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

Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract.

人类肾脏和泌尿道先天性异常中茶衫锌指同源框 3 (TSHZ3) 基因的杂合变异

Kesdiren Esra, Martens Helge, Brand Frank, Werfel Lina, Wedekind Lukas, Trowe Mark-Oliver, Schmitz Jessica, Hennies Imke, Geffers Robert, Gucev Zoran, Seeman Tomáš, Schmidt Sonja, Tasic Velibor, Fasano Laurent, Bräsen Jan H, Kispert Andreas, Christians Anne, Haffner Dieter, Weber Ruthild G

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

罕见单核苷酸变异和拷贝数变异与先天性梗阻性尿路疾病的病因:对基因诊断的启示

Ahram, Dina F; Lim, Tze Y; Ke, Juntao; Jin, Gina; Verbitsky, Miguel; Bodria, Monica; Kil, Byum Hee; Chatterjee, Debanjana; Piva, Stacy E; Marasa, Maddalena; Zhang, Jun Y; Cocchi, Enrico; Caridi, Gianluca; Gucev, Zoran; Lozanovski, Vladimir J; Pisani, Isabella; Izzi, Claudia; Savoldi, Gianfranco; Gnutti, Barbara; Capone, Valentina P; Morello, William; Guarino, Stefano; Esposito, Pasquale; Lambert, Sarah; Radhakrishnan, Jai; Appel, Gerald B; Uy, Natalie S; Rao, Maya K; Canetta, Pietro A; Bomback, Andrew S; Nestor, Jordan G; Hays, Thomas; Cohen, David J; Finale, Carolina; Wijk, Joanna A E van; La Scola, Claudio; Baraldi, Olga; Tondolo, Francesco; Di Renzo, Dacia; Jamry-Dziurla, Anna; Pezzutto, Alessandro; Manca, Valeria; Mitrotti, Adele; Santoro, Domenico; Conti, Giovanni; Martino, Marida; Giordano, Mario; Gesualdo, Loreto; Zibar, Lada; Masnata, Giuseppe; Bonomini, Mario; Alberti, Daniele; La Manna, Gaetano; Caliskan, Yasar; Ranghino, Andrea; Marzuillo, Pierluigi; Kiryluk, Krzysztof; Krzemień, Grażyna; Miklaszewska, Monika; Lin, Fangming; Montini, Giovanni; Scolari, Francesco; Fiaccadori, Enrico; Arapović, Adela; Saraga, Marijan; McKiernan, James; Alam, Shumyle; Zaniew, Marcin; Szczepańska, Maria; Szmigielska, Agnieszka; Sikora, Przemysław; Drożdż, Dorota; Mizerska-Wasiak, Malgorzata; Mane, Shrikant; Lifton, Richard P; Tasic, Velibor; Latos-Bielenska, Anna; Gharavi, Ali G; Ghiggeri, Gian Marco; Materna-Kiryluk, Anna; Westland, Rik; Sanna-Cherchi, Simone

Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

RNPC3基因的致病性变异与垂体功能减退和原发性卵巢功能不全有关。

Akin, Leyla; Rizzoti, Karine; Gregory, Louise C; Corredor, Beatriz; Le Quesne Stabej, Polona; Williams, Hywel; Buonocore, Federica; Mouilleron, Stephane; Capra, Valeria; McGlacken-Byrne, Sinead M; Martos-Moreno, Gabriel Á; Azmanov, Dimitar N; Kendirci, Mustafa; Kurtoglu, Selim; Suntharalingham, Jenifer P; Galichet, Christophe; Gustincich, Stefano; Tasic, Velibor; Achermann, John C; Accogli, Andrea; Filipovska, Aleksandra; Tuilpakov, Anatoly; Maghnie, Mohamad; Gucev, Zoran; Gonen, Zeynep Burcin; Pérez-Jurado, Luis A; Robinson, Iain; Lovell-Badge, Robin; Argente, Jesús; Dattani, Mehul T

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers

南欧和东欧国家粘多糖贮积症的概况:来自19个专科中心的调查

Tylki-Szymańska, Anna; Almássy, Zsuzsanna; Christophidou-Anastasiadou, Violetta; Avdjieva-Tzavella, Daniela; Barisic, Ingeborg; Cerkauskiene, Rimante; Cuturilo, Goran; Djiordjevic, Maja; Gucev, Zoran; Hlavata, Anna; Kieć-Wilk, Beata; Magner, Martin; Pecin, Ivan; Plaiasu, Vasilica; Samardzic, Mira; Zafeiriou, Dimitrios; Zaganas, Ioannis; Lampe, Christina

Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries

中欧和东南欧国家粘多糖贮积症IVA酶替代疗法共识声明

Magner, Martin; Almássy, Zsuzsanna; Gucev, Zoran; Kieć-Wilk, Beata; Plaiasu, Vasilica; Tylki-Szymańska, Anna; Zafeiriou, Dimitrios; Zaganas, Ioannis; Lampe, Christina

Rare heterozygous GDF6 variants in patients with renal anomalies.

肾脏畸形患者中罕见的杂合 GDF6 变异

Martens Helge, Hennies Imke, Getwan Maike, Christians Anne, Weiss Anna-Carina, Brand Frank, Gjerstad Ann Christin, Christians Arne, Gucev Zoran, Geffers Robert, Seeman Tomáš, Kispert Andreas, Tasic Velibor, Bjerre Anna, Lienkamp Soeren S, Haffner Dieter, Weber Ruthild G

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

肾脏和泌尿系统先天性异常的拷贝数变异图谱

Verbitsky, Miguel; Westland, Rik; Perez, Alejandra; Kiryluk, Krzysztof; Liu, Qingxue; Krithivasan, Priya; Mitrotti, Adele; Fasel, David A; Batourina, Ekaterina; Sampson, Matthew G; Bodria, Monica; Werth, Max; Kao, Charlly; Martino, Jeremiah; Capone, Valentina P; Vivante, Asaf; Shril, Shirlee; Kil, Byum Hee; Marasà, Maddalena; Zhang, Jun Y; Na, Young-Ji; Lim, Tze Y; Ahram, Dina; Weng, Patricia L; Heinzen, Erin L; Carrea, Alba; Piaggio, Giorgio; Gesualdo, Loreto; Manca, Valeria; Masnata, Giuseppe; Gigante, Maddalena; Cusi, Daniele; Izzi, Claudia; Scolari, Francesco; van Wijk, Joanna A E; Saraga, Marijan; Santoro, Domenico; Conti, Giovanni; Zamboli, Pasquale; White, Hope; Drozdz, Dorota; Zachwieja, Katarzyna; Miklaszewska, Monika; Tkaczyk, Marcin; Tomczyk, Daria; Krakowska, Anna; Sikora, Przemyslaw; Jarmoliński, Tomasz; Borszewska-Kornacka, Maria K; Pawluch, Robert; Szczepanska, Maria; Adamczyk, Piotr; Mizerska-Wasiak, Malgorzata; Krzemien, Grazyna; Szmigielska, Agnieszka; Zaniew, Marcin; Dobson, Mark G; Darlow, John M; Puri, Prem; Barton, David E; Furth, Susan L; Warady, Bradley A; Gucev, Zoran; Lozanovski, Vladimir J; Tasic, Velibor; Pisani, Isabella; Allegri, Landino; Rodas, Lida M; Campistol, Josep M; Jeanpierre, Cécile; Alam, Shumyle; Casale, Pasquale; Wong, Craig S; Lin, Fangming; Miranda, Débora M; Oliveira, Eduardo A; Simões-E-Silva, Ana Cristina; Barasch, Jonathan M; Levy, Brynn; Wu, Nan; Hildebrandt, Friedhelm; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Materna-Kiryluk, Anna; Zhang, Feng; Hakonarson, Hakon; Papaioannou, Virginia E; Mendelsohn, Cathy L; Gharavi, Ali G; Sanna-Cherchi, Simone

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

全外显子组测序经常能检测到早发性肾结石和肾钙质沉着症的单基因病因。

Daga, Ankana; Majmundar, Amar J; Braun, Daniela A; Gee, Heon Yung; Lawson, Jennifer A; Shril, Shirlee; Jobst-Schwan, Tilman; Vivante, Asaf; Schapiro, David; Tan, Weizhen; Warejko, Jillian K; Widmeier, Eugen; Nelson, Caleb P; Fathy, Hanan M; Gucev, Zoran; Soliman, Neveen A; Hashmi, Seema; Halbritter, Jan; Halty, Margarita; Kari, Jameela A; El-Desoky, Sherif; Ferguson, Michael A; Somers, Michael J G; Traum, Avram Z; Stein, Deborah R; Daouk, Ghaleb H; Rodig, Nancy M; Katz, Avi; Hanna, Christian; Schwaderer, Andrew L; Sayer, John A; Wassner, Ari J; Mane, Shrikant; Lifton, Richard P; Milosevic, Danko; Tasic, Velibor; Baum, Michelle A; Hildebrandt, Friedhelm

Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region

巴尔干地区罗姆人患者中发现FANCA基因的新型创始突变(c.3446_3449dupCCCT)

Dimishkovska, Marija; Kotori, Vjosa Mulliqi; Gucev, Zoran; Kocheva, Svetlana; Polenakovic, Momir; Plaseska-Karanfilska, Dijana

IGF1R Gene Alterations in Children Born Small for Gestitional Age (SGA)

出生时小于胎龄儿(SGA)的IGF1R基因改变

Janchevska, Aleksandra; Krstevska-Konstantinova, Marina; Pfäffle, Heike; Schlicke, Marina; Laban, Nevenka; Tasic, Velibor; Gucev, Zoran; Mironska, Kristina; Dimovski, Aleksandar; Kratzsch, Jürgen; Klammt, Jürgen; Pfäffle, Roland