Search Results - "Magal, N"

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN by Maydan, Gal, Noyman, Iris, Har-Zahav, Adi, Neriah, Ziva Ben, Pasmanik-Chor, Metsada, Yeheskel, Adva, Albin-Kaplanski, Adi, Maya, Idit, Magal, Nurit, Birk, Efrat, Simon, Amos J, Halevy, Ayelet, Rechavi, Gideon, Shohat, Mordechai, Straussberg, Rachel, Basel-Vanagaite, Lina

“…This study reports on a hitherto undescribed autosomal recessive syndrome characterised by dysmorphic features and multiple congenital anomalies together with…”
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Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type by Reinstein, E., Drasinover, V., Lotan, R., Gal‐Tanamy, M., Bolocan Nachman, I., Eyal, E., Jaber, L., Magal, N., Shohat, M.

“…Arthrogryposis multiplex congenita (AMC) is heterogeneous group of disorders characterized by non‐progressive joint contractures from birth that involve more…”
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The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation by Basel-Vanagaite, L, Attia, R, Yahav, M, Ferland, R J, Anteki, L, Walsh, C A, Olender, T, Straussberg, R, Magal, N, Taub, E, Drasinover, V, Alkelai, A, Bercovich, D, Rechavi, G, Simon, A J, Shohat, M

“…Background: The molecular basis of autosomal recessive non-syndromic mental retardation (NSMR) is poorly understood, mostly owing to heterogeneity and absence…”
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Founder mutation for Huntington disease in Caucasus Jews by Melamed, O., Behar, D. M., Bram, C., Magal, N., Pras, E., Reznik-Wolf, H., Borochowitz, Z. U., Davidov, B., Mor-Cohen, R., Baris, H. N.

“…Huntington disease (HD), an autosomal dominant disorder involving HTT, is characterized by chorea, psychiatric illness and cognitive decline. Diagnosis and age…”
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High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel by Borck, G, Rainshtein, L, Hellman-Aharony, S, Volk, AE, Friedrich, K, Taub, E, Magal, N, Kanaan, M, Kubisch, C, Shohat, M, Basel-Vanagaite, L

“…Borck G, Rainshtein L, Hellman‐Aharony S, Volk AE, Friedrich K, Taub E, Magal N, Kanaan M, Kubisch C, Shohat M, Basel‐Vanagaite L. High frequency of…”
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Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype by Avrahami, L, Maas, S, Pasmanik-Chor, M, Rainshtein, L, Magal, N, Smitt, JHS, Van Marle, J, Shohat, M, Basel-Vanagaite, L

“…Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has…”
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Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis by Shohat, M, Magal, N, Shohat, T, Chen, X, Dagan, T, Mimouni, A, Danon, Y, Lotan, R, Ogur, G, Sirin, A, Schlezinger, M, Halpern, G J, Schwabe, A, Kastner, D, Rotter, J I, Fischel-Ghodsian, N

“…Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by recurrent attacks of inflammation of serosal membranes. Amyloidosis is…”
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Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups by Stoffman, N, Magal, N, Shohat, T, Lotan, R, Koman, S, Oron, A, Danon, Y, Halpern, G J, Lifshitz, Y, Shohat, M

“…Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by recurrent attacks of inflammation of serosal membranes. Amyloidosis…”
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Familial Mediterranean Fever: Effects of Genotype and Ethnicity on Inflammatory Attacks and Amyloidosis by Mimouni, Aviva, Magal, Nurit, Stoffman, Nava, Shohat, Tamy, Minasian, Ara, Krasnov, Michael, Halpern, Gabrielle J, Rotter, Jerome I, Fischel-Ghodsian, Nathan, Danon, Yehuda L, Shohat, Mordechai

“…The gene causing familial Mediterranean fever (FMF)-an autosomal recessive disease characterized by recurrent short episodes of fever associated most commonly…”
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Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity by Basel-Vanagaite, L, Alkelai, A, Straussberg, R, Magal, N, Inbar, D, Mahajna, M, Shohat, M

“…Objective: To identify and clinically evaluate four consanguineous families of Israeli Arab origin with non-syndromic mental retardation (NSMR), comprising a…”
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A novel allele in the promoter region of the human serotonin transporter gene by MICHAELOVSKY, E, FRISCH, A, ROCKAH, R, PELEG, L, MAGAL, N, SHOHAT, M, WEIZMAN, R

“…The human serotonin transporter (hSERT) gene is a promising candidate for mediating the genetic susceptibility for various psychiatric conditions such as mood…”
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Infantile bilateral striatal necrosis maps to chromosome 19q by BASEL-VANAGAITE, L, STRAUSSBERG, R, OVADIA, H, KAPLAN, A, MAGAL, N, SHORER, Z, SHALEV, H, WALSH, C, SHOHAT, M

“…Infantile bilateral striatal necrosis (IBSN) encompasses several syndromes of bilateral symmetric degeneration of the caudate nucleus, putamen, and globus…”
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Replicative senescence in organ transplantation—mechanisms and significance by Chkhotua, A, Shohat, M, Tobar, A, Magal, N, Kaganovski, E, Shapira, Z, Yussim, A

“…In the past two decades, transplantation has become a preferred modality of treatment of end-stage failure of vital organs. Currently, with the significant…”
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A putative new locus for an autosomal recessive cerebellar ataxia syndrome on chromosome 22q11 by Baris, H, Legum, C, Levin, L, Magal, N, Drasinover, V, Tan, W-H, Halpern, G J, Shohat, T, Shohat, M

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The tomato gene for the chloroplastic Cu, Zn superoxide dismutase: regulation of expression imposed in transgenic tobacco plants by a short promoter by Kardish, N. (Weizmann Inst. of Science, Rehovot (Israel). Dept. of Plant Genetics), Magal, N, Aviv, D, Galun, E

“…The chloroplastic Cu,Zn superoxide dismutase (SOD) has an important role in the defense against damage by oxygen radicals in the chloroplasts. Here, for the…”
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Autosomal dominant nephritis with renal failure of non-Alport type: clinical and molecular studies by Ilan, T, Shohat, T, Tobar, A, Magal, N, Yahav, M, Halpern, G J, Rechavi, G, Shohat, M

“…Familial nephritis is a heterogeneous group of disorders caused by several genetic conditions such as Alport syndrome, glomerulonephritic syndromes, and…”
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Amyloidosis in Familial Mediterranean Fever Is Associated with a Specific Ancestral Haplotype in the MEFV Locus by Shohat, M., Lotan, R., Magal, N., Danon, Y., Ogur, G., Tokguz, G., Schlezinger, M., Schwabe, A., Halpern, G., Fischel-Ghodsian, N., Kastner, D., Shohat, T., Rotter, J.I.

“…Familial Mediterranean fever (FMF) is a recessive disease characterized by recurrent attacks of inflammation of serosal membranes, and the gene responsible,…”
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Prenatal diagnosis of twin zygosity by DNA 'fingerprint' analysis by Appelman, Z, Manor, M, Magal, N, Caspi, B, Shohat, M, Blickstein, I

“…A twin pregnancy with one hydrocephalic fetus with oligohydramnios is presented. Sonographic evaluation could not exclude monochorionicity. Before considering…”
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Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel by Toledano-Alhadef, Hagit, Basel-Vanagaite, Lina, Magal, Nurit, Davidov, Bella, Ehrlich, Sophie, Drasinover, Valerie, Taub, Ellen, Halpern, Gabrielle J., Ginott, Nathan, Shohat, Mordechai

“…Fragile-X syndrome is caused by an unstable CGG trinucleotide repeat in the FMR1 gene at Xq27. Intermediate alleles (51–200 repeats) can undergo expansion to…”
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Methylenetetrahydrofolate reductase genotypes and early-onset coronary artery disease by MAGER, A, LALEZARI, S, SHOHAT, T, BIRNBAUM, Y, ADLER, Y, MAGAL, N, SHOHAT, M

“…Homozygosity for the common (677C-->T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with hyperhomocysteinemia, but there is…”
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