Stavit A Shalev
Overview
Explore the profile of Stavit A Shalev including associated specialties, affiliations and a list of published articles.
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79
Citations
2010
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0
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Recent Articles
11.
Cohen-Barak E, Godsel L, Koetsier J, Hegazy M, Kushnir-Grinbaum D, Hammad H, et al.
J Invest Dermatol
. 2019 Aug;
140(3):556-567.e9.
PMID: 31465738
An effective epidermal barrier requires structural and functional integration of adherens junctions, tight junctions, gap junctions (GJ), and desmosomes. Desmosomes govern epidermal integrity while GJs facilitate small molecule transfer across...
12.
Cohen-Barak E, Danial-Farran N, Khayat M, Chervinsky E, Nevet J, Ziv M, et al.
JAMA Dermatol
. 2019 Feb;
155(4):498-500.
PMID: 30785604
No abstract available.
13.
Danial-Farran N, Brownstein Z, Gulsuner S, Tammer L, Khayat M, Aleme O, et al.
Eur J Hum Genet
. 2018 Aug;
26(12):1840-1847.
PMID: 30139988
For multiple generations, much of the Arab population of Northern Israel has lived in communities with consanguineous marriages and large families. These communities have been particularly cooperative and informative for...
14.
Sharkia R, Shalev S, Zalan A, Marom-David M, Watemberg N, Urquhart J, et al.
Am J Med Genet A
. 2017 Mar;
173(4):1051-1055.
PMID: 28328138
PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported....
15.
Graham Jr J, Zadeh N, Kelley M, Tan E, Liew W, Tan V, et al.
Am J Med Genet A
. 2016 May;
170(10):2632-7.
PMID: 27151206
Patients with KCNK9 imprinting syndrome demonstrate congenital hypotonia, variable cleft palate, normal MRIs and EEGs, delayed development, and feeding problems. Associated facial dysmorphic features include dolichocephaly with bitemporal narrowing, short...
16.
Spiegel R, Saada A, Flannery P, Burte F, Soiferman D, Khayat M, et al.
J Med Genet
. 2015 Nov;
53(2):127-31.
PMID: 26561570
Background: Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear genomes. Objective: To identify the causative genetic...
17.
Heimer G, Oz-Levi D, Eyal E, Edvardson S, Nissenkorn A, Ruzzo E, et al.
Eur J Paediatr Neurol
. 2015 Nov;
20(1):69-79.
PMID: 26542466
Background: TECPR2 was first described as a disease causing gene when the c.3416delT frameshift mutation was found in five Jewish Bukharian patients with similar features. It was suggested to constitute...
18.
Khayat M, Tilghman J, Chervinsky I, Zalman L, Chakravarti A, Shalev S
Am J Med Genet A
. 2015 Sep;
170A(1):176-82.
PMID: 26364997
Mutations in the PIGN gene involved in the glycosylphoshatidylinositol (GPI) anchor biosynthesis pathway cause Multiple Congenital Anomalies-Hypotonia-Seizures syndrome 1 (MCAHS1). The syndrome manifests developmental delay, hypotonia, and epilepsy, combined with...
19.
Mandel H, Cohen Katsanelson K, Khayat M, Chervinsky I, Vladovski E, Iancu T, et al.
Eur J Med Genet
. 2014 Oct;
57(11-12):607-12.
PMID: 25270050
Neuronal ceroid lipofuscinosis (NCL) refers to a growing heterogeneous group of neurodegenerative disorders characterized by lysosomal accumulation of abnormal autofluorescent material. NCLs are traditionally classified clinically according to their age...
20.
Straussberg R, Marom D, Sanado-Inbar E, Lakovsky Y, Horev G, Shalev S, et al.
J Child Neurol
. 2014 Sep;
30(4):490-5.
PMID: 25246298
Aicardi-Goutières syndrome is a genetic neurodegenerative disorder with clinical symptoms mimicking a congenital viral infection. Mutations in 6 genes are known to cause the disease: 3 prime repair exonuclease1, ribonucleases...