Libe Gradstein
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Explore the profile of Libe Gradstein including associated specialties, affiliations and a list of published articles.
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40
Citations
445
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Recent Articles
1.
Poleg T, Proskorovski-Ohayon R, Dolgin V, Hadar N, Safran A, Agam N, et al.
Clin Genet
. 2024 Nov;
107(3):348-353.
PMID: 39586739
Biallelic mutations in BRAT1 result in lethal neonatal rigidity and multifocal seizure syndrome and a milder neurodevelopmental disorder of cerebellar atrophy with or without seizures (NEDCAS, MIM 618056). Combining linkage...
2.
Shalom S, Ben-Yosef T, Sher I, Zag A, Rotenstreich Y, Poleg T, et al.
JAMA Ophthalmol
. 2024 May;
142(7):609-616.
PMID: 38753338
Importance: Data regarding the prevalence of various inherited retinal diseases (IRDs) are limited and vary across populations; moreover, nationwide prevalence studies may be limited to a specific IRD phenotype, potentially...
3.
Beryozkin A, Sher I, Ehrenberg M, Zur D, Newman H, Gradstein L, et al.
Invest Ophthalmol Vis Sci
. 2024 Feb;
65(2):39.
PMID: 38411968
Purpose: To review all reported disease-causing mutations in BEST1, perform genotype-phenotype correlation, and estimate disease prevalence in the Israeli population. Methods: Medical records of patients diagnosed with Best disease and...
4.
Dinur A, Buchbut O, Gradstein L, Elsana B, Freund O, Birk O, et al.
Rambam Maimonides Med J
. 2024 Jan;
15(1).
PMID: 38261349
Late-onset nasolacrimal duct obstruction (NLDO) as a result of inflammatory processes causing dacryo-stenosis is a common entity affecting mostly women. While a few mechanisms have been suggested as contributors to...
5.
Freund O, Elsana B, Agam N, Jean M, Safran A, Poleg T, et al.
Am J Med Genet A
. 2023 Aug;
191(11):2768-2774.
PMID: 37615310
Thirteen affected individuals of six generations of a single kindred presented with epiphora evident from infancy. Physical exam and Schirmer test revealed variable expression of tear deficiency, congenital punctal atresia,...
6.
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
Wormser O, Perez Y, Dolgin V, Kamali B, Tangeman J, Gradstein L, et al.
NPJ Genom Med
. 2023 Aug;
8(1):22.
PMID: 37580330
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...
7.
Gombosh M, Yogev Y, Hadar N, Proskorovski-Ohayon R, Aharoni S, Gradstein L, et al.
Clin Genet
. 2023 Jun;
104(5):571-576.
PMID: 37308324
Knudson's "two hit" hypothesis, mostly associated with cancer, relates to a primary heterozygous germline mutation complemented by a somatic mutation in the second allele. When the somatic "second hit" is...
8.
Elsana B, Imtirat A, Yagev R, Gradstein L, Majdalani P, Iny O, et al.
Am J Med Genet A
. 2022 Sep;
188(12):3463-3468.
PMID: 36111846
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;...
9.
Aharoni S, Proskorovski-Ohayon R, Krishnan R, Yogev Y, Wormser O, Hadar N, et al.
Clin Genet
. 2022 Jul;
102(4):324-332.
PMID: 35861243
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...
10.
Halperin D, Agam N, Hallak M, Feinstein M, Drabkin M, Yogev Y, et al.
Clin Genet
. 2022 Apr;
102(2):123-129.
PMID: 35443069
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...