18 results for author:"Ben-Zeev B." in Literature citations
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| Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Oz-Levi D., Ben-Zeev B., Ruzzo E.K., Hitomi Y., Gelman A., Pelak K., Anikster Y., Reznik-Wolf H., Bar-Joseph I., Olender T. et al. Am. J. Hum. Genet. 91:1065-1072(2012) · Mapped (4) |
| MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome. Zung A., Petek E., Ben-Zeev B., Schwarzbraun T., Ben-Yehoshua S.J. Am. J. Med. Genet. A 155A:2469-2472(2011) · Mapped (3) |
| Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. Kaufmann R., Straussberg R., Mandel H., Fattal-Valevski A., Ben-Zeev B., Naamati A., Shaag A., Zenvirt S., Konen O., Mimouni-Bloch A. et al. Am. J. Hum. Genet. 87:667-670(2010) · UniProtKB (1) · Mapped (2) |
| Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Agamy O., Ben Zeev B., Lev D., Marcus B., Fine D., Su D., Narkis G., Ofir R., Hoffmann C., Leshinsky-Silver E. et al. Am. J. Hum. Genet. 87:538-544(2010) · UniProtKB (1) |
| KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function. Reichold M., Zdebik A.A., Lieberer E., Rapedius M., Schmidt K., Bandulik S., Sterner C., Tegtmeier I., Penton D., Baukrowitz T. et al. Proc. Natl. Acad. Sci. U.S.A. 107:14490-14495(2010) · Mapped (9) |
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Valente E.M., Logan C.V., Mougou-Zerelli S., Lee J.H., Silhavy J.L., Brancati F., Iannicelli M., Travaglini L., Romani S., Illi B. et al. |
| Epilepsy in Rett syndrome---the experience of a National Rett Center. Nissenkorn A., Gak E., Vecsler M., Reznik H., Menascu S., Ben Zeev B. Epilepsia 51:1252-1258(2010) · Mapped (15) |
| Updating the profile of C-terminal MECP2 deletions in Rett syndrome. Bebbington A., Percy A., Christodoulou J., Ravine D., Ho G., Jacoby P., Anderson A., Pineda M., Ben Zeev B., Bahi-Buisson N. et al. J. Med. Genet. 47:242-248(2010) · Mapped (15) |
| Expanding CEP290 mutational spectrum in ciliopathies. Travaglini L., Brancati F., Attie-Bitach T., Audollent S., Bertini E., Kaplan J., Perrault I., Iannicelli M., Mancuso B., Rigoli L. et al. Am. J. Med. Genet. A 149A:2173-2180(2009) · Mapped (4) |
| Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Russo S., Marchi M., Cogliati F., Bonati M.T., Pintaudi M., Veneselli E., Saletti V., Balestrini M., Ben-Zeev B., Larizza L. Neurogenetics 10:241-250(2009) · UniProtKB (1) |
| Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Bebbington A., Anderson A., Ravine D., Fyfe S., Pineda M., de Klerk N., Ben-Zeev B., Yatawara N., Percy A., Kaufmann W.E. et al. Neurology 70:868-875(2008) · Mapped (15) |
| Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Tein I., Elpeleg O., Ben-Zeev B., Korman S.H., Lossos A., Lev D., Lerman-Sagie T., Leshinsky-Silver E., Vockley J., Berry G.T. et al. Mol. Genet. Metab. 93:179-189(2008) · Mapped (5) |
| Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency. Hoffmann C., Ben-Zeev B., Anikster Y., Nissenkorn A., Brand N., Kuint J., Kushnir T. J. Child Neurol. 22:1214-1221(2007) · Mapped (3) |
| Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients. Petel-Galil Y., Ben-Zeev B., Greenbaum I., Vecsler M., Goldman B., Lohi H., Minassian B.A., Gak E. J. Med. Genet. 44:e56-e56(2007) · Mapped (15) |
| Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Yamada K., Chan W.M., Andrews C., Bosley T.M., Sener E.C., Zwaan J.T., Mullaney P.B., Ozturk B.T., Akarsu A.N., Sabol L.J. et al. Invest. Ophthalmol. Vis. Sci. 45:2218-2223(2004) · Mapped (5) |
| Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. Ben-Zeev B., Levy-Nissenbaum E., Lahat H., Anikster Y., Shinar Y., Brand N., Gross-Tzur V., MacGregor D., Sidi R., Kleta R. et al. Hum. Genet. 111:214-218(2002) · UniProtKB (1) |
| Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Wallace R.H., Scheffer I.E., Barnett S., Richards M., Dibbens L., Desai R.R., Lerman-Sagie T., Lev D., Mazarib A., Brand N. et al. Am. J. Hum. Genet. 68:859-865(2001) · UniProtKB (1) |
| Glutaric aciduria type I in the Arab and Jewish communities in Israel. Anikster Y., Shaag A., Joseph A., Mandel H., Ben-Zeev B., Christensen E., Elpeleg O.N. Am. J. Hum. Genet. 59:1012-1018(1996) · UniProtKB (1) |