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Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV. Reis LM, et al. Among authors: maheshwari m. J Med Genet. 2023 Apr;60(4):368-379. doi: 10.1136/jmg-2022-108646. Epub 2022 Jul 26. J Med Genet. 2023. PMID: 35882526 Free PMC article.
Novel Genetic Diagnoses in Septo-Optic Dysplasia.
Reis LM, Seese S, Maheshwari M, Basel D, Weik L, McCarrier J, University Of Washington Center For Mendelian Genomics, Semina EV. Reis LM, et al. Among authors: maheshwari m. Genes (Basel). 2022 Jun 28;13(7):1165. doi: 10.3390/genes13071165. Genes (Basel). 2022. PMID: 35885948 Free PMC article.
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.
Schilter KF, Steiner JE, Demos W, Maheshwari M, Prokop JW, Worthey E, Drolet BA, Siegel DH. Schilter KF, et al. Among authors: maheshwari m. Am J Med Genet A. 2017 Sep;173(9):2557-2561. doi: 10.1002/ajmg.a.38258. Epub 2017 Jul 7. Am J Med Genet A. 2017. PMID: 28686325 Free PMC article.
Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature.
Siegel DH, Tefft KA, Kelly T, Johnson C, Metry D, Burrows P, Pope E, Cordisco M, Holland KE, Maheshwari M, Keith P, Garzon M, Hess C, Frieden IJ, Fullerton HJ, Drolet BA. Siegel DH, et al. Among authors: maheshwari m. Stroke. 2012 Jun;43(6):1672-4. doi: 10.1161/STROKEAHA.112.650952. Epub 2012 Mar 22. Stroke. 2012. PMID: 22442177 Review.
Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry).
Bayer ML, Frommelt PC, Blei F, Breur JM, Cordisco MR, Frieden IJ, Goddard DS, Holland KE, Krol AL, Maheshwari M, Metry DW, Morel KD, North PE, Pope E, Shieh JT, Southern JF, Wargon O, Siegel DH, Drolet BA. Bayer ML, et al. Among authors: maheshwari m. Am J Cardiol. 2013 Dec 15;112(12):1948-52. doi: 10.1016/j.amjcard.2013.08.025. Epub 2013 Sep 28. Am J Cardiol. 2013. PMID: 24079520 Free PMC article.
Natural history of PHACE syndrome: A survey of adults with PHACE.
Stefanko NS, Cossio ML, Powell J, Blei F, Davies OMT, Frieden IJ, Garzon MC, Lauren CT, Maheshwari M, McCuaig CC, Metry D, Salman S, Drolet BA, Siegel DH. Stefanko NS, et al. Among authors: maheshwari m. Pediatr Dermatol. 2019 Sep;36(5):618-622. doi: 10.1111/pde.13871. Epub 2019 Jun 20. Pediatr Dermatol. 2019. PMID: 31222913
389 results