المؤلفون: Reddy Nalla Anuraag, Addala Soundarya, Prasada L. Harsha

المصدر: Pediatric Hematology Oncology Journal, Vol 7, Iss 4, Pp S18- (2022)

مصطلحات موضوعية: Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2468124522003035; https://doaj.org/toc/2468-1245

URL الوصول: https://doaj.org/article/004144b56d224ce3be3b0f5cfacbb346

المؤلفون: Sharma, Pankaj, Bhatia, Prateek, Singh, Minu, Das, Reena, Attri, Savita Verma, Ghara, Niharendu, Prasada, L. Harsha, Trehan, Amita

المساهمون: ICMR

المصدر: Gene ; volume 895, page 147981 ; ISSN 0378-1119

الاتاحة: http://dx.doi.org/10.1016/j.gene.2023.147981
https://api.elsevier.com/content/article/PII:S0378111923008223?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0378111923008223?httpAccept=text/plain

المؤلفون: Shenoy, Rathika Damodara, Yeshvanth, Sunil Kumar, Prasada L, Harsha, Shenoy, Vijaya, Shetty, Vikram

المساهمون: Department of Health Research

المصدر: Pediatric Blood & Cancer ; volume 66, issue 2 ; ISSN 1545-5009 1545-5017

الاتاحة: http://dx.doi.org/10.1002/pbc.27527
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpbc.27527
https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.27527

المؤلفون: Hebbar, Malavika, Prasada L, Harsha, Bhowmik, Aneek Das, Trujillano, Daniel, Shukla, Anju, Chakraborti, Shrijeet, Kandaswamy, Krishna Kumar, Rolfs, Arndt, Kamath, Nutan, Dalal, Ashwin, Bielas, Stephanie, Girisha, Katta Mohan

مصطلحات موضوعية: Genetics, Health Sciences

وصف الملف: application/pdf

Relation: Hebbar, Malavika; Prasada L, Harsha; Bhowmik, Aneek Das; Trujillano, Daniel; Shukla, Anju; Chakraborti, Shrijeet; Kandaswamy, Krishna Kumar; Rolfs, Arndt; Kamath, Nutan; Dalal, Ashwin; Bielas, Stephanie; Girisha, Katta Mohan (2016). "Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C." American Journal of Medical Genetics Part A 170(9): 2486-2489.; http://hdl.handle.net/2027.42/134235; American Journal of Medical Genetics Part A; Sleat DE, Wiseman JA, El‐Banna M, Price SM, Verot L, Shen MM, Tint GS, Vanier MT, Walkley SU, Lobel P. 2004. Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc Natl Acad Sci USA 101: 5886 – 5891.; Vanier MT. 2010. Niemann‐Pick disease type C. Orphanet J Rare Dis 5: 16.; Alobaidy H. 2015. Recent advances in the diagnosis and treatment of Niemann‐Pick disease type C in children: A guide to early diagnosis for the general pediatrician. Int J Pediatr 2015:816593. doi:10.1155/2015/816593; Bidchol AM, Dalal A, Shah HSS, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM. 2014. GALNS mutations in Indian patients with mucopolysaccharidosis IVA. Am J Med Genet Part A 164A: 2793 – 2801.; Bidchol AM, Dalal A, Trivedi R, Shukla A, Nampoothiri S, Sankar VH, Danda S, Gupta N, Kabra M, Hebbar SA, Bhat RY, Matta D, Ekbote AV, Puri RD, Phadke SR, Gowrishankar K, Aggarwal S, Ranganath P, Sharda S, Kamate M, Datar CA, Bhat K, Kamath N, Shah H, Krishna S, Gopinath PM, Verma IC, Nagarajaram HA, Satyamoorthy K, Girisha KM. 2015. Recurrent and novel GLB1 mutations in India. Gene 567: 173 – 181.; Chikh K, Rodriguez C, Vey S, Vanier MT, Millat G. 2005. Niemann‐Pick type C disease: Subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations. Hum Mutat 26: 20 – 28.; Dalal A, Bhavani GS, Togarrati PP, Bierhals T, Nandineni MR, Danda S, Danda D, Shah H, Vijayan S, Gowrishankar K, Phadke SR, Bidchol AM, Rao AP, Nampoothiri S, Kutsche K, Girisha KM. 2012. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. Am J Med Genet Part A 158A: 2820 – 2828.; Girisha KM, Shukla A, Trujillano D, Bhavani GS, Hebbar M, Kadavigere R, Rolfs A. 2016. A homozygous nonsense variant in IFT52 is associated with a human skelciliopathy. Clin Genet doi:10.1111/cge.12762 [In press].; Griese M, Brasch F, Aldana VR, Cabrera MM, Goelnitz U, Ikonen E, Karam BJ, Liebisch G, Linder MD, Lohse P, Meyer W, Schmitz G, Pamir A, Ripper J, Rolfs A, Schams A, Lezana FJ. 2010. Respiratory disease in Niemann‐Pick type C2 is caused by pulmonary alveolar proteinosis. Clin Genet 77: 119 – 130.; Millat G, Chikh K, Naureckiene S, Sleat DE, Fensom AH, Higaki K, Elleder M, Lobel P, Vanier MT. 2001. Niemann‐Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Am J Hum Genet 69: 1013 – 1021.; Naureckiene S, Sleat DE, Lackland H, Fensom A, Vanier MT, Wattiaux R, Jadot M, Lobel P. 2000. Identification of HE1 as the second gene of Niemann‐Pick C disease. Science 290: 2298 – 2301.; Park WD, O’Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K. 2003. Identification of 58 novel mutations in Niemann‐Pick disease type C: Correlation with biochemical phenotype and importance of PTC1‐like domains in NPC1. Hum Mutat 22: 313 – 325.; Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F. 2012. Recommendations for the diagnosis and management of Niemann‐Pick disease type C: An update. Mol Genet Metab 106: 330 – 344.; Reunert J, Lotz‐Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau AC, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina AP, Mall MA, Ciana G, Bembi B, Burlina AB, Marquardt T. 2015. Niemann‐Pick type C‐2 disease: Identification by analysis of plasma cholestane‐3beta, 5alpha, 6beta‐triol, and further insight into the clinical phenotype. JIMD Rep 23: 17 – 26.

الاتاحة: http://hdl.handle.net/2027.42/134235
https://doi.org/10.1002/ajmg.a.37794

المؤلفون: Shenoy, Rathika Damodara, Yeshvanth, Sunil Kumar, Prasada L, Harsha, Shenoy, Vijaya, Shetty, Vikram

المصدر: Pediatric Blood & Cancer; Feb2019, Vol. 66 Issue 2, pN.PAG-N.PAG, 1p