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Page 1
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Deshpande D, Gupta SK, Sarma AS, Ranganath P, Jain S JMN, Sheth J, Mistri M, Gupta N, Kabra M, Phadke SR, Girisha KM, Dua Puri R, Aggarwal S, Datar C, Mandal K, Tilak P, Muranjan M, Bijarnia-Mahay S, Rama Devi A R, Tayade NB, Ranjan A, Dalal AB. Deshpande D, et al. Among authors: tilak p. Hum Mutat. 2021 Oct;42(10):1336-1350. doi: 10.1002/humu.24263. Epub 2021 Aug 3. Hum Mutat. 2021. PMID: 34273913
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JM, Verma IC, Kabra M, Puri RD, Danda S, Gupta N, Girisha KM, Sankar VH, Patil SJ, Ramadevi AR, Bhat M, Gowrishankar K, Mandal K, Aggarwal S, Tamhankar PM, Tilak P, Phadke SR, Dalal A. Ranganath P, et al. Among authors: tilak p. Am J Med Genet A. 2016 Oct;170(10):2719-30. doi: 10.1002/ajmg.a.37817. Epub 2016 Jun 24. Am J Med Genet A. 2016. PMID: 27338287
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.
Ganapathy A, Mishra A, Soni MR, Kumar P, Sadagopan M, Kanthi AV, Patric IRP, George S, Sridharan A, Thyagarajan TC, Aswathy SL, Vidya HK, Chinnappa SM, Nayanala S, Prakash MB, Raghavendrachar VG, Parulekar M, Gowda VK, Nampoothiri S, Menon RN, Pachat D, Udani V, Naik N, Kamate M, Devi ARR, Mohammed Kunju PA, Nair M, Hegde AU, Kumar MP, Sundaram S, Tilak P, Puri RD, Shah K, Sheth J, Hasan Q, Sheth F, Agrawal P, Katragadda S, Veeramachaneni V, Chandru V, Hariharan R, Mannan AU. Ganapathy A, et al. Among authors: tilak p. J Neurol. 2019 Aug;266(8):1919-1926. doi: 10.1007/s00415-019-09358-1. Epub 2019 May 8. J Neurol. 2019. PMID: 31069529
Primary amenorrhea with Xq duplication.
Rajangam S, Lincoln S, Tilak P, Thomas IM. Rajangam S, et al. Among authors: tilak p. Indian J Med Sci. 1999 Feb;53(2):49-52. Indian J Med Sci. 1999. PMID: 10798023
An unusual case of haemophilia--a case report.
Sitalakshmi S, Tilak P, Srikrishna A, Damodar P, Thomas IM. Sitalakshmi S, et al. Among authors: tilak p. Indian J Pathol Microbiol. 2001 Jul;44(3):367-8. Indian J Pathol Microbiol. 2001. PMID: 12024938
Chromosome 19; 20 reciprocal translocation.
Jayakaran F, Tilak P, Rajangam SM, Thomas IM. Jayakaran F, et al. Among authors: tilak p. J Postgrad Med. 2002 Jan-Mar;48(1):71. J Postgrad Med. 2002. PMID: 12082336 Free article. No abstract available.
Androgen insensitivity syndrome: ten years of our experience.
Subramaniam A, Singh R, Tilak P, Devi R, Kulandaivelu M, Kumarasamy T. Subramaniam A, et al. Among authors: tilak p. Front Biosci (Elite Ed). 2013 Jan 1;5(2):779-84. doi: 10.2741/e658. Front Biosci (Elite Ed). 2013. PMID: 23277032 Free article. Review.
Platform presentations.
Pereda J, Niimi G, Kaul JM, Mishra S, Pangtey B, Peri D, Cannella V, Peri G, Valentino A, Li Volsi F, Lo Verde R, Russo E, Sciuto A, Sunseri A, Modica G, Gravante G, Ong SL, Metcalfe M, Lloyd D, Dennison A, Macchi V, Porzionato A, Parenti A, De Caro R, Al-Harmni KI, Rahemo ZI, Al-Khan HI, Bakan V, Demirpolat G, Bozkurt M, Gumusalan Y, Acer N, Demir M, Taskoparan H, Akkaya A, Yildirim B, Camurdanoglu M, Guven G, Ozden H, Kabay S, Ustuner C, Burukoglu D, Ustuner D, Degirmenci I, Akyuz F, Tekin N, Kucuk F, Gurer F, Ustuner MC, Ozbag D, Ozkaya M, Ciralik H, Tolun FI, Yuzbasioglu F, Arslan S, Moshkdanian G, Pouya F, Nematollahi-Mahani A, Nematollahi-Mahani SN, Ger R, Nikfarjam J, Dooley K, Liu S, Li Z, Lin X, Meng H, Liu C, Feng L, Chung MS, Shin DS, Havet E, Dujardin AC, Duparc F, Freger P, Oommen A, Stosch C, Koebke J, Herzig S, Jqbal A, Gazzani P, Rattay T, Fruhstorfer B, Vohrah A, Wellings RM, Brydges S, Smith GR, Roebuck J, Abrahams PH, Baca V, Otcenasek M, Svatos F, Smrzova T, Grill R, Kachlik D, Skubal J, Dzupa V, Doubkova A, Klepacek I, Stingl J, Ali M, Bedir Y, Weber G, Malek K, Patrick A, Rochambeau B, Knickelbein P, Choi DY, Hur MS, Youn KH, Hu KS, Kim HJ, Aksoy F, Yildirim … See abstract for full author list ➔ Pereda J, et al. Among authors: tilak p. Surg Radiol Anat. 2009 Sep;31 Suppl 1:49-93. doi: 10.1007/BF03371485. Surg Radiol Anat. 2009. PMID: 27392491 No abstract available.
Embryogenesis and types of subcostal hernia--a rare entity.
Raghu SR, Alladi A, Vepakomma D, Siddappa OS, Tilak P. Raghu SR, et al. Among authors: tilak p. J Pediatr Surg. 2013 Mar;48(3):533-7. doi: 10.1016/j.jpedsurg.2012.08.005. J Pediatr Surg. 2013. PMID: 23480907 Review.
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