Search Results - "ZILINA, Olga"

In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages by Zamani Esteki, Masoud, Viltrop, Triin, Tšuiko, Olga, Tiirats, Airi, Koel, Mariann, Nõukas, Margit, Žilina, Olga, Teearu, Katre, Marjonen, Heidi, Kahila, Hanna, Meekels, Jeroen, Söderström-Anttila, Viveca, Suikkari, Anne-Maria, Tiitinen, Aila, Mägi, Reedik, Kõks, Sulev, Kaminen-Ahola, Nina, Kurg, Ants, Voet, Thierry, Vermeesch, Joris Robert, Salumets, Andres

“…Although chromosomal instability (CIN) is a common phenomenon in cleavage-stage embryogenesis following in vitro fertilization (IVF) 1 – 3 , its rate in…”
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A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review by Yakoreva, Maria, Kahre, Tiina, Pajusalu, Sander, Ilisson, Piret, Žilina, Olga, Tillmann, Vallo, Reimand, Tiia, Õunap, Katrin

“…Temple syndrome (TS14) is a relatively recently discovered imprinting disorder caused by abnormal expression of genes at the locus 14q32. The underlying cause…”
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Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome by Žilina, Olga, Koltšina, Marina, Raid, Raivo, Kurg, Ants, Tõnisson, Neeme, Salumets, Andres

“…Somatic mosaicism denotes the presence of genetically distinct populations of somatic cells in one individual who has developed from a single fertilised…”
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Creating basis for introducing non‐invasive prenatal testing in the Estonian public health setting by Žilina, Olga, Rekker, Kadri, Kaplinski, Lauris, Sauk, Martin, Paluoja, Priit, Teder, Hindrek, Ustav, Eva‐Liina, Tõnisson, Neeme, Reimand, Tiia, Ridnõi, Konstantin, Palta, Priit, Vermeesch, Joris Robert, Krjutškov, Kaarel, Kurg, Ants, Salumets, Andres

“…Objective The study aimed to validate a whole‐genome sequencing‐based NIPT laboratory method and our recently developed NIPTmer aneuploidy detection software…”
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NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies by Sauk, Martin, Žilina, Olga, Kurg, Ants, Ustav, Eva-Liina, Peters, Maire, Paluoja, Priit, Roost, Anne Mari, Teder, Hindrek, Palta, Priit, Brison, Nathalie, Vermeesch, Joris R., Krjutškov, Kaarel, Salumets, Andres, Kaplinski, Lauris

“…Non-invasive prenatal testing (NIPT) is a recent and rapidly evolving method for detecting genetic lesions, such as aneuploidies, of a fetus. However, there is…”
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Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R by Leffler, Melanie, Puusepp, Sanna, Žilina, Olga, Zhu, Ying, Kuuse, Kati, Bain, Nicole, Burgess, Trent, Õunap, Katrin, Field, Michael

“…Abstract Terminal duplications of 15q26.3 are associated with an overgrowth phenotype, distinct facial features and intellectual disability, with the smallest…”
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Patient with Dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature by Žilina, Olga, Reimand, Tiia, Tammur, Pille, Tillmann, Vallo, Kurg, Ants, Õunap, Katrin

“…Abstract The recent implementation of array techniques in research and clinical practice has revealed the existence of recurrent reciprocal deletions and…”
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Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes by Vals, Mari-Anne, Kahre, Tiina, Mee, Pille, Muru, Kai, Kallas, Eha, Žilina, Olga, Tillmann, Vallo, Õunap, Katrin

“…Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 opposite growth-affecting disorders. The common molecular cause for both syndromes is…”
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Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader–Willi syndrome by Žilina, Olga, Kahre, Tiina, Talvik, Inga, Õiglane-Shlik, Eve, Tillmann, Vallo, Õunap, Katrin

“…Abstract Prader–Willi syndrome (PWS) is caused by the lack of paternal expression of imprinted genes in the human chromosomal region 15q11.2–q13.2, which can…”
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The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity by Pajusalu, Sander, Žilina, Olga, Yakoreva, Maria, Tammur, Pille, Kuuse, Kati, Mölter-Väär, Triin, Nõukas, Margit, Reimand, Tiia, Õunap, Katrin

“…We present data from our clinical department's experience with chromosomal microarray analysis (CMA) regarding the diagnostic utility of 1 or 2 long contiguous…”
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Monosomy 1p36 – A multifaceted and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities by Õiglane-Shlik, Eve, Puusepp, Sanna, Talvik, Inga, Vaher, Ulvi, Rein, Reet, Tammur, Pille, Reimand, Tiia, Teek, Rita, Žilina, Olga, Tomberg, Tiiu, Õunap, Katrin

“…Abstract Monosomy 1p36 is the most common subtelomeric deletion syndrome seen in humans. Uniform features of the syndrome include early developmental delay and…”
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Chromosomal microarray analysis as a first‐tier clinical diagnostic test: Estonian experience by Žilina, Olga, Teek, Rita, Tammur, Pille, Kuuse, Kati, Yakoreva, Maria, Vaidla, Eve, Mölter‐Väär, Triin, Reimand, Tiia, Kurg, Ants, Õunap, Katrin

“…Chromosomal microarray analysis (CMA) is now established as the first‐tier cytogenetic diagnostic test for fast and accurate detection of chromosomal…”
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9 Mb familial duplication in chromosome band Xp22.2–22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features by Sismani, Carolina, Anastasiadou, Violetta, Kousoulidou, Ludmila, Parkel, Sven, Koumbaris, George, Žilina, Olga, Bashiardes, Stavros, Spanou, Elena, Kurg, Ants, Patsalis, Philippos C

“…Abstract We report on a family with syndromic X-linked mental retardation (XLMR) caused by an Xp22.2–22.13 duplication. This family consists of a carrier…”
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Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis by Mikelsaar, Ruth, Nelis, Mari, Kurg, Ants, Žilina, Olga, Korrovits, Paul, Rätsep, Ranno, Väli, Maie

“…We describe the first case of two chromosomal abnormalities, balanced reciprocal translocation t(5;13)(q33;q12.1) and a microduplication in the region 9q31.1,…”
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A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia by Männik, Katrin, Parkel, Sven, Palta, Priit, Žilina, Olga, Puusepp, Helen, Esko, Tõnu, Mägi, Reedik, Nõukas, Margit, Veidenberg, Andres, Nelis, Mari, Metspalu, Andres, Remm, Maido, Õunap, Katrin, Kurg, Ants

“…Abstract The increasing use of whole-genome array screening has revealed the important role of DNA copy-number variations in the pathogenesis of…”
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Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes by Patsalis, Philippos C, Kousoulidou, Ludmila, Männik, Katrin, Sismani, Carolina, ilina, Olga, Parkel, Sven, Puusepp, Helen, Tõnisson, Neeme, Palta, Priit, Remm, Maido, Kurg, Ants

“…High-throughput genome-wide screening methods to detect subtle genomic imbalances are extremely important for diagnostic genetics and genomics. Here, we…”
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Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization by PATSALIS, Philippos C, KOUSOULIDOU, Ludmila, KURG, Ants, MÄNNIK, Katrin, SISMANI, Carolina, ZILINA, Olga, PARKEL, Sven, PUUSEPP, Helen, TONISSON, Neeme, PALTA, Priit, REMM, Maido

“…Array-based genome-wide screening methods were recently introduced to clinical practice in order to detect small genomic imbalances that may cause severe…”
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De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis by Pajusalu, Sander, Reimand, Tiia, Uibo, Oivi, Vasar, Maire, Talvik, Inga, Zilina, Olga, Tammur, Pille, Õunap, Katrin

“…Abstract We report a female patient with a complex phenotype consisting of failure to thrive, developmental delay, congenital bronchiectasis, gastroesophageal…”
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An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature by Õunap, Katrin, Pajusalu, Sander, Zilina, Olga, Reimand, Tiia, Žordania, Riina

“…Key Clinical Message 3q26.33‐3q27.2 microdeletion can be classified as a clinical entity characterized by intrauterine growth retardation, feeding problems in…”
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5.9 Mb microdeletion in chromosome band 17q22–q23.2 associated with tracheo-esophageal fistula and conductive hearing loss by Puusepp, Helen, Zilina, Olga, Teek, Rita, Männik, Katrin, Parkel, Sven, Kruustük, Katrin, Kuuse, Kati, Kurg, Ants, Õunap, Katrin

“…Abstract Only eight cases involving deletions of chromosome 17 in the region q22–q24 have been reported previously. We describe an additional case, a…”
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