Paperna T - Search Results

1

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. Among authors: paperna t. Eur J Hum Genet. 2002 Nov;10(11):724-8. doi: 10.1038/sj.ejhg.5200880. Eur J Hum Genet. 2002. PMID: 12404104

2

Caudal dysplasia sequence with penile enlargement: case report and a potential pathogenic hypothesis.

Makhoul IR, Aviram-Goldring A, Paperna T, Sujov P, Rienstein S, Smolkin T, Epelman M, Gershoni-Baruch R. Makhoul IR, et al. Among authors: paperna t. Am J Med Genet. 2001 Feb 15;99(1):54-8. doi: 10.1002/1096-8628(20010215)99:1<54::aid-ajmg1124>3.0.co;2-f. Am J Med Genet. 2001. PMID: 11170094

3

A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers.

Levy-Lahad E, Lahad A, Eisenberg S, Dagan E, Paperna T, Kasinetz L, Catane R, Kaufman B, Beller U, Renbaum P, Gershoni-Baruch R. Levy-Lahad E, et al. Among authors: paperna t. Proc Natl Acad Sci U S A. 2001 Mar 13;98(6):3232-6. doi: 10.1073/pnas.051624098. Proc Natl Acad Sci U S A. 2001. PMID: 11248061 Free PMC article.

4

Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.

Paperna T, Gershoni-Baruch R, Badarneh K, Kasinetz L, Hochberg Z. Paperna T, et al. J Clin Endocrinol Metab. 2005 Sep;90(9):5463-5. doi: 10.1210/jc.2005-1145. Epub 2005 Jul 19. J Clin Endocrinol Metab. 2005. PMID: 16030166

5

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

6

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.

Hershkovitz T, Kurolap A, Gonzaga-Jauregui C, Paperna T, Mory A, Wolf SE; Regeneron Genetics Center; Overton JD, Shuldiner AR, Saada A, Mandel H, Baris Feldman H. Hershkovitz T, et al. Among authors: paperna t. J Hum Genet. 2019 Jun;64(6):589-595. doi: 10.1038/s10038-019-0592-6. Epub 2019 Mar 22. J Hum Genet. 2019. PMID: 30903008

7

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.

Weiss K, Ekhilevitch N, Cohen L, Bratman-Morag S, Bello R, Martinez AF, Hadid Y, Shlush LI, Kurolap A, Paperna T, Mory A, Baris HN, Muenke M. Weiss K, et al. Among authors: paperna t. Eur J Med Genet. 2020 Feb;63(2):103643. doi: 10.1016/j.ejmg.2019.03.007. Epub 2019 Mar 25. Eur J Med Genet. 2020. PMID: 30922925

8

A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in Israel.

Reznick Levi G, Larom G, Ofen Glassner V, Ekhilevitch N, Sharon Swartzman N, Paperna T, Baris-Feldman H, Weiss K. Reznick Levi G, et al. Among authors: paperna t. Fam Cancer. 2022 Jul;21(3):289-294. doi: 10.1007/s10689-021-00262-0. Epub 2021 May 17. Fam Cancer. 2022. PMID: 33999380

9

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.

Kurolap A, Armbruster A, Hershkovitz T, Hauf K, Mory A, Paperna T, Hannappel E, Tal G, Nijem Y, Sella E, Mahajnah M, Ilivitzki A, Hershkovitz D, Ekhilevitch N, Mandel H, Eulenburg V, Baris HN. Kurolap A, et al. Among authors: paperna t. Am J Hum Genet. 2016 Nov 3;99(5):1172-1180. doi: 10.1016/j.ajhg.2016.09.004. Epub 2016 Oct 20. Am J Hum Genet. 2016. PMID: 27773429 Free PMC article.

10

Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype.

Kurolap A, Eshach-Adiv O, Gonzaga-Jauregui C, Dolnikov K, Mory A, Paperna T, Hershkovitz T, Overton JD, Kaplan M, Glaser F, Zohar Y, Shuldiner AR, Berger G, Baris HN. Kurolap A, et al. Among authors: paperna t. J Med Genet. 2018 Nov;55(11):779-784. doi: 10.1136/jmedgenet-2018-105299. Epub 2018 Jun 6. J Med Genet. 2018. PMID: 29875123

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