Marek-Yagel D - Search Results

1

Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.

Marek-Yagel D, Abudi-Sinreich S, Macarov M, Veber A, Shalva N, Philosoph AM, Pode-Shakked B, Malicdan MCV, Anikster Y. Marek-Yagel D, et al. Front Genet. 2022 Aug 15;13:936064. doi: 10.3389/fgene.2022.936064. eCollection 2022. Front Genet. 2022. PMID: 36046236 Free PMC article.

2

A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred.

Pode-Shakked B, Marek-Yagel D, Greenberger S, Pode-Shakked N, Pras E, Barzilai A, Yassin S, Sidi Y, Anikster Y. Pode-Shakked B, et al. Eur J Med Genet. 2015 Dec;58(12):685-8. doi: 10.1016/j.ejmg.2015.10.012. Epub 2015 Oct 27. Eur J Med Genet. 2015. PMID: 26518168

3

Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations.

Stephen J, Vilboux T, Haberman Y, Pri-Chen H, Pode-Shakked B, Mazaheri S, Marek-Yagel D, Barel O, Di Segni A, Eyal E, Hout-Siloni G, Lahad A, Shalem T, Rechavi G, Malicdan MC, Weiss B, Gahl WA, Anikster Y. Stephen J, et al. Eur J Hum Genet. 2016 Aug;24(9):1268-73. doi: 10.1038/ejhg.2016.5. Epub 2016 Feb 17. Eur J Hum Genet. 2016. PMID: 26883093 Free PMC article.

4

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.

Pode-Shakked B, Vivante A, Barel O, Padeh S, Marek-Yagel D, Veber A, Abudi S, Eliyahu A, Tirosh I, Shpilman S, Shril S, Hildebrandt F, Shohat M, Anikster Y. Pode-Shakked B, et al. BMC Med Genet. 2019 Mar 29;20(1):53. doi: 10.1186/s12881-019-0787-x. BMC Med Genet. 2019. PMID: 30922245 Free PMC article.

5

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.

Pode-Shakked B, Heimer G, Vilboux T, Marek-Yagel D, Ben-Zeev B, Davids M, Ferreira CR, Philosoph AM, Veber A, Pode-Shakked N, Kenet G, Soudack M, Hoffmann C, Vernitsky H, Safaniev M, Lodzki M, Lahad A, Shouval DS, Levinkopf D, Weiss B, Barg AA, Daka A, Amariglio N, Malicdan MCV, Gahl WA, Anikster Y. Pode-Shakked B, et al. Mol Genet Metab. 2019 Sep-Oct;128(1-2):151-161. doi: 10.1016/j.ymgme.2019.08.003. Epub 2019 Aug 14. Mol Genet Metab. 2019. PMID: 31445883 Free PMC article.

6

A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.

Marek-Yagel D, Bolkier Y, Barel O, Vardi A, Mishali D, Katz U, Salem Y, Abudi S, Nayshool O, Kol N, Raas-Rothschild A, Rechavi G, Anikster Y, Pode-Shakked B. Marek-Yagel D, et al. Am J Med Genet A. 2020 May;182(5):987-993. doi: 10.1002/ajmg.a.61509. Epub 2020 Mar 7. Am J Med Genet A. 2020. PMID: 32144877

7

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.

Landau YE, Heimer G, Barel O, Shalva N, Marek-Yagel D, Veber A, Javasky E, Shilon A, Nissenkorn A, Ben-Zeev B, Anikster Y. Landau YE, et al. Mol Genet Metab Rep. 2020 Aug 15;25:100631. doi: 10.1016/j.ymgmr.2020.100631. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 32904102 Free PMC article.

8

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.

Bolkier Y, Barel O, Marek-Yagel D, Atias-Varon D, Kagan M, Vardi A, Mishali D, Katz U, Salem Y, Tirosh-Wagner T, Jacobson JM, Raas-Rothschild A, Chorin O, Eliyahu A, Sarouf Y, Shlomovitz O, Veber A, Shalva N, Javasky E, Ben Moshe Y, Staretz-Chacham O, Rechavi G, Mane S, Anikster Y, Vivante A, Pode-Shakked B. Bolkier Y, et al. Among authors: marek yagel d. J Med Genet. 2022 Jul;59(7):691-696. doi: 10.1136/jmedgenet-2021-107775. Epub 2021 Jul 2. J Med Genet. 2022. PMID: 34215651

9

Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI).

Marek-Yagel D, Eliyahu A, Veber A, Shalva N, Philosoph AM, Barel O, Javasky E, Pode-Shakked B, Loewenthal N, Anikster Y, Staretz-Chacham O. Marek-Yagel D, et al. Am J Med Genet A. 2021 Dec;185(12):3804-3809. doi: 10.1002/ajmg.a.62453. Epub 2021 Aug 26. Am J Med Genet A. 2021. PMID: 34435740

10

Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.

Marek-Yagel D, Stenke E, Pode-Shakked B, Dunne C, Crushell E, Bryce-Smith A, McDermott M, O'Sullivan MJ, Veber A, Krishnamurthy M, Wells JM, Anikster Y, Bourke B. Marek-Yagel D, et al. Hum Genet. 2023 May;142(5):691-696. doi: 10.1007/s00439-022-02486-1. Epub 2022 Sep 9. Hum Genet. 2023. PMID: 36076104 Free PMC article.

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