Pras E - Search Results

1

Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling Experience.

Gilbar R, Shalev S, Spiegel R, Pras E, Berkenstadt M, Sagi M, Ben-Yehuda A, Mor P, Perry S, Zaccai TF, Borochowitz Z, Barnoy S. Gilbar R, et al. Among authors: pras e. J Genet Couns. 2016 Apr;25(2):314-24. doi: 10.1007/s10897-015-9873-1. Epub 2015 Sep 14. J Genet Couns. 2016. PMID: 26371363

2

The D1152H cystic fibrosis mutation in prenatal carrier screening, patients and prenatal diagnosis.

Peleg L, Karpati M, Bronstein S, Berkenstadt M, Frydman M, Yonath H, Pras E. Peleg L, et al. Among authors: pras e. J Med Screen. 2011;18(4):169-72. doi: 10.1258/jms.2011.011044. Epub 2011 Dec 7. J Med Screen. 2011. PMID: 22156145

3

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.

Yonath H, Reznik-Wolf H, Berkenstadt M, Eisenberg-Barzilai S, Lehtokari VL, Wallgren-Pettersson C, Mehta L, Achiron R, Gilboa Y, Polak-Charcon S, Winder T, Frydman M, Pras E. Yonath H, et al. Among authors: pras e. Prenat Diagn. 2012 Jan;32(1):70-4. doi: 10.1002/pd.2905. Prenat Diagn. 2012. PMID: 22367672

4

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

Heimer G, Oz-Levi D, Eyal E, Edvardson S, Nissenkorn A, Ruzzo EK, Szeinberg A, Maayan C, Mai-Zahav M, Efrati O, Pras E, Reznik-Wolf H, Lancet D, Goldstein DB, Anikster Y, Shalev SA, Elpeleg O, Ben Zeev B. Heimer G, et al. Among authors: pras e. Eur J Paediatr Neurol. 2016 Jan;20(1):69-79. doi: 10.1016/j.ejpn.2015.10.003. Epub 2015 Oct 22. Eur J Paediatr Neurol. 2016. PMID: 26542466

5

The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.

Laitman Y, Boker-Keinan L, Berkenstadt M, Liphsitz I, Weissglas-Volkov D, Ries-Levavi L, Sarouk I, Pras E, Friedman E. Laitman Y, et al. Among authors: pras e. Cancer Genet. 2016 Mar;209(3):70-4. doi: 10.1016/j.cancergen.2015.12.006. Epub 2015 Dec 22. Cancer Genet. 2016. PMID: 26778106

6

Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers.

Domniz N, Ries-Levavi L, Cohen Y, Marom-Haham L, Berkenstadt M, Pras E, Glicksman A, Tortora N, Latham GJ, Hadd AG, Nolin SL, Elizur SE. Domniz N, et al. Among authors: pras e. Front Genet. 2018 Dec 13;9:606. doi: 10.3389/fgene.2018.00606. eCollection 2018. Front Genet. 2018. PMID: 30619448 Free PMC article.

7

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period.

Eyal O, Berkenstadt M, Reznik-Wolf H, Poran H, Ziv-Baran T, Greenbaum L, Yonath H, Pras E. Eyal O, et al. Among authors: pras e. Mol Genet Genomic Med. 2019 Apr;7(4):e00573. doi: 10.1002/mgg3.573. Epub 2019 Jan 28. Mol Genet Genomic Med. 2019. PMID: 30693677 Free PMC article.

8

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.

Greenbaum L, Pode-Shakked B, Eisenberg-Barzilai S, Dicastro-Keidar M, Bar-Ziv A, Goldstein N, Reznik-Wolf H, Poran H, Rigbi A, Barel O, Bertoli-Avella AM, Bauer P, Regev M, Raas-Rothschild A, Pras E, Berkenstadt M. Greenbaum L, et al. Among authors: pras e. Front Genet. 2019 Jun 25;10:425. doi: 10.3389/fgene.2019.00425. eCollection 2019. Front Genet. 2019. PMID: 31428121 Free PMC article.

9

Chromosomal Microarray Evaluation of Fetal Ventriculomegaly.

Toren A, Alpern S, Berkenstadt M, Bar-Yosef O, Pras E, Katorza E. Toren A, et al. Among authors: pras e. Isr Med Assoc J. 2020 Oct;22(10):639-644. Isr Med Assoc J. 2020. PMID: 33070489 Free article.

10

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Brownstein Z, Gulsuner S, Walsh T, Martins FTA, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, Arnthórsson AÖ, Sokolov M, Gilony D, Lipschitz N, Frydman M, Davidov B, Macarov M, Sagi M, Vinkler C, Poran H, Sharony R, Samra N, Zvi N, Baris-Feldman H, Singer A, Handzel O, Hertzano R, Ali-Naffaa D, Ruhrman-Shahar N, Madgar O, Sofrin-Drucker E, Peleg A, Khayat M, Shohat M, Basel-Salmon L, Pras E, Lev D, Wolf M, Steingrimsson E, Shomron N, Kelley MW, Kanaan MN, Allon-Shalev S, King MC, Avraham KB. Brownstein Z, et al. Among authors: pras e. Clin Genet. 2020 Oct;98(4):353-364. doi: 10.1111/cge.13817. Epub 2020 Aug 24. Clin Genet. 2020. PMID: 33111345 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

300 results

Search Page