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

LTβR deficiency causes lymph node aplasia and impaired B cell differentiation.

LTβR 缺乏会导致淋巴结发育不全和 B 细胞分化受损

Ransmayr Bernhard, Bal Sevgi Köstel, Thian Marini, Svaton Michael, van de Wetering Cheryl, Hafemeister Christoph, Segarra-Roca Anna, Block Jana, Frohne Alexandra, Krolo Ana, Altunbas Melek Yorgun, Bilgic-Eltan Sevgi, Kıykım Ayça, Aydiner Omer, Kesim Selin, Inanir Sabahat, Karakoc-Aydiner Elif, Ozen Ahmet, Aba Ümran, Çomak Aylin, Tuğcu Gökçen Dilşa, Pazdzior Robert, Huber Bettina, Farlik Matthias, Kubicek Stefan, von Bernuth Horst, Simonitsch-Klupp Ingrid, Rizzi Marta, Halbritter Florian, Tumanov Alexei V, Kraakman Michael J, Metin Ayşe, Castanon Irinka, Erman Baran, Baris Safa, Boztug Kaan

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes

一项针对中欧遗传性球形红细胞症患者的单中心队列研究揭示了新型致病基因型的高频率。

Kager, Leo; Jimenez-Heredia, Raúl; Zeitlhofer, Petra; Novak, Wolfgang; Eder, Sebastian K; Segarra-Roca, Anna; Frohne, Alexandra; Nebral, Karin; Haimel, Matthias; Geyeregger, René; Roetzer-Londgin, Katharina; Haas, Oskar A; Boztug, Kaan

Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion

RIPK1 部分缺失婴儿的极早期炎症性肠病

Tuna Kırsaçlıoğlu, Ceyda; Frohne, Alexandra; Kuloğlu, Zarife; Kristofersdottir, Isidora; Demir, Engin; Altuntaş, Cansu; Haskoloğlu, Zehra Şule; Çobanoğlu, Fatma Nazan; Kendirli, Tanıl; Özdemir, Halil; Özçakar, Zeynep Birsin; Savaş, Berna; Doğu, Figen; İkincioğulları, Aydan; Boztug, Kaan; Kansu, Aydan

Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria

奥地利显性非综合征型听力损失患者的突变谱

Frohne, Alexandra; Vrabel, Sybille; Laccone, Franco; Neesen, Juergen; Roesch, Sebastian; Dossena, Silvia; Schoefer, Christian; Frei, Klemens; Parzefall, Thomas

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases

磷酸羟戊酸激酶缺乏症扩大了系统性自身炎症性疾病的遗传谱。

Berner, Jakob; van de Wetering, Cheryl; Jimenez Heredia, Raul; Rashkova, Christina; Ferdinandusse, Sacha; Koster, Janet; Weiss, Johannes G; Frohne, Alexandra; Giuliani, Sarah; Waterham, Hans R; Castanon, Irinka; Brunner, Jürgen; Boztug, Kaan

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

在以感音神经性听力损失为主要表现的患者中,AP3D1基因纯合错义变异是一种常见现象。

Frohne, Alexandra; Koenighofer, Martin; Cetin, Hakan; Nieratschker, Michael; Liu, David T; Laccone, Franco; Neesen, Juergen; Nemec, Stefan F; Schwarz-Nemec, Ursula; Schoefer, Christian; Avraham, Karen B; Frei, Klemens; Grabmeier-Pfistershammer, Katharina; Kratzer, Bernhard; Schmetterer, Klaus; Pickl, Winfried F; Parzefall, Thomas

Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature

两名患有联合免疫缺陷和儿童大疱性类天疱疮的兄弟姐妹中发现新的PGM3突变:病例报告及文献综述

Fallahi, Mazdak; Jamee, Mahnaz; Enayat, Javad; Abdollahimajd, Fahimeh; Mesdaghi, Mehrnaz; Khoddami, Maliheh; Segarra-Roca, Anna; Frohne, Alexandra; Dmytrus, Jasmin; Keramatipour, Mohammad; Mansouri, Mahboubeh; Eslamian, Golnaz; Fallah, Shahrzad; Boztug, Kaan; Chavoshzadeh, Zahra

Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma

一种新型SDHD变异导致家族性头颈部副神经节瘤,其外显率不完全。

Koenighofer, Martin; Parzefall, Thomas; Frohne, Alexandra; Frei, Elisabeth; Schoefer, Christian; Laccone, Franco; Feil, Patricia; Frei, Klemens; Lucas, Trevor

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation

TBC1D24脂质结合口袋中的一种新型变异导致常染色体显性遗传性听力损失:基因型-表型相关性的证据

Parzefall, Thomas; Frohne, Alexandra; Koenighofer, Martin; Neesen, Juergen; Laccone, Franco; Eckl-Dorna, Julia; Waters, Jonathan J; Schreiner, Markus; Amr, Sami Samir; Ashton, Emma; Schoefer, Christian; Gstœttner, Wolfgang; Frei, Klemens; Lucas, Trevor

Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss

通过全外显子组测序鉴定出一种罕见的COCH基因突变:对奥地利一个患有非综合征型常染色体显性遗传性晚发性听力损失的家庭进行个性化治疗康复的意义

Parzefall, Thomas; Frohne, Alexandra; Koenighofer, Martin; Kirchnawy, Andreas; Streubel, Berthold; Schoefer, Christian; Gstoettner, Wolfgang; Frei, Klemens; Lucas, Trevor