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

Detection of Alport gene variants in children and young people with persistent haematuria

检测患有持续性血尿的儿童和青少年中的Alport基因变异

Ng, Natasha Su Lynn; Yamamura, Tomohiko; Shenoy, Mohan; Stuart, Helen M; Lennon, Rachel

Predicting congenital renal tract malformation genes using machine learning

利用机器学习预测先天性肾脏畸形基因

Kabir, Mitra; Stuart, Helen M; Lopes, Filipa M; Fotiou, Elisavet; Keavney, Bernard; Doig, Andrew J; Woolf, Adrian S; Hentges, Kathryn E

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

扩大泌尿面部综合征(一种以膀胱周围神经病变为特征的疾病)中HPSE2基因型谱

Beaman, Glenda M; Lopes, Filipa M; Hofmann, Aybike; Roesch, Wolfgang; Promm, Martin; Bijlsma, Emilia K; Patel, Chirag; Akinci, Aykut; Burgu, Berk; Knijnenburg, Jeroen; Ho, Gladys; Aufschlaeger, Christina; Dathe, Sylvia; Voelckel, Marie Antoinette; Cohen, Monika; Yue, Wyatt W; Stuart, Helen M; Mckenzie, Edward A; Elvin, Mark; Roberts, Neil A; Woolf, Adrian S; Newman, William G

Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome

早期B细胞因子3相关遗传疾病可模拟泌尿面部综合征

Harkness, J Robert; Beaman, Glenda M; Teik, Keng W; Sidhu, Sangeet; Sayer, John A; Cordell, Heather J; Thomas, Huw B; Wood, Katherine; Stuart, Helen M; Woolf, Adrian S; Newman, William G

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder

在泌尿面部综合征中发生突变的Lrig2和Hpse2基因决定了膀胱神经的分布模式。

Roberts, Neil A; Hilton, Emma N; Lopes, Filipa M; Singh, Subir; Randles, Michael J; Gardiner, Natalie J; Chopra, Karl; Coletta, Riccardo; Bajwa, Zunera; Hall, Robert J; Yue, Wyatt W; Schaefer, Franz; Weber, Stefanie; Henriksson, Roger; Stuart, Helen M; Hedman, Håkan; Newman, William G; Woolf, Adrian S

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction

BNC2基因的罕见变异与常染色体显性遗传性先天性下尿路梗阻有关

Kolvenbach, Caroline M; Dworschak, Gabriel C; Frese, Sandra; Japp, Anna S; Schuster, Peggy; Wenzlitschke, Nina; Yilmaz, Öznur; Lopes, Filipa M; Pryalukhin, Alexey; Schierbaum, Luca; van der Zanden, Loes F M; Kause, Franziska; Schneider, Ronen; Taranta-Janusz, Katarzyna; Szczepańska, Maria; Pawlaczyk, Krzysztof; Newman, William G; Beaman, Glenda M; Stuart, Helen M; Cervellione, Raimondo M; Feitz, Wouter F J; van Rooij, Iris A L M; Schreuder, Michiel F; Steffens, Martijn; Weber, Stefanie; Merz, Waltraut M; Feldkötter, Markus; Hoppe, Bernd; Thiele, Holger; Altmüller, Janine; Berg, Christoph; Kristiansen, Glen; Ludwig, Michael; Reutter, Heiko; Woolf, Adrian S; Hildebrandt, Friedhelm; Grote, Phillip; Zaniew, Marcin; Odermatt, Benjamin; Hilger, Alina C

Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?

类固醇抵抗性肾病综合征的基因检测:为什么、哪些人、何时以及如何进行?

Preston, Rebecca; Stuart, Helen M; Lennon, Rachel

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease

CHRM3基因中的纯合错义变异与家族性膀胱疾病相关

Beaman, Glenda M; Galatà, Gabriella; Teik, Keng W; Urquhart, Jill E; Aishah, Ali; O'Sullivan, James; Bhaskar, Sanjeev S; Wood, Katherine A; Thomas, Huw B; O'Keefe, Raymond T; Woolf, Adrian S; Stuart, Helen M; Newman, William G

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

毒蕈碱乙酰胆碱受体 M3 突变导致膀胱疾病和类似腹壁皱褶综合征

Weber Stefanie, Thiele Holger, Mir Sevgi, Toliat Mohammad Reza, Sozeri Betül, Reutter Heiko, Draaken Markus, Ludwig Michael, Altmüller Janine, Frommolt Peter, Stuart Helen M, Ranjzad Parisa, Hanley Neil A, Jennings Rachel, Newman William G, Wilcox Duncan T, Thiel Uwe, Schlingmann Karl Peter, Beetz Rolf, Hoyer Peter F, Konrad Martin, Schaefer Franz, Nürnberg Peter, Woolf Adrian S