Elena L. Dadali - Search Results

Year	Number of Results
2004	1
2018	3
2019	1
2020	3
2021	1
2022	3
2023	1
2024	1

1

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.

Zinchenko RA, Makaov AK, Marakhonov AV, Galkina VA, Kadyshev VV, El'chinova GI, Dadali EL, Mikhailova LK, Petrova NV, Petrina NE, Vasilyeva TA, Gundorova P, Polyakov AV, Alexandrova OY, Kutsev SI, Ginter EK. Zinchenko RA, et al. Among authors: dadali el. Int J Mol Sci. 2020 Jan 3;21(1):325. doi: 10.3390/ijms21010325. Int J Mol Sci. 2020. PMID: 31947737 Free PMC article.

2

Blood ACE Phenotyping for Personalized Medicine: Revelation of Patients with Conformationally Altered ACE.

Danilov SM, Jain MS, A Petukhov P, Kurilova OV, Ilinsky VV, Trakhtman PE, Dadali EL, Samokhodskaya LM, Kamalov AA, Kost OA. Danilov SM, et al. Among authors: dadali el. Biomedicines. 2023 Feb 13;11(2):534. doi: 10.3390/biomedicines11020534. Biomedicines. 2023. PMID: 36831070 Free PMC article.

3

Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of "8p Inverted Duplication/Deletion Syndrome".

Yurchenko DA, Minzhenkova ME, Dadali EL, Markova ZG, Rudenskaya GE, Matyushchenko GN, Kanivets IV, Shilova NV. Yurchenko DA, et al. Among authors: dadali el. Biomedicines. 2022 Feb 28;10(3):567. doi: 10.3390/biomedicines10030567. Biomedicines. 2022. PMID: 35327368 Free PMC article.

4

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.

Ionova SA, Murtazina AF, Tebieva IS, Getoeva ZK, Dadali EL, Chausova PA, Shchagina OA, Marakhonov AV, Kutsev SI, Zinchenko RA. Ionova SA, et al. Among authors: dadali el. Int J Mol Sci. 2022 Oct 12;23(20):12127. doi: 10.3390/ijms232012127. Int J Mol Sci. 2022. PMID: 36292982 Free PMC article.

5

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia.

Altamura C, Ivanova EA, Imbrici P, Conte E, Camerino GM, Dadali EL, Polyakov AV, Kurbatov SA, Girolamo F, Carratù MR, Desaphy JF. Altamura C, et al. Among authors: dadali el. Front Neurol. 2020 Sep 4;11:1019. doi: 10.3389/fneur.2020.01019. eCollection 2020. Front Neurol. 2020. PMID: 33013670 Free PMC article.

6

Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.

Markova TV, Kenis V, Melchenko E, Guseva D, Osipova D, Galeeva N, Nagornova T, Dadali EL. Markova TV, et al. Mol Genet Genomic Med. 2022 May;10(5):e1904. doi: 10.1002/mgg3.1904. Epub 2022 Mar 21. Mol Genet Genomic Med. 2022. PMID: 35315254 Free PMC article.

7

The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.

Kovalskaia VA, Kungurtseva AL, Bostanova FM, Vasiliev PA, Tabakov VY, Orlova MD, Povolotskaya IS, Novoselova OG, Bikanov RA, Akhyamova MA, Tikhonovich YV, Popovich AV, Vitebskaya AV, Dadali EL, Ryzhkova OP. Kovalskaia VA, et al. Among authors: dadali el. Genes (Basel). 2024 Jan 29;15(2):180. doi: 10.3390/genes15020180. Genes (Basel). 2024. PMID: 38397171 Free PMC article.

8

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.

Shurygina MF, Simonett JM, Parker MA, Mitchell A, Grigorian F, Lifton J, Nagiel A, Shpak AA, Dadali EL, Mishina IA, Weleber RG, Yang P, Pennesi ME. Shurygina MF, et al. Among authors: dadali el. Invest Ophthalmol Vis Sci. 2020 Nov 2;61(13):2. doi: 10.1167/iovs.61.13.2. Invest Ophthalmol Vis Sci. 2020. PMID: 33137195 Free PMC article.

9

A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder.

Semenova NA, Kurkina MV, Marakhonov AV, Dadali EL, Taran NN, Strokova TV. Semenova NA, et al. Among authors: dadali el. Mol Genet Metab Rep. 2021 Apr 12;27:100754. doi: 10.1016/j.ymgmr.2021.100754. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33912394 Free PMC article.

10

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.

Rudenskaya GE, Marakhonov AV, Shchagina OA, Lozier ER, Dadali EL, Akimova IA, Petrova NV, Konovalov FA. Rudenskaya GE, et al. Among authors: dadali el. J Pediatr Genet. 2019 Jun;8(2):58-62. doi: 10.1055/s-0039-1684008. Epub 2019 Mar 27. J Pediatr Genet. 2019. PMID: 31061747 Free PMC article.

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