Výsledky vyhledávání - "Segev, Meyer"

Akademický článek

Postnatal Outcomes of Fetuses with Prenatal Diagnosis of 6–9.9 mm Pyelectasis

Autor: Sivan Farladansky-Gershnabel, Hadar Gluska, Segev Meyer, Maya Sharon-Weiner, Hanoch Schreiber, Shmuel Arnon, Ofer Markovitch

Publikováno v: Children, Vol 10, Iss 2, p 407 (2023)

Pyelectasis, also known as renal pelvic dilatation or hydronephrosis, is frequently found on fetal ultrasound. This study correlated prenatally-detected, moderate pyelectasis with postnatal outcomes. This retrospective, observational study was conduc

Externí odkaz: https://doaj.org/article/11f172a344304e0ea164c20003eb474f

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A unique

Autor: Prasanthi, Namburi, Samer, Khateb, Segev, Meyer, Tom, Bentovim, Rinki, Ratnapriya, Alisa, Khramushin, Anand, Swaroop, Ora, Schueler-Furman, Eyal, Banin, Dror, Sharon

Publikováno v: Molecular Vision

Purpose North Carolina macular dystrophy (NCMD) is an autosomal dominant maculopathy that is considered a non-progressive developmental disorder with variable expressivity. Our study aimed to clinically and genetically characterize macular dystrophy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1a358d9afc956ed9a446477c85acc510
https://pubmed.ncbi.nlm.nih.gov/32476814

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Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

Autor: Avigail Beryozkin, Prasanthi Namburi, Anand Swaroop, Eyal Banin, Libe Gradstein, Gal Levy, Dror Sharon, Yair Morad, Segev Meyer, Anat Blumenfeld

Publikováno v: Investigative Ophthalmology & Visual Science

PURPOSE Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous hereditary retinal diseases that result in blindness due to photoreceptor degeneration. Mutations in the rhodopsin (RHO) gene are the most common cause of autoso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::061638f72678cf71965ff71c773004aa
https://pubmed.ncbi.nlm.nih.gov/26962691

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Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data

Autor: Liliana Mizrahi-Meissonnier, Tamar Ben-Yosef, Samer Khateb, Mor Hanany, Segev Meyer, Avigail Beryozkin, Sari Lieberman, Ayat Khalaileh, Dror Sharon, Eyal Banin, Fathieh Abu Turky, Alaa Abu-Diab

Publikováno v: Journal of medical genetics. 53(9)

Background Inherited retinal degenerations (IRDs) are a common cause of visual disturbance with a high clinical and genetic heterogeneity. Recent sequencing techniques such as whole exome sequencing (WES) contribute to the discovery of novel genes. T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73b8249814d93985822ddfbadaa5031f
https://pubmed.ncbi.nlm.nih.gov/27208209

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