Fulton A - Search Results

1

Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.

Srivastava S, Gubbels CS, Dies K, Fulton A, Yu T, Sahin M. Srivastava S, et al. Among authors: fulton a. J Child Neurol. 2017 Aug;32(9):840-845. doi: 10.1177/0883073817711527. Epub 2017 May 25. J Child Neurol. 2017. PMID: 28545339 Free PMC article.

2

Vigabatrin can enhance electroretinographic responses in pigmented and albino rats.

Akula JD, Noonan ER, Di Nardo A, Favazza TL, Zhang N, Sahin M, Hansen RM, Fulton AB. Akula JD, et al. Among authors: fulton ab. Doc Ophthalmol. 2015 Aug;131(1):1-11. doi: 10.1007/s10633-015-9491-0. Epub 2015 Mar 12. Doc Ophthalmol. 2015. PMID: 25761928

3

Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy.

Hildebrandt C, Fulton A, Rodan LH. Hildebrandt C, et al. Among authors: fulton a. Am J Med Genet A. 2021 Feb;185(2):555-560. doi: 10.1002/ajmg.a.61969. Epub 2020 Nov 10. Am J Med Genet A. 2021. PMID: 33170561

4

Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.

Olson HE, Costantini JG, Swanson LC, Kaufmann WE, Benke TA, Fulton AB, Hansen R, Poduri A, Heidary G. Olson HE, et al. Among authors: fulton ab. Dev Med Child Neurol. 2021 Nov;63(11):1308-1315. doi: 10.1111/dmcn.14908. Epub 2021 May 24. Dev Med Child Neurol. 2021. PMID: 34028805 Free PMC article.

5

Identical twins with Cohen syndrome.

North KN, Fulton AB, Whiteman DA. North KN, et al. Among authors: fulton ab. Am J Med Genet. 1995 Jul 31;58(1):54-8. doi: 10.1002/ajmg.1320580112. Am J Med Genet. 1995. PMID: 7573157

6

X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.

Anselm IA, Alkuraya FS, Salomons GS, Jakobs C, Fulton AB, Mazumdar M, Rivkin M, Frye R, Poussaint TY, Marsden D. Anselm IA, et al. Among authors: fulton ab. J Inherit Metab Dis. 2006 Feb;29(1):214-9. doi: 10.1007/s10545-006-0123-4. J Inherit Metab Dis. 2006. PMID: 16601897 Free PMC article.

7

The genetics and ocular findings of Alagille syndrome.

Kim BJ, Fulton AB. Kim BJ, et al. Semin Ophthalmol. 2007 Oct-Dec;22(4):205-10. doi: 10.1080/08820530701745108. Semin Ophthalmol. 2007. PMID: 18097983 Review.

8

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA. Consugar MB, et al. Among authors: fulton ab. Genet Med. 2015 Apr;17(4):253-261. doi: 10.1038/gim.2014.172. Epub 2014 Nov 20. Genet Med. 2015. PMID: 25412400 Free PMC article.

9

Migraine photophobia originating in cone-driven retinal pathways.

Noseda R, Bernstein CA, Nir RR, Lee AJ, Fulton AB, Bertisch SM, Hovaguimian A, Cestari DM, Saavedra-Walker R, Borsook D, Doran BL, Buettner C, Burstein R. Noseda R, et al. Among authors: fulton ab. Brain. 2016 Jul;139(Pt 7):1971-86. doi: 10.1093/brain/aww119. Epub 2016 May 17. Brain. 2016. PMID: 27190022 Free PMC article.

10

The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.

Men CJ, Bujakowska KM, Comander J, Place E, Bedoukian EC, Zhu X, Leroy BP, Fulton AB, Pierce EA. Men CJ, et al. Among authors: fulton ab. Mol Vis. 2017 Oct 10;23:695-706. eCollection 2017. Mol Vis. 2017. PMID: 29062221 Free PMC article.

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