Gershoni-Baruch R - Search Results

1

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. Byrne S, et al. Among authors: gershoni baruch r. Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. Brain. 2016. PMID: 26917586 Free PMC article.

2

Hereditary breast/ovarian cancer--pitfalls in genetic counseling.

Dagan E, Gershoni-Baruch R. Dagan E, et al. Clin Genet. 2001 Oct;60(4):310-3. doi: 10.1034/j.1399-0004.2001.600410.x. Clin Genet. 2001. PMID: 11683778

3

Anticipation in hereditary breast cancer.

Dagan E, Gershoni-Baruch R. Dagan E, et al. Clin Genet. 2002 Aug;62(2):147-50. doi: 10.1034/j.1399-0004.2002.620207.x. Clin Genet. 2002. PMID: 12220452

4

Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel.

Mory A, Dagan E, Shahor I, Mandel H, Illi B, Zolotushko J, Kurolap A, Chechik E, Valente EM, Amselem S, Gershoni-Baruch R. Mory A, et al. Pediatr Neurol. 2014 Apr;50(4):421-6. doi: 10.1016/j.pediatrneurol.2014.01.006. Epub 2014 Jan 7. Pediatr Neurol. 2014. PMID: 24630287

5

Early onset breast cancer in Ashkenazi women carriers of founder BRCA1/2 mutations: beyond 10 years of follow-up.

Dagan E, Gershoni-Baruch R, Kurolap A, Fried G. Dagan E, et al. Among authors: gershoni baruch r. Eur J Cancer Care (Engl). 2017 Nov;26(6). doi: 10.1111/ecc.12594. Epub 2016 Oct 10. Eur J Cancer Care (Engl). 2017. PMID: 27726213

6

"I do not want my baby to suffer as I did"; prenatal and preimplantation genetic diagnosis for BRCA1/2 mutations: a case report and genetic counseling considerations.

Dagan E, Gershoni-Baruch R, Kurolap A, Goldberg Y, Fried G. Dagan E, et al. Genet Test Mol Biomarkers. 2014 Jul;18(7):461-6. doi: 10.1089/gtmb.2013.0513. Epub 2014 Jun 10. Genet Test Mol Biomarkers. 2014. PMID: 24915046 Review.

7

Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype.

Dagan E, Friedman E, Paperna T, Carmi N, Gershoni-Baruch R. Dagan E, et al. Eur J Hum Genet. 2002 Nov;10(11):724-8. doi: 10.1038/sj.ejhg.5200880. Eur J Hum Genet. 2002. PMID: 12404104

8

Henoch-Schonlein purpura: polymorphisms in thrombophilia genes.

Dagan E, Brik R, Broza Y, Gershoni-Baruch R. Dagan E, et al. Pediatr Nephrol. 2006 Aug;21(8):1117-21. doi: 10.1007/s00467-006-0155-x. Epub 2006 Jun 22. Pediatr Nephrol. 2006. PMID: 16791607

9

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

Riemersma M, Mandel H, van Beusekom E, Gazzoli I, Roscioli T, Eran A, Gershoni-Baruch R, Gershoni M, Pietrokovski S, Vissers LE, Lefeber DJ, Willemsen MA, Wevers RA, van Bokhoven H. Riemersma M, et al. Among authors: gershoni baruch r. Neurology. 2015 May 26;84(21):2177-82. doi: 10.1212/WNL.0000000000001615. Epub 2015 May 1. Neurology. 2015. PMID: 25934851

10

Muscle involvement in Walker-Warburg syndrome. Clinicopathologic features of four cases.

Lichtig C, Ludatscher RM, Mandel H, Gershoni-Baruch R. Lichtig C, et al. Am J Clin Pathol. 1993 Nov;100(5):493-6. doi: 10.1093/ajcp/100.5.493. Am J Clin Pathol. 1993. PMID: 8249887

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