- Open Access
Svetlana G. Vorsanova (1945–2021)
Molecular Cytogenetics volume 15, Article number: 35 (2022)
Les vivants ne sont que des morts qui ne sont pas encore entrés en function.
On 31 August, 2021, Professor Svetlana Grigorievna Vorsanova (Fig. 1), an irreplaceable member of the Molecular Cytogenetics Editorial Board, passed away. It is to note that she was among the founders of Molecular Cytogenetics and was intrinsically involved in the developing journal’s aims, scope and original policy . Once the journal was launched, she modestly took the role as a member of the Editorial Board. Still, the impact of her involvement in Molecular Cytogenetics is hard to estimate.
As a true child of her times, Svetlana lived her professional and personal life as an idealistic scientist and reflective practitioner. Even her sudden passing away due to COVID-19 confirms this statement. ‘Until the very end’, she worked on a textbook dedicated to one of the most sensitive problems of current cytogenetics, the role and applications of classical cytogenetics in current biomedicine . Her life was almost completely devoted to cytogenetics as a science and practical discipline. It was not an easy life. She struggled a lot… Overcoming numerous obstacles on the road to demonstrating the importance of molecular cytogenetic diagnosis and validity of original cytogenomic/cytogenetic theories, she became a beautiful example of an intrinsic scientist paying real attention to practical issues of her science. Probably, Antonio Gramsci’s dictum — ‘pessimism of the intellect, optimism of the will’ — is the best laconic description of her modus operandi and vivendi.
Looking back at Svetlana’s walk of life, I prefer to describe briefly the professional journey of this brilliant researcher and bright person by thematic landmarks to provide her profound, albeit non-explicit, impact on biomedicine. Certainly, she would be happy, if her life’s description would be used by forthcoming generations of cytogeneticists and biomedical scientists for understanding the true meaning of their mission.
Svetlana started the long and winding road to her professional achievements by nursing. Difficult times of her adolescence obliged to combine biological education with the hard and responsible work of a surgical nurse. In fact, her employment history began when she was 14 years old. Her work was repeatedly found remarkable by the surgeons in charge, but her ultimate purpose was to study bioscience. Eventually, she succeeded by graduating from biological faculty of Lomonosov Moscow State University ‘working in parallel’.
She started her cytogenetic quest in the pre-banding era . Then, Svetlana used her cytogenetic skills to analyze chromosomal behavior and variation in cells (nuclei) during cultivation. The striking outcome of these studies was uncovering progressive accumulation of chromosomal instability (suggested aneuploidization) in senescent cells or aged cell populations proposing a new cytogenetic paradigm for aging research [4, 5]. Although these findings and idea was dogmatically misunderstood, open-minded researchers found these data applicable for discovering biomarkers of cancer . Now we know that these findings (discoveries) are valid, inasmuch as chromosome instability and aneuploidization are confirmed biomarkers of cellular aging and senescence. Moreover, this is valid for post-mitotic cells, as well . Regardless of being a local (but important) story, it is to note that introducing of cytogenetic prenatal diagnosis in USSR is largely the result of Svetlana’s hard work [8, 9]. Here, it is to mention the way she introduced cytogenetic prenatal diagnosis in our country, because it picturesquely describes her attitude to her work. Within the short time, she was able to introduce cytogenetic techniques for prenatal diagnosis without any local technological background using her enthusiasm and assistance of a technician. On the other hand, previously, a whole laboratory specifically established to achieve the purpose of introducing parental diagnosis in USSR was not able to succeed. Additionally, Svetlana never forgot to use her practical achievements for basic studies, i.e. analysis of DNA replication in cultured amniotic fluid cells . Furthermore, her true enthusiasm in opening new opportunities for cytogeneticists to uncover chromosome abnormalities led to introducing in situ hybridization methods to human cytogenetics. Unfortunately, the paper about these developments was published two years later after the submission along with other articles reporting similar data . Thus, the molecular cytogenetic era began.
Interphase cytogenetics is another field of bioscience benefited from Svetlana’s work . Started in the early 1990s, Svetlana’s odyssey in interphase cytogenetics resulted in proposing numerous molecular cytogenetic techniques, which were the essence of true discoveries in biomedical science [13,14,15]. Alternatively, this body of research was a basis for a successful book dedicated to human interphase chromosomes, in which basic research and diagnostic applications are intimately linked to each other . The second edition of this book is certainly the demonstration of the success .
The success of Svetlana’s research in interphase molecular cytogenetics was the result of original technological developments in the field. These may be divided in two essential parts: (i) centromeric one-color/two-color/multicolor fluorescence in situ hybridization (FISH), which was used to uncover aneuploidies, to decipher marker chromosomes and to analysis of structural chromosome abnormalities involving centromeric DNAs [18,19,20,21] and (ii) specific developments in interphase chromosome analysis, i.e. quantitative FISH and interphase chromosome-specific multicolor banding (a historical help of Professor Thomas Liehr (Jena, Germany) is gratefully appreciated), which factually led to rebirth of interphase cytogenetics in the 2000s [22,23,24,25,26,27,28].
The former was used as a basis for molecular cytogenetics discoveries in germ-line cells , spontaneous abortions (e.g. discovery of intrinsic rates of chromosomal mosaicism in pregnancy losses) [30, 31], and analyzing mutagenic activity of environmental factors . The latter was a basis for numerous discoveries in human genetics and neuroscience [33,34,35,36,37,38,39,40,41,42]. The most notable among these are the role of chromosome instability and aneuploidy in human neurodevelopment  as well as the causes and consequences of chromosomal mosaicism and instability in psychiatric diseases [44,45,46,47,48,49,50,51,52], neurodegeneration and aging [53,54,55,56,57,58,59,60,61,62].
A specifically important area of Svetlana’s research was Rett syndrome. During the late 1990s, she became an internationally recognized Rett syndrome researcher. More precisely, epigenetic mechanisms, genotype–phenotype correlations, mechanisms of the syndrome in males, cytogenomic causes of mutation-negative cases and the occurrence among children with intellectual disability were the essential results of her Rett syndrome studies [63,64,65,66,67,68,69,70,71,72,73,74]. These discoveries in Rett syndrome biology were the basis for the decision of holding VIII World Rett Syndrome Congress & Symposium of rare diseases in Russia . Other genetic diseases, which were the focus of successful Svetlana’s research, were disorders associated with trisomy 21 (Down syndrome, mosaic trisomy 21 etc.) [76,77,78] and with subtelomeric deletions [79, 80].
As a true cytogeneticist, Svetlana thought and worked a lot on chromosomal heteromorphisms. Her contributions to the field are hard to overestimate (e.g. analysis of alpha- and classical satellite DNAs in situ, quantification of heteromorphisms by FISH, analysis of heteromorphisms in children with neurodevelopmental diseases) [47, 81,82,83,84,85].
Another local story of Svetlana’s contribution to diagnostic research that resulted in important contribution to biomedicine was related to introducing cytogenomic microarray analysis of copy number variations (CNVs) in Russia. Svetlana was among the leaders of the research group, which was the first one that introduced microarray analysis of CNVs in Russia [86, 87]. These cytogenomic studies resulted in several discoveries, i.e. new causative CNVs for neurodevelopmental diseases and long contiguous stretches of homozygosity spanning shortly the imprinted loci as a cause for neurodevelopmental diseases [88,89,90,91]. Moreover, the term ‘cytogenomics’ in its actual meaning was introduced by Svetlana and her colleagues . Finally, these cytogenomic studies opened a new big chapter of Svetlana’s research, which was roughly defined as cytogenetic/cytogenomic bioinformatics or in silico molecular cytogenetics.
Svetlana’s research merging bioinformatics and molecular cytogenetics (in silico molecular cytogenetics) was dedicated to unraveling mechanisms of diseases associated with CNVs or chromosome abnormalities, to determine causes and consequences of chromosomal and/or genomic instability, to simulate consequences of genomic variations and to interpret CNVs [93,94,95,96,97]. These studies were successful enough to re-consider the basis of genetic disease suggesting adding the pathway-based classification to the generally acknowledged (gene-centric) classification . Additionally, CNVariome, a model for analysis of the whole set of individual or disease-specific CNVs, was developed . Furthermore, the combination of advanced molecular cytogenetic technologies and bioinformatic analysis allowed to uncover a new type of chromosome instability (chromohelkosis) and to propose the ‘cytogenetic theory of everything’ . In total, the body of Svetlana’s bioinformatic research yielded new biomedical direction of systems cytogenomics . Moreover, these studies provided for ground-breaking achievements in medical cytogenetics (cytogenomics) — the treatment of chromosomal disorders, which are presumably incurable genetic conditions [102, 103]. Finally, paying a tribute to our time, the latest bioinformatic research of Svetlana was focused on the impact of COVID-19 on biomedical publishing  and cellular genomes . The results of these studies became a glorious finish of bioinformatic chapter of Svetlana’s research and… life.
The latest interests of Svetlana were related to ‘syndrome-specific’ chromosomal mosaicism in neurodevelopmental diseases. Thus, Turner’s syndrome mosaicism  and Klinefelter syndrome mosaicism  were found to have an important contribution to pathogenesis of neurodevelopmental disorders. She finalized the analysis of autosomal mosaicisms in the same large cohort of children with neurodevelopmental diseases (n ~ 10,000), but she did not managed to finish the manuscript describing the study.
Svetlana made serious efforts in elevating the educational level in cytogenetics. She received numerous thanks and acknowledgements of Russian-spoken specialists from all over the world because of her co-authored books (textbooks) [2, 108,109,110,111,112,113,114], which are almost the unique ones dedicated to classical cytogenetics, molecular cytogenetics and cyto(post)genomics in Russian. Her original ideas about current role of cytogenetics in bioscience were repeatedly expressed. She consistently signalized numerous problems in the field and proposed the ways to solve these problems [115,116,117,118,119,120,121,122,123]. It is certain that her ideas should not be forgotten.
It is not a big secret that Svetlana’s family is the core of research groups performed such a body of biomedical research. Her son, Dr. Ilia V. Soloviev, a pioneer of molecular cytogenetic and cytogenomic research (the results of his brilliant work and his ideas formed our research directions), tragically passed away in the 1990s. Her husband Professor Yuri B. Yurov passed away five years ago . Unacceptable loss of Svetlana is also a grievous personal loss for me and her two granddaughters. It is hard to imagine the professional life of our two laboratories (one is named after Prof. YB Yurov and another one is named after Svetlana) without her. The only thing our labs can do is to multiply and to share the legacy of two outstanding researchers, Professors Yuri B. Yurov and Svetlana G. Vorsanova.
Yurov YB, Liehr T, Shaffer LG, Iourov IY, Vorsanova SG. A new open access journal for a rapidly evolving biomedical field: introducing molecular cytogenetics. Mol Cytogenet. 2008;1:1.
Vorsanova SG, Iourov IY, Yurov YB. Classical clinical cytogenetics (textbook). Moscow: The publishing house of The Russian Academy of Natural History; 2021.
Revazov AA, Derilo TG, Vorsanova SG. Enlargement of the long arm of a B-group chromosome (Bq+) in a boy aged nine years. Sov Genet. 1973;7(8):1086–9.
Vorsanova SG. Dynamics of changes in anomalous human cells during prolonged cultivation in the stationary phase Trisomy 7 cells. Biull Eksp Biol Med. 1977;83(6):742–4.
Vorsanova SG. Stationary populations of genetically different homonuclear strains of human cells. Biull Eksp Biol Med. 1978;85(2):225–7.
Tatarinov YS, Kalashnikov VV, Vasiliev MY, Voloshuk SG, Kraevsky NA, Vorsanova SG. Human embryonic prealbumin as a marker for tumours and fibroblasts. Lancet. 1978;2(8100):1122–3.
Iourov IY, Yurov YB, Vorsanova SG, Kutsev SI. Chromosome instability, aging and brain diseases. Cells. 2021;10(5):1256.
Vorsanova SG. Method of culturing amniotic fluid cells. Biull Eksp Biol Med. 1979;87(6):625–7.
Vorsanova SG. Prenatal diagnosis of hereditary diseases. Med Sestra. 1988;47(7):22–5.
Iurov IuB, Vorsanova SG. DNA replication in cultured amniotic fluid cells. Biull Eksp Biol Med. 1981;92(9):349–52.
Vorsanova SG, Yurov YB, Alexandrov IA, Demidova IA, Mitkevich SP, Tirskaia AF. 18p- syndrome: an unusual case and diagnosis by in situ hybridization with chromosome 18-specific alphoid DNA sequence. Hum Genet. 1986;72(2):185–7.
Vorsanova SG, Yurov YB, Iourov IY. Human interphase chromosomes: a review of available molecular cytogenetic technologies. Mol Cytogenet. 2010;3:1.
Vorsanova SG, Iurov IuB, Deriagin GV, Solov’ev IV, Bytenskaia GA. Method of diagnosing aneuploidies using in situ hybridization: analysis of interphase nuclei. Biull Eksp Biol Med. 1991;112(10):413–5.
Iourov IY, Vorsanova SG, Yurov YB. Recent patents on molecular cytogenetics. Recent Pat DNA Gene Seq. 2008;2(1):6–15.
Iurov II, Vorsanova SG, Solov’ev IV, Iurov IB. Molecular cytogenetic methods for studying interphase chromosomes in human brain cells. Genetika. 2010;46(9):1171–4.
Yurov YB, Vorsanova SG, Iourov IY. Human Interphase Chromosomes: Biomedical Aspects. New York: Springer; 2013.
Iourov IY, Vorsanova SG, Yurov YB. Human Interphase Chromosomes: biomedical aspects (second edition). New York: Springer; 2020.
Vorsanova SG, Yurov YB, Passarge I, Schmidt A, Zerova TE, Demidova IA, Buzhiyevskaya TI. Identification of marker chromosomes by in situ hybridization technique using alpha and “classical” satellite DNA probes with relative chromosomal specificity. Tsitol Genet. 1994;28(3):67–70.
Vorsanova SG, Yurov YB, Soloviev IV, Demidova IA, Malet P. Rapid identification of marker chromosomes by in situ hybridization under different stringency conditions. Anal Cell Pathol. 1994;7(3):251–8.
Yurov YB, Laurent AM, Marcais B, Vorsanova SG, Roizes G. Analysis of pericentromeric chromosome 21 specific YAC clones by FISH: identification of new markers for molecular-cytogenetic application. Hum Genet. 1995;95(3):287–92.
Yurov YB, Soloviev IV, Vorsanova SG, Marcais B, Roizes G, Lewis R. High resolution multicolor fluorescence in situ hybridization using cyanine and fluorescein dyes: rapid chromosome identification by directly fluorescently labeled alphoid DNA probes. Hum Genet. 1996;97(3):390–8.
Iourov IY, Soloviev IV, Vorsanova SG, Monakhov VV, Yurov YB. An approach for quantitative assessment of fluorescence in situ hybridization (FISH) signals for applied human molecular cytogenetics. J Histochem Cytochem. 2005;53(3):401–8.
Iourov IY, Liehr T, Vorsanova SG, Kolotii AD, Yurov YB. Visualization of interphase chromosomes in postmitotic cells of the human brain by multicolour banding (MCB). Chrom Res. 2006;14(3):223–9.
Iourov IY, Liehr T, Vorsanova SG, Yurov YB. Interphase chromosome-specific multicolor banding (ICS-MCB): a new tool for analysis of interphase chromosomes in their integrity. Biomol Eng. 2007;24(4):415–7.
Iourov IY, Vorsanova SG, Yurov YB. Fluorescence intensity profiles of in situ hybridization signals depict genome architecture within human interphase nuclei. Tsitol Genet. 2008;42(5):3–8.
Iurov IuB, Vorsanova SG, Solov’ev IV, Iurov IIu. Instability of chromosomes in human nerve cells (normal and with neuromental diseases). Genetika. 2010;46(10):1352–5.
Iourov IY, Vorsanova SG, Yurov YB. Single cell genomics of the brain: focus on neuronal diversity and neuropsychiatric diseases. Curr Genomics. 2012;13(6):477–88.
Iourov IY, Zelenova MA, Vorsanova SG, Voinova VV, Yurov YB. 4q21.2q21.3 duplication: molecular and neuropsychological aspects. Curr Genomics. 2018;19(3):173–8.
Yurov YB, Saias MJ, Vorsanova SG, Erny R, Soloviev IV, Sharonin VO, Guichaoua MR, Luciani JM. Rapid chromosomal analysis of germ-line cells by FISH: an investigation of an infertile male with large-headed spermatozoa. Mol Hum Reprod. 1996;2(9):665–8.
Vorsanova SG, Kolotii AD, Iourov IY, Monakhov VV, Kirillova EA, Soloviev IV, Yurov YB. Evidence for high frequency of chromosomal mosaicism in spontaneous abortions revealed by interphase FISH analysis. J Histochem Cytochem. 2005;53(3):375–80.
Vorsanova SG, Iurov IIu, Kolotiĭ AD, Beresheva AK, Demidova IA, Kurinnaia OS, Kravets VS, Monakhov VV, Solov’ev IV, Iurov IuB. Chromosomal mosaicism in spontaneous abortions: analysis of 650 cases. Genetika. 2010;46(10):1356–9.
Iurov IIu, Vorsanova SG, Solov'ev IV, Iurov IuB (2011) Original molecular cytogenetic approach to determining spontaneous chromosomal mutations in the interphase cells to evaluate the mutagenic activity of environmental factors. Gig Sanit, (5):90–4.
Yurov YB, Vostrikov VM, Vorsanova SG, Monakhov VV, Iourov IY. Multicolor fluorescent in situ hybridization on post-mortem brain in schizophrenia as an approach for identification of low-level chromosomal aneuploidy in neuropsychiatric diseases. Brain Dev. 2001;23(Suppl 1):S186–90.
Iourov IY, Vorsanova SG, Yurov YB. Chromosomal variation in mammalian neuronal cells: known facts and attractive hypotheses. Int Rev Cytol. 2006;249:143–91.
Iourov IY, Vorsanova SG, Yurov YB. Intercellular genomic (chromosomal) variations resulting in somatic mosaicism: mechanisms and consequences. Curr Geno. 2006;7:435–46.
Iourov IY, Vorsanova SG, Yurov YB. Chromosomal mosaicism goes global. Mol Cytogenet. 2008;1:26.
Iourov IY, Vorsanova SG, Yurov YB. Somatic genome variations in health and disease. Curr Geno. 2010;11(6):387–96.
Yurov YB, Vorsanova SG, Iourov IY. Ontogenetic variation of the human genome. Curr Geno. 2010;11(6):420–5.
Vorsanova SG, Yurov YB, Soloviev IV, Iourov IY. Molecular cytogenetic diagnosis and somatic genome variations. Curr Geno. 2010;11(6):440–6.
Iourov IY, Vorsanova SG, Yurov YB. Somatic cell genomics of brain disorders: a new opportunity to clarify genetic-environmental interactions. Cytogenet Genome Res. 2013;139(3):181–8.
Iourov IY, Vorsanova SG, Yurov YB, Kutsev SI. Ontogenetic and pathogenetic views on somatic chromosomal mosaicism. Genes (Basel). 2019;10(5):379.
Iourov IY, Vorsanova SG, Kurinnaia OS, Zelenova MA, Vasin KS, Yurov YB. Causes and consequences of genome instability in psychiatric and neurodegenerative diseases. Mol Biol. 2021;55(1):37–46.
Yurov YB, Iourov IY, Vorsanova SG, Liehr T, Kolotii AD, Kutsev SI, Pellestor F, Beresheva AK, Demidova IA, Kravets VS, Monakhov VV, Soloviev IV. Aneuploidy and confined chromosomal mosaicism in the developing human brain. PLoS ONE. 2007;2(6): e558.
Yurov YB, Vorsanova SG, Iourov IY, Demidova IA, Beresheva AK, Kravetz VS, Monakhov VV, Kolotii AD, Voinova-Ulas VY, Gorbachevskaya NL. Unexplained autism is frequently associated with low-level mosaic aneuploidy. J Med Genet. 2007;44(8):521–5.
Iourov IY, Yurov YB, Vorsanova SG. Mosaic X chromosome aneuploidy can help to explain the male-to-female ratio in autism. Med Hypoth. 2008;70(2):456.
Yurov YB, Iourov IY, Vorsanova SG, Demidova IA, Kravetz VS, Beresheva AK, Kolotii AD, Monakchov VV, Uranova NA, Vostrikov VM, Soloviev IV, Liehr T. The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1. Schizophr Res. 2008;98(1–3):139–47.
Vorsanova SG, Voinova VY, Yurov IY, Kurinnaya OS, Demidova IA, Yurov YB. Cytogenetic, molecular-cytogenetic, and clinical-genealogical studies of the mothers of children with autism: a search for familial genetic markers for autistic disorders. Neurosci Behav Physiol. 2010;40(7):745–56.
Tiganov AS, Iurov IuB, Vorsanova SG, Iurov IIu. Genomic instability in the brain: etiology, pathogenesis and new biological markers of psychiatric disorders. Vestn Ross Akad Med Nauk. 2010;67(9):45–53.
Iourov IY, Vorsanova SG, Zelenova MA, Korostelev SA, Yurov YB. Genomic copy number variation affecting genes involved in the cell cycle pathway: implications for somatic mosaicism. Int J Geno. 2015;2015: 757680.
Yurov YB, Vorsanova SG, Demidova IA, Kravets VS, Vostrikov VM, Soloviev IV, Uranova NA, Iourov IY. Genomic instability in the brain: chromosomal mosaicism in schizophrenia. Zh Nevrol Psikhiatr Im S S Korsakova. 2016;116(11):86–91.
Vorsanova SG, Zelenova MA, Yurov YB, Iourov IY. Behavioral variability and somatic mosaicism: a cytogenomic hypothesis. Curr Geno. 2018;19(3):158–62.
Yurov YB, Vorsanova SG, Demidova IA, Kolotii AD, Soloviev IV, Iourov IY. Mosaic brain aneuploidy in mental illnesses: an association of low-level post-zygotic aneuploidy with schizophrenia and comorbid psychiatric disorders. Curr Geno. 2018;19(3):163–72.
Iourov IY, Vorsanova SG, Yurov YB. Ataxia telangiectasia paradox can be explained by chromosome instability at the subtissue level. Med Hypoth. 2007;68(3):716.
Iourov IY, Vorsanova SG, Liehr T, Yurov YB. Aneuploidy in the normal, Alzheimer’s disease and ataxia-telangiectasia brain: differential expression and pathological meaning. Neurobiol Dis. 2009;34(2):212–20.
Iourov IY, Vorsanova SG, Liehr T, Kolotii AD, Yurov YB. Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain. Hum Mol Genet. 2009;18(14):2656–69.
Yurov YB, Iourov IY, Vorsanova SG. Neurodegeneration mediated by chromosome instability suggests changes in strategy for therapy development in ataxia-telangiectasia. Med Hypoth. 2009;73(6):1075–6.
Yurov YB, Vorsanova SG, Iourov IY. GIN’n’CIN hypothesis of brain aging: deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny. Mol Cytogenet. 2009;2:23.
Iourov IY, Vorsanova SG, Yurov YB (2011) Genomic landscape of the Alzheimer's disease brain: chromosome instability—aneuploidy, but not tetraploidy—mediates neurodegeneration. Neurodegener Dis. 8(1–2):35–7; discussion 38–40
Yurov YB, Vorsanova SG, Iourov IY. The DNA replication stress hypothesis of Alzheimer’s disease. Scientific World J. 2011;11:2602–12.
Yurov YB, Vorsanova SG, Liehr T, Kolotii AD, Iourov IY. X chromosome aneuploidy in the Alzheimer’s disease brain. Mol Cytogenet. 2014;7(1):20.
Yurov YB, Vorsanova SG, Iourov IY. Chromosome instability in the neurodegenerating brain. Front Genet. 2019;10:892.
Vorsanova SG, Yurov YB, Iourov IY. Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging. Mol Cytogenet. 2020;13:16.
Vorsanova SG, Demidova IA, Ulas VYu, Soloviev IV, Kazantzeva LZ, Yurov YuB. Cytogenetic and molecular-cytogenetic investigation of Rett syndrome: analysis of 31 cases. Neuroreport. 1996;8(1):187–9.
Vorsanova SG, Demidova IA, Ulas VIu, Solov’ev IV, Kravets VS, Kazantseva LZ, Iurov IuB. Cytogenetic and molecular genetic diagnostics of Rett syndrome in children. Zh Nevrol Psikhiatr Im S S Korsakova. 1998;98(4):53–6.
Vorsanova SG, Ulas VIu, Demidova IA, Kravets VS, Iurov IuB. Contemporary views on Rett’s syndrome: clinical, cytogenetic and molecular studies. Zh Nevrol Psikhiatr Im S S Korsakova. 1999;99(3):61–9.
Vorsanova SG, Yurov YB, Kolotii AD, Soloviev IV. FISH analysis of replication and transcription of chromosome X loci: new approach for genetic analysis of Rett syndrome. Brain Dev. 2001;23(Suppl 1):S191–5.
Vorsanova SG, Yurov YB, Ulas VY, Demidova IA, Sharonin VO, Kolotii AD, Gorbatchevskaia NL, Beresheva AK, Soloviev IV. Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys). Brain Dev. 2001;23(Suppl 1):S196-201.
Yurov YB, Vorsanova SG, Kolotii AD, Iourov IY. Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett syndrome. Brain Dev. 2001;23(Suppl 1):S214–7.
Vorsanova SG, Ulas VIu, Iurov IuB, Giovanucci-Uzielli ML, Demidova IA, Gianti L, Villard L, Iurov IIu, Beresheva AK, Novikov PV. Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients. Zh Nevrol Psikhiatr Im S S Korsakova. 2002;102(10):23–9.
Iurov IIu, Vorsanova SG, Iurov IuB. Nervous and mental diseases in boys and mutations in MECP2 gene. Zh Nevrol Psikhiatr Im S S Korsakova. 2004;104(10):73–80.
Vorsanova SG, Iourov IY, Yurov YB. Neurological, genetic and epigenetic features of Rett syndrome. J Pediatr Neurol. 2004;2:179–90.
Iurov IIu, Vorsanova SG, Voinova-Ulas VIu, Villard L, Demidova IA, Giunti L, Guivabyccu-Uzielli ML, Budilov AV, Beresheva AK, Novikov PV, Iurov IuV. Epigenetic study of Rett’s syndrome as an adequate model for autistic disorders. Zh Nevrol Psikhiatr Im S S Korsakova. 2005;105(7):4–11.
Vorsanova SG, Iurov IIu, Voinova VIu, Kurinnaia OS, Zelenova MA, Demidova IA, Ulas EV, Iurov IuB. Subchromosomal microdeletion identified by molecular karyotyping using DNA microarrays (array CGH) in Rett syndrome girls negative for MECP2 gene mutations. Zh Nevrol Psikhiatr Im S S Korsakova. 2013;113(10):63–8.
Iourov IY, Vorsanova SG, Voinova VY, Kurinnaia OS, Zelenova MA, Demidova IA, Yurov YB. Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease. Mol Cytogenet. 2013;6(1):53.
Iourov IY, Vorsanova SG, Yurov YB, Bertrand T. VIII world rett syndrome congress & symposium of rare diseases, Kazan. Russia Mol Cytogenet. 2018;11:61.
Soloviev IV, Yurov YB, Vorsanova SG, Fayet F, Roizes G, Malet P. Prenatal diagnosis of trisomy 21 using interphase fluorescence in situ hybridization of post-replicated cells with site-specific cosmid and cosmid contig probes. Prenat Diagn. 1995;15(3):237–48.
Vorsanova SG, Iourov IY, Beresheva AK, Demidova IA, Monakhov VV, Kravets VS, Bartseva OB, Goyko EA, Soloviev IV, Yurov YB. Non-disjunction of chromosome 21, alphoid DNA variation, and sociogenetic features of Down syndrome. Tsitol Genet. 2005;39(6):30–6.
Hultén MA, Jonasson J, Iwarsson E, Uppal P, Vorsanova SG, Yurov YB, Iourov IY. Trisomy 21 mosaicism: we may all have a touch of Down syndrome. Cytogenet Genome Res. 2013;139(3):189–92.
Vorsanova SG, Koloti D, Sharonin VO, Soloviev V, Yurov YB. FISH analysis of microaberrations at telomeric and subtelomeric regions in chromosomes of children with mental retardation. Am J Hum Genet Suppl. 1998;65:A154.
Vorsanova SG, Yurov YB, Kolotii AD, Demidova IA, Novikova IM. 16q subtelomeric deletion in proband with congenital malformations and mental retardation. Tsitol Genet. 2000;34(6):72–4.
Soloviev IV, Yurov YuD, Vorsanova SG, Malet P, Zerova TE, Buzhievskaya TI. Double color in situ hybridization of alpha-satellite chromosome 13, 21 specific cosmid clones for a rapid screening of their specificity. Tsitol Genet. 1998;32(4):60–4.
Solov’ev IV, Iurov IuB, Vorsanova SG, Marcais B, Rogaev EI, Kapanadze BI, Brodianskiĭ VM, Iankovskiĭ NK, Roizes G. Study of alpha-satellite DNA in cosmid libraries, specific for chromosomes 13, 21, and 22, using fluorescence in situ hybridization. Genetika. 1998;34(11):1470–9.
Marzais B, Vorsanova SG, Roizes G, Yurov YB. Analysis of alphoid DNA variation and kinetochore size in human chromosome 21: evidence against pathological significance of alphoid satellite DNA diminutions. Tsitol Genet. 1999;33(1):25–31.
Vorsanova SG, Yurov YB, Brusquant D, Carles E, Roizes G. Two new cases of the Christchurch (Ch1) chromosome 21: evidence for clinical consequences of de novo deletion 21P-. Tsitol Genet. 2002;36(1):46–9.
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Iourov IY, Vorsanova SG, Yuri B. Yurov (1951–2017). Mol Cytogenet. 2018;11:36.
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Iourov, I.Y. Svetlana G. Vorsanova (1945–2021). Mol Cytogenet 15, 35 (2022). https://doi.org/10.1186/s13039-022-00613-1