Meiner V - Search Results

1

Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.

Levinger N, Hendler K, Banin E, Hanany M, Kimchi A, Mechoulam H, Meiner V, Parag Y, Sharon D, Macarov M, Yahalom C. Levinger N, et al. Among authors: meiner v. Eur J Ophthalmol. 2021 Nov;31(6):3349-3354. doi: 10.1177/1120672120977343. Epub 2020 Nov 25. Eur J Ophthalmol. 2021. PMID: 33238767

2

Genetic screening for Krabbe disease: learning from the past and looking to the future.

Macarov M, Zlotogora J, Meiner V, Khatib Z, Sury V, Mengistu G, Bargal R, Shmueli E, Meidan B, Zeigler M. Macarov M, et al. Among authors: meiner v. Am J Med Genet A. 2011 Mar;155A(3):574-6. doi: 10.1002/ajmg.a.33815. Epub 2011 Feb 22. Am J Med Genet A. 2011. PMID: 21344630

3

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.

Harel T, Levy-Lahad E, Daana M, Mechoulam H, Horowitz-Cederboim S, Gur M, Meiner V, Elpeleg O. Harel T, et al. Among authors: meiner v. Eur J Hum Genet. 2019 Aug;27(8):1315-1319. doi: 10.1038/s41431-019-0380-y. Epub 2019 Apr 11. Eur J Hum Genet. 2019. PMID: 30976112 Free PMC article.

4

An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers.

Kimchi A, Meiner V, Silverstein S, Macarov M, Mor-Shaked H, Blumenfeld A, Audo I, Zeitz C, Mechoulam H, Banin E, Sharon D, Yahalom C. Kimchi A, et al. Among authors: meiner v. Ophthalmic Genet. 2019 Oct;40(5):443-448. doi: 10.1080/13816810.2019.1681008. Epub 2019 Oct 25. Ophthalmic Genet. 2019. PMID: 31651202

5

Non-confined long-standing blood chimerism in a spontaneous monochorionic dizygotic twin pregnancy.

Daum H, Frumkin A, Meiner V, Werner M, Macarov M, Gillis D, Israel S, Abed El Latif M, Meir K, Gielchinsky Y. Daum H, et al. Among authors: meiner v. Int J Gynaecol Obstet. 2020 Mar;148(3):399-400. doi: 10.1002/ijgo.13022. Epub 2019 Nov 26. Int J Gynaecol Obstet. 2020. PMID: 31671208 No abstract available.

6

Progressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation.

Navarrete A, Kimchi A, Levy J, Meiner V, Amer R, Yahalom C. Navarrete A, et al. Among authors: meiner v. Turk J Ophthalmol. 2020 Dec 29;50(6):387-389. doi: 10.4274/tjo.galenos.2020.33858. Turk J Ophthalmol. 2020. PMID: 33389941 Free PMC article.

7

Clinicians' attitudes towards parental choice in the era of advanced genomic tests in pregnancy.

Macarov M, Meiner V, Chalk M, Hochner H, Shkedi-Rafid S. Macarov M, et al. Among authors: meiner v. Prenat Diagn. 2021 Aug;41(9):1066-1073. doi: 10.1002/pd.6010. Epub 2021 Jul 19. Prenat Diagn. 2021. PMID: 34259341

8

Postpartum women's attitudes to disclosure of adult-onset conditions in pregnancy.

Libman V, Macarov M, Friedlander Y, Goldman-Mellor S, Israel S, Hochner-Celnikier D, Sompolinsky Y, Dior UP, Osovsky M, Basel-Salmon L, Wiznitzer A, Neumark Y, Meiner V, Frumkin A, Shkedi-Rafid S, Hochner H. Libman V, et al. Among authors: meiner v. Prenat Diagn. 2022 Jul;42(8):1038-1048. doi: 10.1002/pd.6162. Epub 2022 May 4. Prenat Diagn. 2022. PMID: 35484937 Free PMC article.

9

Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance.

Libman V, Macarov M, Friedlander Y, Hochner-Celnikier D, Sompolinsky Y, Dior UP, Osovsky M, Basel-Salmon L, Wiznitzer A, Neumark Y, Meiner V, Frumkin A, Hochner H, Shkedi-Rafid S. Libman V, et al. Among authors: meiner v. Prenat Diagn. 2024 Mar;44(3):270-279. doi: 10.1002/pd.6518. Epub 2024 Jan 14. Prenat Diagn. 2024. PMID: 38221678

10

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

Spiegel R, Mandel H, Saada A, Lerer I, Burger A, Shaag A, Shalev SA, Jabaly-Habib H, Goldsher D, Gomori JM, Lossos A, Elpeleg O, Meiner V. Spiegel R, et al. Among authors: meiner v. Eur J Hum Genet. 2014 Aug;22(8):1019-25. doi: 10.1038/ejhg.2013.284. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424123 Free PMC article.

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