Perez FA - Search Results

1

Prenatal diagnosis of Chudley-McCullough syndrome.

Chapman T, Perez FA, Ishak GE, Doherty D. Chapman T, et al. Among authors: perez fa. Am J Med Genet A. 2016 Sep;170(9):2426-30. doi: 10.1002/ajmg.a.37806. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27312216 Free PMC article.

2

Primary choriocarcinoma of the bilateral basal ganglia presenting in a teenaged male.

Perry BC, Perez FA, Nixon JN, Cole BL, Ishak G. Perry BC, et al. Among authors: perez fa. Radiol Case Rep. 2017 Jan 17;12(1):154-158. doi: 10.1016/j.radcr.2016.12.002. eCollection 2017 Mar. Radiol Case Rep. 2017. PMID: 28228901 Free PMC article.

3

Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome.

Wright JN, Rutledge J, Doherty D, Perez F. Wright JN, et al. AJNR Am J Neuroradiol. 2019 Dec;40(12):2154-2160. doi: 10.3174/ajnr.A6280. Epub 2019 Oct 24. AJNR Am J Neuroradiol. 2019. PMID: 31649160 Free PMC article.

4

Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.

Friederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto RP, Van Hove JLK. Friederich MW, et al. Among authors: perez fa. Mol Genet Metab. 2020 Mar;129(3):236-242. doi: 10.1016/j.ymgme.2019.12.013. Epub 2019 Dec 30. Mol Genet Metab. 2020. PMID: 31917109 Free PMC article.

5

Cerebellar Watershed Injury in Children.

Wright JN, Shaw DWW, Ishak G, Doherty D, Perez F. Wright JN, et al. AJNR Am J Neuroradiol. 2020 May;41(5):923-928. doi: 10.3174/ajnr.A6532. Epub 2020 Apr 23. AJNR Am J Neuroradiol. 2020. PMID: 32327437 Free PMC article.

6

Reply.

Wright JN, Shaw DWW, Ishak G, Perez FA, Doherty D. Wright JN, et al. Among authors: perez fa. AJNR Am J Neuroradiol. 2020 Aug;41(8):E61. doi: 10.3174/ajnr.A6673. Epub 2020 Jun 25. AJNR Am J Neuroradiol. 2020. PMID: 32586961 Free PMC article. No abstract available.

7

Deep medullary vein engorgement and superficial medullary vein engorgement: two patterns of perinatal venous stroke.

Khalatbari H, Wright JN, Ishak GE, Perez FA, Amlie-Lefond CM, Shaw DWW. Khalatbari H, et al. Among authors: perez fa. Pediatr Radiol. 2021 May;51(5):675-685. doi: 10.1007/s00247-020-04846-3. Epub 2020 Oct 22. Pediatr Radiol. 2021. PMID: 33090246 Review.

8

Changes to pediatric brain tumors in 2021 World Health Organization classification of tumors of the central nervous system.

Oztek MA, Noda SM, Romberg EK, Cole BL, Wright JN, Ishak GE, Perez FA. Oztek MA, et al. Among authors: perez fa. Pediatr Radiol. 2023 Mar;53(3):523-543. doi: 10.1007/s00247-022-05546-w. Epub 2022 Nov 9. Pediatr Radiol. 2023. PMID: 36348014 Review.

9

Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.

Smith JD, Hing AV, Clarke CM, Johnson NM, Perez FA, Park SS, Horst JA, Mecham B, Maves L, Nickerson DA; University of Washington Center for Mendelian Genomics; Cunningham ML. Smith JD, et al. Among authors: perez fa. Am J Hum Genet. 2014 Aug 7;95(2):235-40. doi: 10.1016/j.ajhg.2014.07.008. Am J Hum Genet. 2014. PMID: 25105228 Free PMC article.

10

Pediatric Central Diabetes Insipidus: Brain Malformations Are Common and Few Patients Have Idiopathic Disease.

Werny D, Elfers C, Perez FA, Pihoker C, Roth CL. Werny D, et al. Among authors: perez fa. J Clin Endocrinol Metab. 2015 Aug;100(8):3074-80. doi: 10.1210/jc.2015-1287. Epub 2015 Jun 1. J Clin Endocrinol Metab. 2015. PMID: 26030323

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