Baris-Feldman H - Search Results

1

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. 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.

2

Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.

Hershkovitz T, Kurolap A, Ruhrman-Shahar N, Monakier D, DeChene ET, Peretz-Amit G, Funke B, Zucker N, Hirsch R, Tan WH, Baris Feldman H. Hershkovitz T, et al. Am J Med Genet A. 2019 Mar;179(3):365-372. doi: 10.1002/ajmg.a.61017. Epub 2018 Dec 27. Am J Med Genet A. 2019. PMID: 30588760

3

Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.

Paperna T, Sharon-Shwartzman N, Kurolap A, Goldberg Y, Moustafa N, Carasso Y, Feinstien M, Mory A, Reznick-Levi G, Gonzaga-Jauregui C, Shuldiner AR, Basel-Salmon L, Ofran Y, Half EE, Baris Feldman H. Paperna T, et al. J Med Genet. 2020 Jul;57(7):500-504. doi: 10.1136/jmedgenet-2018-105824. Epub 2019 Mar 11. J Med Genet. 2020. PMID: 30858171

4

A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature.

Sagi-Dain L, Kurolap A, Ilivitzki A, Mory A, Paperna T; Regeneron Genetics Center; Kedar R, Gonzaga-Jauregui C, Peleg A, Baris Feldman H. Sagi-Dain L, et al. Am J Med Genet A. 2020 Jan;182(1):205-212. doi: 10.1002/ajmg.a.61404. Epub 2019 Nov 7. Am J Med Genet A. 2020. PMID: 31697046

5

Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results - Analysis of 269 singleton pregnancies.

Singer A, Maya I, Banne E, Baris Feldman H, Vinkler C, Ben Shachar S, Sagi-Dain L. Singer A, et al. Early Hum Dev. 2020 Jun;145:105047. doi: 10.1016/j.earlhumdev.2020.105047. Epub 2020 Apr 20. Early Hum Dev. 2020. PMID: 32339917

6

A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.

Peleg A, Kurolap A, Sagi-Dain L, Larom-Khan G, Adir V, Mory A, Paperna T, Shuldiner AR, Gonzaga-Jauregui C, Adir N, Baris Feldman H, Wollstein R. Peleg A, et al. Clin Dysmorphol. 2021 Apr 1;30(2):71-75. doi: 10.1097/MCD.0000000000000342. Clin Dysmorphol. 2021. PMID: 32925198

7

Eculizumab-Responsive Adult Onset Protein Losing Enteropathy, Caused by Germline CD55-Deficiency and Complicated by Aggressive Angiosarcoma.

Hagin D, Lahav D, Freund T, Shamai S, Brazowski E, Fishman S, Kurolap A, Baris Feldman H, Shohat M, Salomon O. Hagin D, et al. J Clin Immunol. 2021 Feb;41(2):477-481. doi: 10.1007/s10875-020-00910-7. Epub 2020 Nov 19. J Clin Immunol. 2021. PMID: 33215321 No abstract available.

8

RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.

Samra N, Toubiana S, Yttervik H, Tzur-Gilat A, Morani I, Itzkovich C, Giladi L, Abu Jabal K, Cao JZ, Godley LA, Mory A, Baris Feldman H, Tveten K, Selig S, Weiss K. Samra N, et al. J Hum Genet. 2021 Nov;66(11):1101-1112. doi: 10.1038/s10038-021-00931-z. Epub 2021 May 13. J Hum Genet. 2021. PMID: 33980986

9

A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.

Kessel I, German A, Peleg A; Regeneron Genetics Center; Gonzaga-Jauregui C, Paperna T, Ekhilevitch N, Kurolap A, Baris Feldman H, Sagi-Dain L. Kessel I, et al. Am J Med Genet A. 2021 Oct;185(10):3161-3166. doi: 10.1002/ajmg.a.62401. Epub 2021 Jun 19. Am J Med Genet A. 2021. PMID: 34145742

10

Experts' views on COVID-19 vaccination and the impact of the pandemic on patients with Gaucher disease.

Hamiel U, Kurolap A, Cohen IJ, Ruhrman-Shahar N, Hershkovitz T, Niederau C, Zimran A, Revel-Vilk S, Istaiti M, Cappellini MD, Baris Feldman H. Hamiel U, et al. Br J Haematol. 2021 Oct;195(2):e135-e137. doi: 10.1111/bjh.17693. Epub 2021 Jul 5. Br J Haematol. 2021. PMID: 34227097 Free PMC article. No abstract available.

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