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Year Number of Results
2004 1
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17 results

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Page 1
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA. Gunay-Aygun M, et al. Among authors: font montgomery e. Mol Genet Metab. 2010 Feb;99(2):160-73. doi: 10.1016/j.ymgme.2009.10.010. Epub 2009 Oct 20. Mol Genet Metab. 2010. PMID: 19914852 Free PMC article.
Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension.
Ramaswami U, Font-Montgomery E, Goker-Alpan O, Ortiz D, Sanchez-Valle A, Whitley CB, Wilcox WR, Jiang H, Lawson LA, Vosk J, Yang H, Hopkin RJ. Ramaswami U, et al. Among authors: font montgomery e. Mol Genet Metab. 2025 May;145(1):109102. doi: 10.1016/j.ymgme.2025.109102. Epub 2025 Apr 2. Mol Genet Metab. 2025. PMID: 40215726 Free article. Clinical Trial.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I. Acharya A, et al. Among authors: font montgomery e. J Med Genet. 2022 Jul;59(7):669-677. doi: 10.1136/jmedgenet-2021-107871. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321324 Review.
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF).
Turkbey B, Ocak I, Daryanani K, Font-Montgomery E, Lukose L, Bryant J, Tuchman M, Mohan P, Heller T, Gahl WA, Choyke PL, Gunay-Aygun M. Turkbey B, et al. Among authors: font montgomery e. Pediatr Radiol. 2009 Feb;39(2):100-11. doi: 10.1007/s00247-008-1064-x. Epub 2008 Dec 17. Pediatr Radiol. 2009. PMID: 19089418 Free PMC article. Review.
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.
Kennis MGP, Rots D, Bouman A, Ockeloen CW, Boelen C, Marcelis CLM, de Vries BBA, Elting MW, Waisfisz Q, Suri M, Font-Montgomery E, Peck DS, Donnelly DE, Rogers RC, Richardson R, Caumes R, Chaumette B, Louveau C, Sallevelt SCEH, Maas SM, Smits JJ, van Haelst MM, Levy RJ, Stewart H, Loeys BL, Pfundt R, Kleefstra T, Snijders Blok L. Kennis MGP, et al. Among authors: font montgomery e. Eur J Hum Genet. 2025 Aug;33(8):980-988. doi: 10.1038/s41431-025-01832-x. Epub 2025 Mar 31. Eur J Hum Genet. 2025. PMID: 40164730 Free PMC article.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM; UW Center for Mendelian Genomics; Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA. Shimada S, et al. Among authors: font montgomery e. J Med Genet. 2022 Jul 5:jmedgenet-2021-108177. doi: 10.1136/jmedgenet-2021-108177. Online ahead of print. J Med Genet. 2022. PMID: 35790351 Free PMC article.
Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.
O'Brien K, Font-Montgomery E, Lukose L, Bryant J, Piwnica-Worms K, Edwards H, Riney L, Garcia A, Daryanani K, Choyke P, Mohan P, Heller T, Gahl WA, Gunay-Aygun M. O'Brien K, et al. Among authors: font montgomery e. J Pediatr Gastroenterol Nutr. 2012 Jan;54(1):83-9. doi: 10.1097/MPG.0b013e318228330c. J Pediatr Gastroenterol Nutr. 2012. PMID: 21694639 Free PMC article. Clinical Trial.
17 results