Yaron Y - Search Results

1

Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation.

Domniz N, Levavi LR, Berkenstadt M, Pras E, Cohen Y, Raanani H, Goldstein DB, Yaron Y, Elizur S, Ben-Shachar S. Domniz N, et al. Among authors: yaron y. Genet Med. 2021 Jun;23(6):1023-1027. doi: 10.1038/s41436-020-01089-3. Epub 2021 Jan 20. Genet Med. 2021. PMID: 33473206 Free article.

2

The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families.

Geva E, Yaron Y, Shomrat R, Ben-Yehuda A, Zabari S, Peretz H, Naiman T, Yeger H, Orr-Urtreger A. Geva E, et al. Among authors: yaron y. Genet Test. 2000;4(3):289-92. doi: 10.1089/10906570050501524. Genet Test. 2000. PMID: 11142761

3

Evidence for blood chimerism in dizygotic spontaneous twin pregnancy discordant for Down syndrome.

Shalev SA, Shalev E, Pras E, Shneor Y, Gazit E, Yaron Y, Loewenthal R. Shalev SA, et al. Among authors: yaron y. Prenat Diagn. 2006 Sep;26(9):782-4. doi: 10.1002/pd.1503. Prenat Diagn. 2006. PMID: 16927328

4

Preimplantation genetic diagnosis for fragile X syndrome using multiplex nested PCR.

Malcov M, Naiman T, Yosef DB, Carmon A, Mey-Raz N, Amit A, Vagman I, Yaron Y. Malcov M, et al. Among authors: yaron y. Reprod Biomed Online. 2007 Apr;14(4):515-21. doi: 10.1016/s1472-6483(10)60901-7. Reprod Biomed Online. 2007. PMID: 17425837

5

Preimplantation genetic diagnosis for fragile X syndrome: is there increased transmission of abnormal FMR1 alleles among female heterozygotes?

Reches A, Malcov M, Ben-Yosef D, Azem F, Amit A, Yaron Y. Reches A, et al. Among authors: yaron y. Prenat Diagn. 2009 Jan;29(1):57-61. doi: 10.1002/pd.2179. Prenat Diagn. 2009. PMID: 19097038

6

Large-scale population screening for spinal muscular atrophy: clinical implications.

Ben-Shachar S, Orr-Urtreger A, Bardugo E, Shomrat R, Yaron Y. Ben-Shachar S, et al. Among authors: yaron y. Genet Med. 2011 Feb;13(2):110-4. doi: 10.1097/GIM.0b013e3182017c05. Genet Med. 2011. PMID: 21233719 Free article.

7

A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews.

Ben-Shachar S, Zvi T, Rolfs A, Breda Klobus A, Yaron Y, Bar-Shira A, Orr-Urtreger A. Ben-Shachar S, et al. Among authors: yaron y. Mol Genet Metab. 2012 Nov;107(3):608-10. doi: 10.1016/j.ymgme.2012.08.011. Epub 2012 Aug 18. Mol Genet Metab. 2012. PMID: 22947400

8

Microscopic chromosome Xp distal deletions--a challenging issue in prenatal genetic counseling.

Sukenik-Halevy R, Reches A, Bar-Shira A, Simchoni S, Goldstein M, Orr-Ortreger A, Yaron Y, Ben-Shachar S. Sukenik-Halevy R, et al. Among authors: yaron y. Prenat Diagn. 2014 Jun;34(6):592-7. doi: 10.1002/pd.4354. Epub 2014 Mar 25. Prenat Diagn. 2014. PMID: 24609917

9

Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women.

Weiss K, Orr-Urtreger A, Kaplan Ber I, Naiman T, Shomrat R, Bardugu E, Yaron Y, Ben-Shachar S. Weiss K, et al. Among authors: yaron y. Genet Med. 2014 Dec;16(12):940-4. doi: 10.1038/gim.2014.64. Epub 2014 May 29. Genet Med. 2014. PMID: 24875300 Free article.

10

Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the HNF1B gene.

Cleper R, Reches A, Shapira D, Simchoni S, Reisman L, Ben-Sira L, Yaron Y, Wolman I, Malinger G, Brabbing-Goldstein D, Ben-Shachar S. Cleper R, et al. Among authors: yaron y. Transl Pediatr. 2021 Dec;10(12):3130-3139. doi: 10.21037/tp-21-386. Transl Pediatr. 2021. PMID: 35070826 Free PMC article.

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