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Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.
Koutlas IG, Anbinder AL, Alshagroud R, Rodrigues Cavalcante AS, Al Kindi M, Crenshaw MM, Sapp JC, Kondolf H, Lindhurst MJ, Dudley JN, Johnston JJ, Ryan E, Rafferty K, Ganguly A, Biesecker LG. Koutlas IG, et al. Among authors: ganguly a. HGG Adv. 2020 Aug 14;1(1):100009. doi: 10.1016/j.xhgg.2020.100009. eCollection 2020 Oct 22. HGG Adv. 2020. PMID: 35047831 Free PMC article.
Erratum: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.
Koutlas IG, Anbinder AL, Alshagroud R, Rodrigues Cavalcante AS, Al Kindi M, Crenshaw MM, Sapp JC, Kondolf H, Lindhurst MJ, Dudley JN, Johnston JJ, Ryan E, Rafferty K, Ganguly A, Biesecker LG. Koutlas IG, et al. Among authors: ganguly a. HGG Adv. 2021 Oct 26;3(1):100062. doi: 10.1016/j.xhgg.2021.100062. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35051255 Free PMC article.
Molecular diagnosis of somatic overgrowth conditions: A single-center experience.
Lalonde E, Ebrahimzadeh J, Rafferty K, Richards-Yutz J, Grant R, Toorens E, Marie Rosado J, Schindewolf E, Ganguly T, Kalish JM, Deardorff MA, Ganguly A. Lalonde E, et al. Among authors: ganguly t, ganguly a. Mol Genet Genomic Med. 2019 Mar;7(3):e536. doi: 10.1002/mgg3.536. Epub 2019 Feb 13. Mol Genet Genomic Med. 2019. PMID: 30761771 Free PMC 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.
Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor.
MacFarland SP, Duffy KA, Bhatti TR, Bagatell R, Balamuth NJ, Brodeur GM, Ganguly A, Mattei PA, Surrey LF, Balis FM, Kalish JM. MacFarland SP, et al. Among authors: ganguly a. Pediatr Blood Cancer. 2018 Oct;65(10):e27296. doi: 10.1002/pbc.27296. Epub 2018 Jun 22. Pediatr Blood Cancer. 2018. PMID: 29932284 Free PMC article.
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.
Baker SW, Duffy KA, Richards-Yutz J, Deardorff MA, Kalish JM, Ganguly A. Baker SW, et al. Among authors: ganguly a. J Med Genet. 2021 Mar;58(3):178-184. doi: 10.1136/jmedgenet-2019-106498. Epub 2020 May 19. J Med Genet. 2021. PMID: 32430359 Free PMC article.
1,013 results