Goldstein N - Search Results

1

Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.

Bercovich D, Elimelech A, Zlotogora J, Korem S, Yardeni T, Gal N, Goldstein N, Vilensky B, Segev R, Avraham S, Loewenthal R, Schwartz G, Anikster Y. Bercovich D, et al. Among authors: goldstein n. J Hum Genet. 2008;53(5):407-418. doi: 10.1007/s10038-008-0264-4. Epub 2008 Feb 26. J Hum Genet. 2008. PMID: 18299955

2

A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.

Bercovich D, Elimelech A, Yardeni T, Korem S, Zlotogora J, Gal N, Goldstein N, Vilensky B, Segev R, Avraham S, Loewenthal R, Schwartz G, Anikster Y. Bercovich D, et al. Among authors: goldstein n. Ann Hum Genet. 2008 May;72(Pt 3):305-9. doi: 10.1111/j.1469-1809.2007.00425.x. Epub 2008 Feb 19. Ann Hum Genet. 2008. PMID: 18294361

3

Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype.

Dekel B, Metsuyanim S, Goldstein N, Pode-Shakked N, Kovalski Y, Cohen Y, Davidovits M, Anikster Y. Dekel B, et al. Among authors: goldstein n. Pediatr Res. 2008 Apr;63(4):398-403. doi: 10.1203/PDR.0b013e31816721cc. Pediatr Res. 2008. PMID: 18356746

4

Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations.

Landau Z, Hanukoglu A, Sack J, Goldstein N, Weintrob N, Eliakim A, Gillis D, Sagi M, Shomrat R, Kosinovsky EB, Anikster Y. Landau Z, et al. Among authors: goldstein n. Clin Endocrinol (Oxf). 2010 Apr;72(4):448-54. doi: 10.1111/j.1365-2265.2009.03652.x. Epub 2009 Jun 8. Clin Endocrinol (Oxf). 2010. PMID: 19508677

5

The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population.

Goldstein N, Cohen Y, Pode-Shakked B, Sigalov E, Vilensky B, Peleg L, Anikster Y. Goldstein N, et al. Mol Genet Metab. 2011 Feb;102(2):157-60. doi: 10.1016/j.ymgme.2010.10.007. Epub 2010 Oct 20. Mol Genet Metab. 2011. PMID: 21059483

6

Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.

Bar-joseph I, Pras E, Reznik-Wolf H, Marek-Yagel D, Abu-Horvitz A, Dushnitzky M, Goldstein N, Rienstein S, Dekel M, Pode-Shakked B, Zlotnik J, Benarrosh A, Gillery P, Hofliger N, Auray-Blais C, Garnotel R, Anikster Y. Bar-joseph I, et al. Among authors: goldstein n. Hum Genet. 2012 Nov;131(11):1805-10. doi: 10.1007/s00439-012-1207-x. Epub 2012 Jul 24. Hum Genet. 2012. PMID: 22825317

7

Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene.

Eisenkraft A, Pode-Shakked B, Goldstein N, Shpirer Z, van Bokhoven H, Anikster Y. Eisenkraft A, et al. Among authors: goldstein n. Fetal Pediatr Pathol. 2015;34(6):400-6. doi: 10.3109/15513815.2015.1095261. Epub 2015 Oct 16. Fetal Pediatr Pathol. 2015. PMID: 26470833

8

Lack of association between the C2 allele of transferrin and age-related macular degeneration in the Israeli population.

Asleh SA, Lederman M, Weinstein O, Horowitz S, Meir T, Lahad A, Goldstein N, Sharon D, Israel S, Chowers I. Asleh SA, et al. Among authors: goldstein n. Ophthalmic Genet. 2009 Dec;30(4):161-4. doi: 10.3109/13816810903147998. Ophthalmic Genet. 2009. PMID: 19852572

9

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: goldstein n. Front Genet. 2019 Jun 25;10:425. doi: 10.3389/fgene.2019.00425. eCollection 2019. Front Genet. 2019. PMID: 31428121 Free PMC article.

10

Expanded targeted preconception screening panel in Israel: findings and insights.

Reches A, Ofen Glassner V, Goldstein N, Yeshaya J, Delmar G, Portugali E, Hallas T, Weinstein A, Kurolap A, Berkenstadt M, Mantsour T, Abu-Gutstein L, Ries-Levavi L, Reznik-Wolf H, Behar DM, Yaron Y, Pras E, Baris Feldman H. Reches A, et al. Among authors: goldstein n. J Med Genet. 2024 May 6:jmg-2023-109629. doi: 10.1136/jmg-2023-109629. Online ahead of print. J Med Genet. 2024. PMID: 38719349

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