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

Diagnostic odyssey of a male with 45,X/46,XY mosaicism: case report and review of the literature

一名患有45,X/46,XY嵌合体的男性患者的诊断历程:病例报告及文献综述

Tjagur, Stanislav; Punab, Margus; Dutta, Avirup; Laan, Maris

Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility

DMRT1 DNA结合亲和力降低(由杂合DM结构域突变引起)是男性不育的原因之一。

Marić, Tihana; Castillo-Madeen, Helen; Klarić, Monika Logara; Barišić, Antun; Trgovec-Greif, Lovro; Murphy, Mark W; Juchnewitsch, Anna-Grete; Lillepea, Kristiina; Dutta, Avirup; Žunić, Lucija; Stendahl, Alexandra M; Punab, Margus; Pomm, Kristjan; Mendoza, Daniel M; Lopes, Alexandra M; Šorgić, Ana Merkler; Vugrek, Oliver; Gonçalves, Joao; Almstrup, Kristian; Aston, Kenneth I; Belužić, Robert; Ježek, Davor; Bertoša, Branimir; Laan, Maris; Bojanac, Ana Katušić; Conrad, Donald F; Barbalić, Maja

Significantly increased load of hereditary cancer-linked germline variants in infertile men

不育男性体内遗传性癌症相关种系变异的负荷显著增加

Valkna, Anu; Juchnewitsch, Anna-Grete; Põlluaas, Lisanna; Lillepea, Kristiina; Tjagur, Stanislav; Dutta, Avirup; Pomm, Kristjan; Punab, Margus; Laan, Maris

Hyponatremia, hypernatremia and impairment of functional, psychological and sexual domains

低钠血症、高钠血症以及功能、心理和性方面的损害

Norello, D; Rastrelli, G; Antonio, L; Bartfai, G; Casanueva, F F; Giwercman, A; Huhtaniemi, I T; O'Neill, T W; Punab, M; Slowikowska-Hilczer, J; Tournoy, J; Vanderschueren, D; Wu, F C W; Maggi, M; Peri, A

Toward clinical exomes in diagnostics and management of male infertility

迈向临床外显子组在男性不育症诊断和治疗中的应用

Lillepea, Kristiina; Juchnewitsch, Anna-Grete; Kasak, Laura; Valkna, Anu; Dutta, Avirup; Pomm, Kristjan; Poolamets, Olev; Nagirnaja, Liina; Tamp, Erik; Mahyari, Eisa; Vihljajev, Vladimir; Tjagur, Stanislav; Papadimitriou, Sofia; Riera-Escamilla, Antoni; Versbraegen, Nassim; Farnetani, Ginevra; Castillo-Madeen, Helen; Sütt, Mailis; Kübarsepp, Viljo; Tennisberg, Sven; Korrovits, Paul; Krausz, Csilla; Aston, Kenneth I; Lenaerts, Tom; Conrad, Donald F; Punab, Margus; Laan, Maris

Thiopurine Enhanced ALL Maintenance (TEAM): study protocol for a randomized study to evaluate the improvement in disease-free survival by adding very low dose 6-thioguanine to 6-mercaptopurine/methotrexate-based maintenance therapy in pediatric and adult patients (0-45 years) with newly diagnosed B-cell precursor or T-cell acute lymphoblastic leukemia treated according to the intermediate risk-high group of the ALLTogether1 protocol

硫嘌呤增强急性淋巴细胞白血病维持治疗(TEAM):一项随机研究方案,旨在评估在接受基于 6-巯基嘌呤/甲氨蝶呤的维持治疗方案中,加用极低剂量 6-硫鸟嘌呤能否改善新诊断的 B 细胞前体或 T 细胞急性淋巴细胞白血病(ALL)患儿(0-45 岁)的无病生存期。这些患儿均按照 ALLTogether1 方案的中危-高危组进行治疗。

Toksvang, Linea Natalie; Als-Nielsen, Bodil; Bacon, Christopher; Bertasiute, Ruta; Duarte, Ximo; Escherich, Gabriele; Helgadottir, Elín Anna; Johannsdottir, Inga Rinvoll; Jónsson, Ólafur G; Kozlowski, Piotr; Langenskjöld, Cecilia; Lepik, Kristi; Niinimäki, Riitta; Overgaard, Ulrik Malthe; Punab, Mari; Räty, Riikka; Segers, Heidi; van der Sluis, Inge; Smith, Owen Patrick; Strullu, Marion; Vaitkevičienė, Goda; Wik, Hilde Skuterud; Heyman, Mats; Schmiegelow, Kjeld

Association of age, hormonal, and lifestyle factors with the Leydig cell biomarker INSL3 in aging men from the European Male Aging Study cohort

欧洲男性衰老研究队列中老年男性睾丸间质细胞生物标志物INSL3与年龄、激素和生活方式因素的关联

Anand-Ivell, Ravinder; Heng, Kee; Severn, Katie; Antonio, Leen; Bartfai, Gyorgy; Casanueva, Felipe F; Huhtaniemi, Ilpo T; Giwercman, Aleksander; Maggi, Mario; O'Neill, Terence W; Punab, Margus; Rastrelli, Giulia; Slowikowska-Hilczer, Jolanta; Tournoy, Jos; Vanderschueren, Dirk; Wu, Frederick C W; Ivell, Richard

Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management

对 836 例非梗阻性无精子症患者进行外显子组测序后,得出可操作的次要发现及其在患者管理中的价值

Kasak, Laura; Lillepea, Kristiina; Nagirnaja, Liina; Aston, Kenneth I; Schlegel, Peter N; Gonçalves, João; Carvalho, Filipa; Moreno-Mendoza, Daniel; Almstrup, Kristian; Eisenberg, Michael L; Jarvi, Keith A; O'Bryan, Moira K; Lopes, Alexandra M; Conrad, Donald F; Punab, Margus; Laan, Maris

The Leydig cell biomarker INSL3 as a predictor of age-related morbidity: Findings from the EMAS cohort

睾丸间质细胞生物标志物INSL3作为年龄相关疾病的预测因子:来自EMAS队列的研究结果

Ivell, Richard; Heng, Kee; Severn, Katie; Antonio, Leen; Bartfai, Gyorgy; Casanueva, Felipe F; Huhtaniemi, Ilpo T; Giwercman, Aleksander; Maggi, Mario; O'Connor, Daryl B; O'Neill, Terence W; Punab, Margus; Rastrelli, Giulia; Slowikowska-Hilczer, Jolanta; Tournoy, Jos; Vanderschueren, Dirk; Wu, Frederick C W; Anand-Ivell, Ravinder

Translational aspects of novel findings in genetics of male infertility-status quo 2021

男性不育症遗传学新发现的转化应用——2021年现状

Laan, Maris; Kasak, Laura; Punab, Margus