Levin AV - Search Results

1

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.

Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA. Suzuki T, et al. Among authors: levin av. Nat Genet. 2002 Mar;30(3):321-4. doi: 10.1038/ng835. Epub 2002 Feb 11. Nat Genet. 2002. PMID: 11836498

2

Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.

Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, Regueiro JR, Russo C, Uyama E, Vierimaa O, Spritz RA. Karim MA, et al. Am J Med Genet. 2002 Feb 15;108(1):16-22. Am J Med Genet. 2002. PMID: 11857544

3

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Kim HG, et al. Among authors: levin av. Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012.05.005. Epub 2012 Jul 5. Am J Hum Genet. 2012. PMID: 22770980 Free PMC article.

4

Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?

Siegel-Bartlet J, Levin A, Teebi AS, Kennedy SJ. Siegel-Bartlet J, et al. J Med Genet. 2002 Feb;39(2):145-8. doi: 10.1136/jmg.39.2.145. J Med Genet. 2002. PMID: 11836368 Free PMC article. No abstract available.

5

No evidence for locus heterogeneity in Knobloch syndrome.

Aldahmesh MA, Khan AO, Mohamed JY, Levin AV, Wuthisiri W, Lynch S, McCreery K, Alkuraya FS. Aldahmesh MA, et al. Among authors: levin av. J Med Genet. 2013 Aug;50(8):565-6. doi: 10.1136/jmedgenet-2013-101755. Epub 2013 May 10. J Med Genet. 2013. PMID: 23667181 No abstract available.

6

Genetics of the anterior segment dysgenesis.

Paredes DI, Capasso JE, Wyman CS, Levin AV. Paredes DI, et al. Among authors: levin av. Taiwan J Ophthalmol. 2023 Jul 18;13(4):500-504. doi: 10.4103/tjo.TJO-D-23-00062. eCollection 2023 Oct-Dec. Taiwan J Ophthalmol. 2023. PMID: 38249510 Free PMC article. Review.

7

Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease.

Cevik S, Wangtiraumnuay N, Van Schelvergem K, Tsukikawa M, Capasso J, Biswas SB, Bodt B, Levin AV, Biswas-Fiss E. Cevik S, et al. Among authors: levin av. Mol Vis. 2023 Oct 25;29:217-233. eCollection 2023. Mol Vis. 2023. PMID: 38222458 Free PMC article.

8

Retinal hemorrhage variation in inertial versus contact head injuries.

Sokoloff M, Feldman KW, Levin AV, Rockter A, Armijo-Garcia V, Musick M, Weeks K, Haney SB, Marinello M, Herman BE, Frazier TN, Carroll CL, Hymel KP; Pediatric Brain Injury Research Network (PediBIRN) Investigators. Sokoloff M, et al. Among authors: levin av. Child Abuse Negl. 2024 Mar;149:106606. doi: 10.1016/j.chiabu.2023.106606. Epub 2023 Dec 21. Child Abuse Negl. 2024. PMID: 38134727

9

Mutations in AGBL5 associated with Retinitis pigmentosa.

Paredes DI, Bello NR, Capasso JE, Procopio R, Levin AV. Paredes DI, et al. Among authors: levin av. Ophthalmic Genet. 2023 Dec 11:1-6. doi: 10.1080/13816810.2023.2291687. Online ahead of print. Ophthalmic Genet. 2023. PMID: 38078364

10

TWO CASES OF CRB1-RELATED RETINAL DYSTROPHY ASSOCIATED WITH RETINAL MASSES.

Bello NR, Pisuchpen P, de Guimarães TAC, Capasso JE, Levin AV. Bello NR, et al. Among authors: levin av. Retin Cases Brief Rep. 2023 Nov 1;17(6):714-718. doi: 10.1097/ICB.0000000000001269. Retin Cases Brief Rep. 2023. PMID: 37903307

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