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Page 1
Copy number variations in cryptogenic cerebral palsy.
Segel R, Ben-Pazi H, Zeligson S, Fatal-Valevski A, Aran A, Gross-Tsur V, Schneebaum-Sender N, Shmueli D, Lev D, Perlberg S, Blumkin L, Deutsch L, Levy-Lahad E. Segel R, et al. Among authors: aran a. Neurology. 2015 Apr 21;84(16):1660-8. doi: 10.1212/WNL.0000000000001494. Epub 2015 Mar 27. Neurology. 2015. PMID: 25817843
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.
Aran A, Rosenfeld N, Jaron R, Renbaum P, Zuckerman S, Fridman H, Zeligson S, Segel R, Kohn Y, Kamal L, Kanaan M, Segev Y, Mazaki E, Rabinowitz R, Shen O, Lee M, Walsh T, King MC, Gulsuner S, Levy-Lahad E. Aran A, et al. Neurology. 2016 May 24;86(21):2016-24. doi: 10.1212/WNL.0000000000002704. Epub 2016 Apr 29. Neurology. 2016. PMID: 27164683 Free PMC article.
Brain calcifications and PCDH12 variants.
Nicolas G, Sanchez-Contreras M, Ramos EM, Lemos RR, Ferreira J, Moura D, Sobrido MJ, Richard AC, Lopez AR, Legati A, Deleuze JF, Boland A, Quenez O, Krystkowiak P, Favrole P, Geschwind DH, Aran A, Segel R, Levy-Lahad E, Dickson DW, Coppola G, Rademakers R, de Oliveira JRM. Nicolas G, et al. Among authors: aran a. Neurol Genet. 2017 Jul 26;3(4):e166. doi: 10.1212/NXG.0000000000000166. eCollection 2017 Aug. Neurol Genet. 2017. PMID: 28804758 Free PMC article.
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R. Langer Y, et al. Among authors: aran a. J Med Genet. 2018 Sep;55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15. J Med Genet. 2018. PMID: 29764912 Free article.
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
Yechieli M, Gulsuner S, Ben-Pazi H, Fattal A, Aran A, Kuzminsky A, Sagi L, Guttman D, Schneebaum Sender N, Gross-Tsur V, Klopstock T, Walsh T, Renbaum P, Zeligson S, Shemer Meiri L, Lev D, Shmueli D, Blumkin L, Lahad A, King MC, Levy EL, Segel R. Yechieli M, et al. Among authors: aran a. J Med Genet. 2022 Aug;59(8):759-767. doi: 10.1136/jmedgenet-2021-107884. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321325
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Vivante A, Ityel H, Pode-Shakked B, Chen J, Shril S, van der Ven AT, Mann N, Schmidt JM, Segel R, Aran A, Zeharia A, Staretz-Chacham O, Bar-Yosef O, Raas-Rothschild A, Landau YE, Lifton RP, Anikster Y, Hildebrandt F. Vivante A, et al. Among authors: aran a. Pediatr Nephrol. 2017 Dec;32(12):2273-2282. doi: 10.1007/s00467-017-3755-8. Epub 2017 Aug 5. Pediatr Nephrol. 2017. PMID: 28779239 Free PMC article.
77 results