Search Results - "LEGUM, C"

Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9 by ROZEN, P, SAMUEL, Z, SHOMRAT, R, LEGUM, C

“…The phenotypic spectrum of familial adenomatous polyposis (FAP) varies from the classic appearance of hundreds of adenomatous colonic polyps in the young adult…”
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Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer by ROZEN, P, SHOMRAT, R, STRUL, H, NAIMAN, T, KARMINSKY, N, LEGUM, C, ORR-URTREGER, A

“…Background & Aims: Israeli Jews of European birth, i.e., Ashkenazim, have the highest colorectal cancer incidence of any Israeli ethnic group. The I1307K APC…”
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Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins by RICHARD, I, BRENGUIER, L, KURNIT, D. M, LEFRANC, G, LEGUM, C, LOISELET, J, MERLINI, L, NIVELON-CHEVALLIER, A, OLLAGNON-ROMAN, E, RESTAGNO, G, TOPALOGLU, H, BECKMANN, J. S, DINCER, P, ROUDAUT, C, BADY, B, BURGUNDER, J.-M, CHEMALY, R, GARCIA, C. A, HALABY, G, JACKSON, C. E

“…Limb-girdle muscular dystrophies (LGMDs) are a group of neuromuscular diseases presenting great clinical heterogeneity. Mutations in CANP3, the gene encoding…”
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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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Novel mutations in the emerin gene in Israeli families by Nevo, Yoram, Ahituv, Sarit, Yaron, Yuval, Kedmi, Merav, Shomrat, Ruth, Legum, Cyril, Orr-Urtreger, Avi

“…Emery‐Dreifuss Muscular Dystrophy (EMD or EDMD) is a rare X‐linked recessive disorder, characterized by progressive muscle wasting and weakness, contractures,…”
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A case of Bartter's syndrome, gout and Becker's muscular dystrophy by Fishel, B, Zhukovsky, G, Legum, C, Jossiphov, J, Alon, M, Peer, G, Iaina, A, Nevo, Y

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Subclinical audiological findings in carriers of recessive genes for deafness by Berlin, M, Legum, C, Muchnik, C, Hildesheimer, M

“…The existence of subclinical signs in the hearing of carriers of recessive mutations for deafness has aroused much controversy in the literature. The present…”
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Colon cancer and molecular genetics: a short review by Legum, C

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A molecular survey of Israeli Duchenne and Becker muscular dystrophy patients by Legum, C, Shomrat, R, Glassner, M, Shiloh, Y

“…Duchenne (DMD) and Becker (BMD) muscular dystrophy are allelic X-linked recessive diseases caused by a mutation in the dystrophin gene located on the short arm…”
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Heterogeneity and pleiotropism in the Moebius syndrome by Legum, C, Godel, V, Nemet, P

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Prenatal diagnosis of Lesch-Nyhan syndrome: experience with three fetuses at risk by Zoref-Shani, E, Bromberg, Y, Goldman, B, Shaki, R, Barkai, G, Legum, C, Sperling, O

“…Our experience with the prenatal detection of the Lesch-Nyhan syndrome (LNS; hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency) in three…”
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Radiological aspects of the vertebral components of osteochondrodysplasias by Schorr, S, Legum, C

“…Analysis of the individual components of the vertebrae permits the radiologist to identify and understand the fundamental physio-pathologic growth mechanisms…”
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Use of dystrophin genomic and cDNA probes for solving difficulties in carrier detection and prenatal diagnosis of Duchenne muscular dystrophy by Shomrat, R, Driks, N, Legum, C, Shiloh, Y

“…Duchenne muscular dystrophy (DMD) results from mutations in the X-linked gene coding for the muscular protein dystrophin. The isolation of genomic and cDNA…”
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Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim by German, J, Bloom, D, Passarge, E, Fried, K, Goodman, R M, Katzenellenbogen, I, Laron, Z, Legum, C, Levin, S, Wahrman

“…An effort was made to identify all individuals with Bloom's syndrome living in Israel between September 1971 and September 1972. Each of the eight individuals…”
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Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients by Shomrat, R, Gluck, E, Legum, C, Shiloh, Y

“…Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations in the X-linked dystrophin gene. The most…”
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The correlation between the frequency of sister-chromatid exchange and human reproductive hormones by Joseph-Lerner, N, Fejgin, M, Ben-Nun, I, Legum, C, Amiel, A

“…Different frequencies of sister-chromatid exchanges (SCEs) during various stages of the menstrual cycle have previously been observed. We tested the hypothesis…”
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Private bone dysplasia in two Israeli families by Legum, C, Schorr, S, Katznelson, A

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Heterogeneity in adducted thumbs sequence by Moldavsky, M., Lerman-Sagie, T., Kutai, M., Legum, C., Harel, S.

“…We report on a boy with adducted thumbs, microcephaly, swallowing difficulties, hypotonia, and severe mental retardation, but without craniostenosis or…”
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The genetic mucopolysaccharidoses and mucolipidoses: review and comment by Legum, C P, Schorr, S, Berman, E R

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Bloom's syndrome in an Iranian Jewish male by Legum, C, Furman, N, Diamant, S

“…Bloom's syndrome is described in an Iranian Jewish male who subsequently developed myocardial disease. This may represent the first definitely non Ashkenazi…”
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