Libe Gradstein
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View article: Best Disease: Global Mutations Review, Genotype–Phenotype Correlation, and Prevalence Analysis in the Israeli Population
Best Disease: Global Mutations Review, Genotype–Phenotype Correlation, and Prevalence Analysis in the Israeli Population Open
This study represents the largest cohort of patients with Best disease reported in Israel and globally. The prevalence in Israel is akin to that in Denmark but is lower than that in the United States. Critical conserved domains within the …
View article: IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma Open
Genomic sequences residing within introns of few genes have been shown to act as enhancers affecting expression of neighboring genes. We studied an autosomal recessive phenotypic continuum of microphthalmia, anophthalmia and ocular colobom…
View article: Ocular manifestations among patients with congenital insensitivity to pain due to variants in <scp><i>PRDM12</i></scp> and <scp><i>SCN9A</i></scp> genes
Ocular manifestations among patients with congenital insensitivity to pain due to variants in <span><i>PRDM12</i></span> and <span><i>SCN9A</i></span> genes Open
Congenital insensitivity to pain (CIP) is a group of rare genetic disorders with a common characteristic of absent sensation to nociceptive pain. Here we present a series of six patients; three had a novel variant in the PRDM12 gene (group…
View article: <scp><i>PSMC1</i></scp> variant causes a novel neurological syndrome
<span><i>PSMC1</i></span> variant causes a novel neurological syndrome Open
Proteasome 26S, the eukaryotic proteasome, serves as the machinery for cellular protein degradation. It is composed of the 20S core particle and one or two 19S regulatory particles, composed of a base and a lid. To date, several human dise…
View article: A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3 Open
Six individuals of consanguineous Bedouin kindred presented at infancy with an autosomal recessive syndrome of severe global developmental delay, positive pyramidal signs, unique dysmorphism, skeletal abnormalities, and severe failure to t…
View article: The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences Open
Compared to albinism, the FHONDA syndrome appears to have a more narrow phenotypic spectrum, consisting of nonprogressive moderately to severely reduced VA, nystagmus, severe foveal hypoplasia, and misrouting. The co-occurrence of nystagmu…
View article: Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families Open
This study was conducted to identify the genetic basis of retinal dystrophies in consanguineous Pakistani families. We recruited two families with retinitis pigmentosa (RP) displaying visual difficulties, including nyctalopia and constrict…
View article: SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome Open
A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and…
View article: Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual
Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual Open
This is the first report of the mutation spectrum of a known adRP gene in the Israeli and Palestinian populations, leading to the identification of seven previously reported mutations and one novel mutation. Our study shows that RHO mutati…
View article: <i>CDC174</i>, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay
<i>CDC174</i>, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay Open
Siblings of non-consanguineous Jewish-Ethiopian ancestry presented with congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardi…