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

Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss

显性和隐性ATOH1变异会导致不同的神经发育障碍,并伴有听力损失。

Bertola, Nicole; Blondiaux, Eléonore; Harion, Madeleine; Dorboz, Imen; Passemard, Sandrine; Mercier, Sandra; Conrad, Solène; Cogné, Benjamin; Boyer, Julie; Uyttebroeck, Sophie; Van Schil, Kristof; Wuyts, Wim; Rendtorff, Nanna Dahl; Bertelsen, Mette; Mey, Kristianna; Blanc, Pierre; Champ, Jerome; Boespflug-Tanguy, Odile; Cantagrel, Vincent; Burglen, Lydie; Coolen, Marion

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration

BCOR(CRX/OTX2 的共抑制因子)的突变与早发性视网膜变性相关。

Maéva Langouët,Christine Jolicoeur,Awais Javed,Pierre Mattar,Micah D Gearhart,Stephen P Daiger,Mette Bertelsen,Lisbeth Tranebjærg,Nanna D Rendtorff,Karen Grønskov,Catherine Jespersgaard,Rui Chen,Zixi Sun,Hui Li,Najmeh Alirezaie,Jacek Majewski,Vivian J Bardwell,Ruifang Sui,Robert K Koenekoop,Michel Cayouette

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

对四名莫尔-特拉内比耶格综合征(MTS)患者的缺失断点进行鉴定和分析

Rendtorff, Nanna Dahl; Karstensen, Helena Gásdal; Lodahl, Marianne; Tolmie, John; McWilliam, Catherine; Bak, Mads; Tommerup, Niels; Nazaryan-Petersen, Lusine; Kunst, Henricus; Wong, Melanie; Joss, Shelagh; Carelli, Valerio; Tranebjærg, Lisbeth

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene

叉头盒 L1 (FOXL1) 的致病缺失确定了第一个耳硬化症 (OTSC) 基因

Nelly Abdelfatah, Ahmed A Mostafa, Curtis R French, Lance P Doucette, Cindy Penney, Matthew B Lucas, Anne Griffin, Valerie Booth, Christopher Rowley, Jessica E Besaw, Lisbeth Tranebjærg, Nanna Dahl Rendtorff, Kathy A Hodgkinson, Leichelle A Little, Sumit Agrawal, Lorne Parnes, Tony Batten, Susan Moo

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

长读测序揭示导致视锥-视杆营养不良和听力损失的 CEP78 复杂结构变异

Giulia Ascari, Nanna D Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Björn Menten, Alfredo Dueñas Rey, M

Functional assessment of variants associated with Wolfram syndrome

Wolfram 综合征相关变异的功能评估

Melissa Riachi, Sebahat Yilmaz, Erdal Kurnaz, Zehra Aycan, Semra Çetinkaya, Lisbeth Tranebjærg, Nanna Dahl Rendtorff, Maria Bitner-Glindzicz, Detlef Bockenhauer, Khalid Hussain

Pregnancies in Women Aged 45 Years and Older - a 10-Year Retrospective Analysis in Berlin

柏林一项为期10年的回顾性分析:45岁及以上女性的妊娠情况

Rendtorff, Rosa; Hinkson, Larry; Kiver, Verena; Dröge, Lisa Antonia; Henrich, Wolfgang

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

疑似RP1L1和C2orf71杂合无效突变在综合征性视网膜营养不良中的双基因遗传

Liu Yangfan P, Bosch Daniëlle G M, Siemiatkowska Anna M, Rendtorff Nanna Dahl, Boonstra F Nienke, Möller Claes, Tranebjærg Lisbeth, Katsanis Nicholas, Cremers Frans P M

Usher syndrome in Denmark: mutation spectrum and some clinical observations

丹麦的 Usher 综合征:突变谱及一些临床观察

Dad, Shzeena; Rendtorff, Nanna Dahl; Tranebjærg, Lisbeth; Grønskov, Karen; Karstensen, Helena Gásdal; Brox, Vigdis; Nilssen, Øivind; Roux, Anne-Françoise; Rosenberg, Thomas; Jensen, Hanne; Møller, Lisbeth Birk

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

在一个患有非综合征性听力障碍的丹麦大家族中发现了一个具有功能性 CD164 无义突变的新位点

Mette Nyegaard, Nanna D Rendtorff, Morten S Nielsen, Thomas J Corydon, Ditte Demontis, Anna Starnawska, Anne Hedemand, Annalisa Buniello, Francesco Niola, Michael T Overgaard, Suzanne M Leal, Wasim Ahmad, Friedrik P Wikman, Kirsten B Petersen, Dorthe G Crüger, Jaap Oostrik, Hannie Kremer, Niels Tomm