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The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.
Published in:
Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.719437
By:
- Pajusalu, Sander;
- Vals, Mari-Anne;
- Mihkla, Laura;
- Šamarina, Ustina;
- Kahre, Tiina;
- Õunap, Katrin
Publication type:
Article
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.
Published in:
Molecular Syndromology, 2018, v. 9, n. 4, p. 182, doi. 10.1159/000489446
By:
- Yakoreva, Maria;
- Kahre, Tiina;
- Pajusalu, Sander;
- Ilisson, Piret;
- Žilina, Olga;
- Tillmann, Vallo;
- Reimand, Tiia;
- Õunap, Katrin
Publication type:
Article
High Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic Infarction.
Published in:
Journal of Child Neurology, 2023, v. 38, n. 6/7, p. 373, doi. 10.1177/08830738231186233
By:
- Ilves, Norman;
- Pajusalu, Sander;
- Kahre, Tiina;
- Laugesaar, Rael;
- Šamarina, Ustina;
- Loorits, Dagmar;
- Kool, Pille;
- Ilves, Pilvi
Publication type:
Article
Presumed Perinatal Stroke.
Published in:
Journal of Child Neurology, 2016, v. 31, n. 5, p. 621, doi. 10.1177/0883073815609149
By:
- Ilves, Pilvi;
- Laugesaar, Rael;
- Loorits, Dagmar;
- Kolk, Anneli;
- Tomberg, Tiiu;
- Lõo, Silva;
- Talvik, Inga;
- Kahre, Tiina;
- Talvik, Tiina
Publication type:
Article
Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report.
Published in:
2022
By:
- Zhytnik, Lidiia;
- Peters, Maire;
- Tilk, Kadi;
- Reimand, Tiia;
- Ilisson, Piret;
- Kahre, Tiina;
- Murumets, Ülle;
- Ehrenberg, Aivar;
- Ustav, Eva-Liina;
- Tõnisson, Neeme;
- Mölder, Signe;
- Teder, Hindrek;
- Krjutškov, Kaarel;
- Salumets, Andres
Publication type:
journal article
AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2157
By:
- Roht, Laura;
- Hyldebrandt, Hanne K.;
- Stormorken, Astrid T.;
- Nordgarden, Hilde;
- Sijmons, Rolf H.;
- Bos, Dennis K.;
- Riegert‐Johnson, Douglas;
- Mantia‐Macklin, Sarah;
- Ilves, Pilvi;
- Muru, Kai;
- Wojcik, Monica H.;
- Kahre, Tiina;
- Õunap, Katrin
Publication type:
Article
A two‐year prospective study assessing the performance of fetal chromosomal microarray analysis and next‐generation sequencing in high‐risk pregnancies.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1787
By:
- Ridnõi, Konstantin;
- Muru, Kai;
- Keernik, Maria;
- Pajusalu, Sander;
- Ustav, Eva‐Liina;
- Tammur, Pille;
- Mölter‐Väär, Triin;
- Kahre, Tiina;
- Šamarina, Ustina;
- Asser, Karin;
- Szirko, Ferenc;
- Reimand, Tiia;
- Õunap, Katrin
Publication type:
Article
Pharmacogenetics may explain part of the interindividual variability of dobutamine pharmacodynamics in neonates.
Published in:
British Journal of Clinical Pharmacology, 2022, v. 88, n. 9, p. 4155, doi. 10.1111/bcp.15357
By:
- Hallik, Maarja;
- Soeorg, Hiie;
- Kahre, Tiina;
- Murumets, Ülle;
- Ilmoja, Mari‐Liis;
- Kipper, Karin;
- Metsvaht, Tuuli
Publication type:
Article
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.
Published in:
Cancers, 2023, v. 15, n. 14, p. 3663, doi. 10.3390/cancers15143663
By:
- Roht, Laura;
- Laidre, Piret;
- Tooming, Mikk;
- Tõnisson, Neeme;
- Nõukas, Margit;
- Nurm, Miriam;
- Roomere, Hanno;
- Rekker, Kadri;
- Toome, Kadri;
- Fjodorova, Olga;
- Murumets, Ülle;
- Šamarina, Ustina;
- Pajusalu, Sander;
- Aaspõllu, Anu;
- Salumäe, Liis;
- Muhu, Kristina;
- Soplepmann, Jaan;
- Õunap, Katrin;
- Kahre, Tiina
Publication type:
Article
MODY2 caused by a novel mutation of GCK gene.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 7/8, p. 801, doi. 10.1515/jpem-2012-0137
By:
- Pulst, Kerti;
- Arbo, Triin;
- Kahre, Tiina;
- Peet, Aleksandr;
- Tillmann, Vallo
Publication type:
Article
The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.
Published in:
Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 604, doi. 10.1002/jmd2.12325
By:
- Tiivoja, Elis;
- Reinson, Karit;
- Muru, Kai;
- Rähn, Kristi;
- Muhu, Kristina;
- Mauring, Laura;
- Kahre, Tiina;
- Pajusalu, Sander;
- Õunap, Katrin
Publication type:
Article
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
Published in:
Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01713-y
By:
- Mackay, Deborah J. G.;
- Gazdagh, Gabriella;
- Monk, David;
- Brioude, Frederic;
- Giabicani, Eloise;
- Krzyzewska, Izabela M.;
- Kalish, Jennifer M.;
- Maas, Saskia M.;
- Kagami, Masayo;
- Beygo, Jasmin;
- Kahre, Tiina;
- Tenorio-Castano, Jair;
- Ambrozaitytė, Laima;
- Burnytė, Birutė;
- Cerrato, Flavia;
- Davies, Justin H.;
- Ferrero, Giovanni Battista;
- Fjodorova, Olga;
- Manero-Azua, Africa;
- Pereda, Arrate
Publication type:
Article
Descriptive Epidemiology of Spinal Muscular Atrophy Type I in Estonia.
Published in:
Neuroepidemiology, 2006, v. 27, n. 3, p. 164, doi. 10.1159/000096128
By:
- Vaidla, Eve;
- Talvik, Inga;
- Kulla, Andres;
- Kahre, Tiina;
- Hamarik, Malle;
- Napa, Aita;
- Metsvaht, Tuuli;
- Piirsoo, Andres;
- Talvik, Tiina
Publication type:
Article
Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.881100
By:
- Jürgens, Hannes;
- Roht, Laura;
- Leitsalu, Liis;
- Nõukas, Margit;
- Palover, Marili;
- Nikopensius, Tiit;
- Reigo, Anu;
- Kals, Mart;
- Kallak, Kersti;
- Kütner, Riina;
- Budrikas, Kai;
- Kuusk, Saskia;
- Valvere, Vahur;
- Laidre, Piret;
- Toome, Kadri;
- Rekker, Kadri;
- Tooming, Mikk;
- Murumets, Ülle;
- Kahre, Tiina;
- Kruuv-Käo, Krista
Publication type:
Article
The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.
Published in:
Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.796862
By:
- Sarv, Siiri;
- Kahre, Tiina;
- Vaidla, Eve;
- Pajusalu, Sander;
- Muru, Kai;
- Põder, Haide;
- Gross-Paju, Katrin;
- Ütt, Sandra;
- Žordania, Riina;
- Talvik, Inga;
- Õiglane-Shlik, Eve;
- Muhu, Kristina;
- Õunap, Katrin
Publication type:
Article
Prevalence of the Fragile X Syndrome Among Estonian Mentally Retarded and the Entire Children's Population.
Published in:
Journal of Child Neurology, 2008, v. 23, n. 12, p. 1400, doi. 10.1177/0883073808319071
By:
- Puusepp, Helen;
- Kahre, Tiina;
- Sibul, Hiljar;
- Soo, Viljo;
- Lind, Ilona;
- Raukas, Elve;
- Õunap, Katrin
Publication type:
Article
Aortic Arch Thrombosis in a Neonate With Heterozygous Carrier Status of Factor V Leiden Mutation.
Published in:
Congenital Heart Disease, 2006, v. 1, n. 1/2, p. 40, doi. 10.1111/j.1747-0803.2006.00007.x
By:
- Metsvaht, Tuuli;
- Hermlin, Toomas;
- Kern, Hartmut;
- Kahre, Tiina;
- Starkopf, Joel
Publication type:
Article
Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.
Published in:
Molecular Syndromology, 2015, v. 6, n. 3, p. 147, doi. 10.1159/000437061
By:
- Vals, Mari-Anne;
- Kahre, Tiina;
- Mee, Pille;
- Muru, Kai;
- Kallas, Eha;
- Žilina, Olga;
- Tillmann, Vallo;
- Õunap, Katrin
Publication type:
Article

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