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International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.
Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R; HHT Foundation International - Guidelines Working Group. Faughnan ME, et al. Among authors: ganguly a. J Med Genet. 2011 Feb;48(2):73-87. doi: 10.1136/jmg.2009.069013. Epub 2009 Jun 23. J Med Genet. 2011. PMID: 19553198 Free article.
SMAD4 mutations found in unselected HHT patients.
Gallione CJ, Richards JA, Letteboer TG, Rushlow D, Prigoda NL, Leedom TP, Ganguly A, Castells A, Ploos van Amstel JK, Westermann CJ, Pyeritz RE, Marchuk DA. Gallione CJ, et al. Among authors: ganguly a. J Med Genet. 2006 Oct;43(10):793-7. doi: 10.1136/jmg.2006.041517. Epub 2006 Apr 13. J Med Genet. 2006. PMID: 16613914 Free PMC article.
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME, Ganguly A, Garvie J, Henderson K, Kini U, Leedom T, Ludman M, Lux A, Maisenbacher M, Mazzucco S, Olivieri C, Ploos van Amstel JK, Prigoda-Lee N, Pyeritz RE, Reardon W, Vandezande K, Waldman JD, White RI Jr, Williams CA, Marchuk DA. Gallione C, et al. Among authors: ganguly a. Am J Med Genet A. 2010 Feb;152A(2):333-9. doi: 10.1002/ajmg.a.33206. Am J Med Genet A. 2010. PMID: 20101697
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Mao R, Krautscheid P, Graham RP, Ganguly A, Shankar S, Ferber M, Hegde M; ACMG Laboratory Quality Assurance Committee. Mao R, et al. Among authors: ganguly a. Genet Med. 2021 Oct;23(10):1807-1817. doi: 10.1038/s41436-021-01207-9. Epub 2021 Jun 17. Genet Med. 2021. PMID: 34140662 Free article.
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
Hegde M, Ferber M, Mao R, Samowitz W, Ganguly A; Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee. Hegde M, et al. Among authors: ganguly a. Genet Med. 2014 Jan;16(1):101-16. doi: 10.1038/gim.2013.166. Epub 2013 Dec 5. Genet Med. 2014. PMID: 24310308 Free article.
Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.
Duffy KA, Cielo CM, Cohen JL, Gonzalez-Gandolfi CX, Griff JR, Hathaway ER, Kupa J, Taylor JA, Wang KH, Ganguly A, Deardorff MA, Kalish JM. Duffy KA, et al. Among authors: ganguly a. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):693-708. doi: 10.1002/ajmg.c.31740. Epub 2019 Aug 30. Am J Med Genet C Semin Med Genet. 2019. PMID: 31469230 Free PMC article.
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM. Sheppard SE, et al. Among authors: ganguly a. Genet Med. 2019 Nov;21(11):2644-2649. doi: 10.1038/s41436-019-0551-9. Epub 2019 May 31. Genet Med. 2019. PMID: 31147633 Free PMC article.
1,064 results