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46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.
Genes (Basel). 2020 Dec 9;11(12):1473. doi: 10.3390/genes11121473.
Genes (Basel). 2020.
PMID: 33316910
Free PMC article.
Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss.
Fonova EA, Tolmacheva EN, Kashevarova AA, Sazhenova EA, Nikitina TV, Lopatkina ME, Vasilyeva OY, Zarubin AА, Aleksandrova TN, Yuriev SY, Skryabin NA, Stepanov VA, Lebedev IN.
Fonova EA, et al.
Cytogenet Genome Res. 2022;162(3):97-108. doi: 10.1159/000524342. Epub 2022 May 30.
Cytogenet Genome Res. 2022.
PMID: 35636401
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Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.
Tolmacheva EN, Kashevarova AA, Nazarenko LP, Minaycheva LI, Skryabin NA, Lopatkina ME, Nikitina TV, Sazhenova EA, Belyaeva EO, Fonova EA, Salyukova OA, Tarabykin VS, Lebedev IN.
Tolmacheva EN, et al. Among authors: fonova ea.
Cytogenet Genome Res. 2020;160(5):245-254. doi: 10.1159/000508050. Epub 2020 May 30.
Cytogenet Genome Res. 2020.
PMID: 32485717
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Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.
Sivtsev AA, Zhalsanova IZ, Postrigan AE, Fonova EA, Vasilyeva OY, Zarubin AA, Minaicheva LI, Agafonova AA, Petrova VV, Ravzhaeva EG, Salyukova OA, Skryabin NA.
Sivtsev AA, et al. Among authors: fonova ea.
Klin Lab Diagn. 2022 Apr 17;67(4):250-256. doi: 10.51620/0869-2084-2022-67-4-250-256.
Klin Lab Diagn. 2022.
PMID: 35575400
English.
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A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.
Karamysheva TV, Lebedev IN, Minaycheva LI, Nazarenko LP, Kashevarova AA, Fedotov DA, Skryabin NA, Lopatkina ME, Cheremnykh AD, Fonova EA, Nikitina TV, Sazhenova EA, Skleimova MM, Kolesnikov NA, Drozdov GV, Yakovleva YS, Seitova GN, Orishchenko KE, Rubtsov NB.
Karamysheva TV, et al. Among authors: fonova ea.
Front Genet. 2024 Mar 11;15:1331066. doi: 10.3389/fgene.2024.1331066. eCollection 2024.
Front Genet. 2024.
PMID: 38528911
Free PMC article.
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Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.
Essers R, Lebedev IN, Kurg A, Fonova EA, Stevens SJC, Koeck RM, von Rango U, Brandts L, Deligiannis SP, Nikitina TV, Sazhenova EA, Tolmacheva EN, Kashevarova AA, Fedotov DA, Demeneva VV, Zhigalina DI, Drozdov GV, Al-Nasiry S, Macville MVE, van den Wijngaard A, Dreesen J, Paulussen A, Hoischen A, Brunner HG, Salumets A, Zamani Esteki M.
Essers R, et al. Among authors: fonova ea.
Nat Med. 2023 Dec;29(12):3233-3242. doi: 10.1038/s41591-023-02645-5. Epub 2023 Nov 23.
Nat Med. 2023.
PMID: 37996709
Free PMC article.
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