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Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Bossler AD, Richards J, George C, Godmilow L, Ganguly A. Bossler AD, et al. Among authors: ganguly a. Hum Mutat. 2006 Jul;27(7):667-75. doi: 10.1002/humu.20342. Hum Mutat. 2006. PMID: 16752392
Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features.
Ayari-Jeridi H, Moran K, Chebbi A, Bouguila H, Abbes I, Charradi K, Benammar-Elgaaïed A, Ganguly A. Ayari-Jeridi H, et al. Among authors: ganguly a. PLoS One. 2015 Jan 20;10(1):e0116615. doi: 10.1371/journal.pone.0116615. eCollection 2015. PLoS One. 2015. PMID: 25602518 Free PMC article.
Differential gene expression profile of retinoblastoma compared to normal retina.
Ganguly A, Shields CL. Ganguly A, et al. Mol Vis. 2010 Jul 13;16:1292-303. Mol Vis. 2010. PMID: 20664703 Free PMC article.
De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm.
Aggarwala V, Ganguly A, Voight BF. Aggarwala V, et al. Among authors: ganguly a. BMC Genomics. 2017 Feb 14;18(1):155. doi: 10.1186/s12864-017-3522-z. BMC Genomics. 2017. PMID: 28193182 Free PMC article.
Enhanced sensitivity for detection of low-level germline mosaic RB1 mutations in sporadic retinoblastoma cases using deep semiconductor sequencing.
Chen Z, Moran K, Richards-Yutz J, Toorens E, Gerhart D, Ganguly T, Shields CL, Ganguly A. Chen Z, et al. Among authors: ganguly t, ganguly a. Hum Mutat. 2014 Mar;35(3):384-91. doi: 10.1002/humu.22488. Epub 2013 Dec 20. Hum Mutat. 2014. PMID: 24282159 Free PMC article.
Recent advances in retinoblastoma genetic research.
Nichols KE, Walther S, Chao E, Shields C, Ganguly A. Nichols KE, et al. Among authors: ganguly a. Curr Opin Ophthalmol. 2009 Sep;20(5):351-5. doi: 10.1097/ICU.0b013e32832f7f25. Curr Opin Ophthalmol. 2009. PMID: 19587599 Review.
Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma.
Ewens KG, Lalonde E, Richards-Yutz J, Shields CL, Ganguly A. Ewens KG, et al. Among authors: ganguly a. BMC Cancer. 2018 Nov 26;18(1):1172. doi: 10.1186/s12885-018-5079-x. BMC Cancer. 2018. PMID: 30477459 Free PMC article.
Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.
Suchi M, MacMullen CM, Thornton PS, Adzick NS, Ganguly A, Ruchelli ED, Stanley CA. Suchi M, et al. Among authors: ganguly a. Mod Pathol. 2006 Jan;19(1):122-9. doi: 10.1038/modpathol.3800497. Mod Pathol. 2006. PMID: 16357843
Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.
Ferrara CT, Boodhansingh KE, Paradies E, Fiermonte G, Steinkrauss LJ, Topor LS, Quintos JB, Ganguly A, De Leon DD, Palmieri F, Stanley CA. Ferrara CT, et al. Among authors: ganguly a. J Clin Endocrinol Metab. 2017 Mar 1;102(3):942-949. doi: 10.1210/jc.2016-3164. J Clin Endocrinol Metab. 2017. PMID: 27967291 Free PMC article.
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.
Kalish JM, Boodhansingh KE, Bhatti TR, Ganguly A, Conlin LK, Becker SA, Givler S, Mighion L, Palladino AA, Adzick NS, De León DD, Stanley CA, Deardorff MA. Kalish JM, et al. Among authors: ganguly a. J Med Genet. 2016 Jan;53(1):53-61. doi: 10.1136/jmedgenet-2015-103394. Epub 2015 Nov 6. J Med Genet. 2016. PMID: 26545876 Free PMC article.
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