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

CNSC-72. ADRENERGIC NEURONS OF THE LOCUS COERULEUS PROMOTE DIFFUSE MIDLINE GLIOMA GROWTH

CNSC-72. 蓝斑肾上腺素能神经元促进弥漫性中线胶质瘤生长

Lopes, Filipa M; Grenier, Celine; Jarvis, Benjamin W; Al Mahdy, Sara; Lène-McKay, Adrian; Gurney, Alison M; Newman, William G; Waddington, Simon N; Woolf, Adrian S; Roberts, Neil A; Noreen, Zarish; Mondal, Tanmoy; Moghekar, Abhay; Nunlee‐Blnad, Gail; Ghosh, Somiranjan Ghosh; Szulzewsky, Frank; Arora, Sonali; Arakaki, Aleena; Sievers, Philipp; Bonnin, Damian Almiron; Paddison, Patrick; Sahm, Felix; Cimino, Patrick; Gujral, Taranjit; Holland, Eric; Mader, Marius; Rodrigues, Adrian; Chernikova, Sophia; Wong, Zheng Hao Samuel; Wang, Yuelong; Petritsch, Claudia; Wernig, Marius; Gephart, Melanie Hayden; Gloria Byun, Youkyeong; Kim, Yoon Seok; Gavish, Avishai; Barron, Tara; Andini, Nadya; Ivec, Alexis; Drexler, Richard; Su, Minhui; Woo, Pamelyn; Geraghty, Anna; Logan, Natalie; Deisseroth, Karl; Monje, Michelle

Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele

ABL1单倍体不足与显性孤立性脐膨出相关。

Kolvenbach, Caroline M; Yilmaz, Öznur; Lopes, Filipa M; Kalanithy, Jeshurun C; Lemberg, Katharina; Sharma, Vineeta; Majmundar, Amar J; Geyer, Matthias; Woolf, Adrian S; Hildebrandt, Friedhelm; Odermatt, Benjamin; Reutter, Heiko

Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter and de novo SETBP1 mutation.

病例报告:伴有巨输尿管和新生 SETBP1 突变的 Schinzel-Giedion 综合征患者长期生存

Beaman Glenda M, Jarvis Benjamin W, Goyal Anju, Keene David J B, Cervellione Max, Lopes Filipa M, Metcalfe Kay A, Woolf Adrian S, Newman William G

Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease

LRIG2相关膀胱疾病中会出现神经源性缺陷

Grenier, Celine; Lopes, Filipa M; Cueto-González, Anna M; Rovira-Moreno, Eulàlia; Gander, Romy; Jarvis, Benjamin W; McCloskey, Karen D; Gurney, Alison M; Beaman, Glenda M; Newman, William G; Woolf, Adrian S; Roberts, Neil A

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

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

心肌蛋白功能缺失变异会导致人类和小鼠出现先天性巨膀胱。

Houweling, Arjan C; Beaman, Glenda M; Postma, Alex V; Gainous, T Blair; Lichtenbelt, Klaske D; Brancati, Francesco; Lopes, Filipa M; van der Made, Ingeborg; Polstra, Abeltje M; Robinson, Michael L; Wright, Kevin D; Ellingford, Jamie M; Jackson, Ashley R; Overwater, Eline; Genesio, Rita; Romano, Silvio; Camerota, Letizia; D'Angelo, Emanuela; Meijers-Heijboer, Elizabeth J; Christoffels, Vincent M; McHugh, Kirk M; Black, Brian L; Newman, William G; Woolf, Adrian S; Creemers, Esther E

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

Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies

人类泌尿系统先天性疾病:来自遗传学和分子生物学研究的最新见解

Woolf, Adrian S; Lopes, Filipa M; Ranjzad, Parisa; Roberts, Neil A