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

Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.

意大利北部 2 个患有 Dowling-Degos 病 4 型的家庭的遗传和表型特征

Tomasini Dario, Tomasini Carlo F, Michelerio Andrea, Arbustini Eloisa, Sirchia Fabio, Hotz Alrun, Fischer Judith, Rademacher Svenja

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case report

由新型桥粒芯蛋白-1突变引起的遗传性表皮松解性掌跖角化病:病例报告

Koschitzki, Kevin; Kurz, Bernadett; Schreml, Julia; Fischer, Judith; Hotz, Alrun; Hammers, Christoph M; Berneburg, Mark; Niebel, Dennis; Schreml, Stephan

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

ABCA12基因突变谱及64例常染色体隐性遗传性先天性鱼鳞病患者的基因型-表型相关性研究

Hotz, Alrun; Kopp, Julia; Bourrat, Emmanuelle; Oji, Vinzenz; Süßmuth, Kira; Komlosi, Katalin; Bouadjar, Bakar; Tantcheva-Poór, Iliana; Hellström Pigg, Maritta; Betz, Regina C; Giehl, Kathrin; Schedel, Fiona; Weibel, Lisa; Schulz, Solveig; Stölzl, Dora V; Tadini, Gianluca; Demiral, Emine; Berggard, Karin; Zimmer, Andreas D; Alter, Svenja; Fischer, Judith

Syndromic ichthyoses

综合征型鱼鳞病

Fischer, Judith; Hotz, Alrun; Komlosi, Katalin

Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

ACTG1相关Baraitser-Winter脑额面综合征的强迫症症状

Göbel, Theresa; Berninger, Lea; Schlump, Andrea; Feige, Bernd; Runge, Kimon; Nickel, Kathrin; Schiele, Miriam A; van Elst, Ludger Tebartz; Hotz, Alrun; Alter, Svenja; Domschke, Katharina; Tzschach, Andreas; Endres, Dominique

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients

对224例患者的大型队列中鉴定的ALOX12B或ALOXE3突变进行荟萃分析

Hotz, Alrun; Kopp, Julia; Bourrat, Emmanuelle; Oji, Vinzenz; Komlosi, Katalin; Giehl, Kathrin; Bouadjar, Bakar; Bygum, Anette; Tantcheva-Poor, Iliana; Hellström Pigg, Maritta; Has, Cristina; Yang, Zhou; Irvine, Alan D; Betz, Regina C; Zambruno, Giovanna; Tadini, Gianluca; Süßmuth, Kira; Gruber, Robert; Schmuth, Matthias; Mazereeuw-Hautier, Juliette; Jonca, Natalie; Guez, Sophie; Brena, Michela; Hernandez-Martin, Angela; van den Akker, Peter; Bolling, Maria C; Hannula-Jouppi, Katariina; Zimmer, Andreas D; Alter, Svenja; Vahlquist, Anders; Fischer, Judith

The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome

以228例遗传性乳腺癌和卵巢癌综合征患者队列为例,探讨运用当前分子遗传学方法进行扩展分析的重要性

Resch, Luise D; Hotz, Alrun; Zimmer, Andreas D; Komlosi, Katalin; Singh, Nina; Tzschach, Andreas; Windfuhr-Blum, Marisa; Juhasz-Boess, Ingolf; Erbes, Thalia; Fischer, Judith; Alter, Svenja

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.

3 号染色体母系同源二体性与 ABHD5 基因的新生突变相结合,导致常染色体隐性遗传的 Chanarin-Dorfman 综合征

Kopp Julia, Has Cristina, Hotz Alrun, Grünert Sarah C, Fischer Judith

Neonatal presentation of COG6-CDG with prominent skin phenotype

新生儿期COG6-CDG表现为显著的皮肤表型

Komlosi, Katalin; Gläser, Selina; Kopp, Julia; Hotz, Alrun; Alter, Svenja; Zimmer, Andreas D; Beger, Carmela; Heinzel, Stefan; Schmidt, Christoph; Fischer, Judith