日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Exploring the hereditary genetic mutational landscape of breast and ovarian cancer in Estonia

探索爱沙尼亚乳腺癌和卵巢癌的遗传基因突变图谱

Tooming, Mikk; Toome, Kadri; Rekker, Kadri; Roht, Laura; Laidre, Piret; Fjodorova, Olga; Roomere, Hanno; Murumets, Ülle; Šamarina, Ustina; Pajusalu, Sander; Žordania, Riina; Tael, Kristi; Vaidla, Eve; Kurvinen, Elvira; Tõnisson, Neeme; Ilisson, Mihkel; Padrik, Peeter; Lehtsaar, Jaak; Kütner, Riina; Vettus, Elen; Vahar, Helen; Peets, Pilleriin; Õunap, Katrin; Kahre, Tiina

Detection of clinically relevant variants in the TP53 gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL

检测TP53基因中等位基因频率低于10%的临床相关变异:欧洲慢性淋巴细胞白血病研究计划(ERIC)的一项多中心研究

Pavlova, Sarka; Malcikova, Jitka; Radova, Lenka; Bonfiglio, Silvia; Cowland, Jack B; Brieghel, Christian; Andersen, Mette K; Karypidou, Maria; Biderman, Bella; Doubek, Michael; Lazarian, Gregory; Rapado, Inmaculada; Vynck, Matthijs; Porret, Naomi A; Andres, Martin; Rosenberg, Dina; Sahar, Dvora; Martínez-Laperche, Carolina; Buño, Ismael; Hindley, Andrew; Donaldson, David; Sánchez, Julio B; García-Marco, José A; Serrano-Alcalá, Alicia; Ferrer-Lores, Blanca; Fernández-Rodriguez, Concepción; Bellosillo, Beatriz; Stilgenbauer, Stephan; Tausch, Eugen; Nikdin, Hero; Quinn, Fiona; Atkinson, Emer; van de Corput, Lisette; Yildiz, Cafer; Bilbao-Sieyro, Cristina; Florido, Yanira; Thiede, Christian; Schuster, Caroline; Stoj, Anastazja; Czekalska, Sylwia; Chatzidimitriou, Anastasia; Laidou, Stamatia; Bidet, Audrey; Dussiau, Charles; Nollet, Friedel; Piras, Giovanna; Monne, Maria; Smirnova, Svetlana; Nikitin, Eugene; Sloma, Ivan; Claudel, Alexis; Largeaud, Laetitia; Ysebaert, Loïc; Valk, Peter J M; Christian, Amy; Walewska, Renata; Oscier, David; Sebastião, Marta; da Silva, Maria Gomes; Galieni, Piero; Angelini, Mario; Rossi, Davide; Spina, Valeria; Matos, Sónia; Martins, Vânia; Stokłosa, Tomasz; Pepek, Monika; Baliakas, Panagiotis; Andreu, Rafa; Luna, Irene; Kahre, Tiina; Murumets, Ülle; Pikousova, Tereza; Kurucova, Terezia; Laird, Sophie; Ward, Daniel; Alcoceba, Miguel; Balanzategui, Ana; Scarfo, Lydia; Gandini, Francesca; Zapparoli, Ettore; Blanco, Adoración; Abrisqueta, Pau; Rodríguez-Vicente, Ana E; Benito, Rocío; Bravetti, Clotilde; Davi, Frédéric; Gameiro, Paula; Martinez-Lopez, Joaquin; Tazón-Vega, Bárbara; Baran-Marszak, Fanny; Davis, Zadie; Catherwood, Mark; Sudarikov, Andrey; Rosenquist, Richard; Niemann, Carsten U; Stamatopoulos, Kostas; Ghia, Paolo; Pospisilova, Sarka

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease

DARS2基因双等位基因变异是轴突型夏科-马里-图斯病的新病因

Berta Estévez-Arias # ,Siiri Sarv # ,Nathalie Bonello-Palot ,Laura Carrera-García ,Carlos Ortez ,Jesica Expósito-Escudero ,Delia Yubero ,Jordi Muchart ,Emilien Delmont ,Eve Õiglane-Shlik ,Teele Meren ,Sanna Puusepp ,Ülle Murumets ,Gajja S Salomons ,Bjarne Udd ,Liis Väli ,Lara Cantarero ,Carsten G Bönnemann ,Andrés Nascimento ,Santiago Ramón-Maiques ,Katrin Õunap ,Janet Hoenicka # ,Daniel Natera-de Benito # ,Francesc Palau #

The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population

林奇综合征在患者和普通人群中的患病率和分子特征

Roht, Laura; Laidre, Piret; Tooming, Mikk; Tõnisson, Neeme; Nõukas, Margit; Nurm, Miriam; Estonian Biobank Research Team; 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

The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021

爱沙尼亚结直肠癌患者种系致病变异的患病率:2016-2021 年常规临床研究结果

Roht, Laura; Tooming, Mikk; Rekker, Kadri; Roomere, Hanno; Toome, Kadri; Murumets, Ülle; Šamarina, Ustina; Õunap, Katrin; Kahre, Tiina

Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting

精准的、以基因型为先导的乳腺癌预防:将单基因研究结果从人群生物样本库应用于临床实践的经验

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; Ülle Murumets; Kahre, Tiina; Kruuv-Käo, Krista; Õunap, Katrin; Padrik, Peeter; Metspalu, Andres; Esko, Tõnu; Fischer, Krista; Tõnisson, Neeme

Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report

通过卵胞浆内单精子注射受孕的46,XY核型女性胎儿患有SRY相关性腺发育不全的产前诊断:病例报告

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

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016

对1998年至2016年爱沙尼亚印记障碍患病率的回顾性分析

Yakoreva, Maria; Kahre, Tiina; Žordania, Riina; Reinson, Karit; Teek, Rita; Tillmann, Vallo; Peet, Aleksandr; Õiglane-Shlik, Eve; Pajusalu, Sander; Murumets, Ülle; Vals, Mari-Anne; Mee, Pille; Wojcik, Monica H; Õunap, Katrin

The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records

通过电子实验室记录评估爱沙尼亚苯丙酮尿症患者八年间的苯丙氨酸水平

Lilleväli, Hardo; Reinson, Karit; Muru, Kai; Saarsalu, Siret; Künnapas, Kadi; Kahre, Tiina; Murumets, Ülle; Õunap, Katrin

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

在爱沙尼亚,全外显子组测序对临床怀疑患有线粒体疾病但未确诊的患者具有诊断价值。

Puusepp, Sanna; Reinson, Karit; Pajusalu, Sander; Murumets, Ülle; Õiglane-Shlik, Eve; Rein, Reet; Talvik, Inga; Rodenburg, Richard J; Õunap, Katrin