosomes (sSMC). International Journal of Pregnancy and Child Birth 1(1): 00005. DOI: 10.15406/ipcb.2016.01.00005. http://medcraveonline.com/IPCB/IPCB-01-00005.php

  • 13. Sheth J, Mistri M, Shah K, Chowdhury M, Godbole K, Sheth F (2016). Lysosomal Storage Disorders in Non-immune Hydrops Fetalis (NIHF) – An Indian Experience. JIMD Reports DOI: 10.1007/8904_2016_24 (Epub ahead of print) https://www.ncbi.nlm.nih.gov/pubmed/27928775

  • 14. Sheth J, Datar C, Mistri M, Bhasar R, Sheth F and Shah K (2016). GM2 gandliosidosis AB variant: novel mutation from India- a case report with a review. BMC Pediatrics 16:88. doi: 10.1186/s12887-016-0626-6 http://www.ncbi.nlm.nih.gov/pubmed/27402091

  • 15. Tamhankar P, Mistri M, Kondurkar P, Sanghavi D, Sheth J (2016). Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. Journal of Human Genetics 61(2):163 – 166. http://www.ncbi.nlm.nih.gov/pubmed/26582265

Articles in local language

Nature's Horoscope

Healthy nation through healthy mother and child

Mental health through scientific approach

TALLINN

 

Articles in English language

Nature's Horoscope

Healthy nation through healthy mother and child

Mental health through scientific approach

R J Sheth

TALLINN