Moshe Frydman
Overview
Explore the profile of Moshe Frydman including associated specialties, affiliations and a list of published articles.
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Articles
42
Citations
1166
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0
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Recent Articles
1.
Eliyahu A, Barel O, Greenbaum L, Hoffer G, Goldberg Y, Raas-Rothschild A, et al.
Front Pediatr
. 2022 Apr;
10:844845.
PMID: 35433545
The role of lysine methyltransferases (KMTs) and demethylases (KDMs) in the regulation of chromatin modification is well-established. Recently, deleterious heterozygous variants in were implicated in individuals with intellectual disability (ID)...
2.
Brownstein Z, Gulsuner S, Walsh T, Martins F, Taiber S, Isakov O, et al.
Clin Genet
. 2020 Oct;
98(4):353-364.
PMID: 33111345
Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities of...
3.
Shen J, Oza A, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, et al.
Genet Med
. 2019 Jun;
21(11):2442-2452.
PMID: 31160754
Purpose: Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and c.109G>A/p.Val37Ile in GJB2 are controversial. Therefore, an expert consensus...
4.
Briggs T, Rice G, Adib N, Ades L, Barete S, Baskar K, et al.
J Clin Immunol
. 2016 Apr;
36(5):529-530.
PMID: 27125509
No abstract available.
5.
Briggs T, Rice G, Adib N, Ades L, Barete S, Baskar K, et al.
J Clin Immunol
. 2016 Mar;
36(3):220-34.
PMID: 26951490
Purpose: Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in...
6.
Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, et al.
Hum Mutat
. 2015 Jul;
36(11):1052-63.
PMID: 26178382
Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive...
7.
Vodo D, Sarig O, Peled A, Frydman M, Greenberger S, Sprecher E
Exp Dermatol
. 2015 Jun;
24(11):885-7.
PMID: 26121527
No abstract available.
8.
Weitzman E, Pappo O, Weiss P, Frydman M, Haviv-Yadid Y, Ben Ari Z
World J Gastroenterol
. 2014 Dec;
20(46):17656-60.
PMID: 25516681
Wilson's disease (WD) is an autosomal recessive inherited disorder of hepatic copper metabolism. WD can be present in different clinical conditions, with the most common ones being liver disease and...
9.
Sokolov M, Brownstein Z, Frydman M, Avraham K
J Basic Clin Physiol Pharmacol
. 2014 Aug;
25(3):289-92.
PMID: 25153233
Background: Connexin 26 (GJB2) mutations are associated with various types of hearing loss, either without associated symptoms or with skin disease, constituting a form of syndromic hearing loss. These mutations...
10.
Marttila M, Lehtokari V, Marston S, Nyman T, Barnerias C, Beggs A, et al.
Hum Mutat
. 2014 Apr;
35(7):779-90.
PMID: 24692096
Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap myopathy, core-rod myopathy, congenital fiber-type disproportion, distal arthrogryposes, and Escobar syndrome. We correlate the clinical picture...