Alrun相关文献与解析，生知库 | 链接生命科学的每一步

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

发表日期：2024

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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

期刊:Genes

影响因子:2.8

doi:10.3390/genes14030717

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

ABCA1

发表日期：2023

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Syndromic ichthyoses

综合征型鱼鳞病

期刊:Medizinische Genetik

影响因子:1.4

doi:10.1515/medgen-2023-2006

Fischer, Judith; Hotz, Alrun; Komlosi, Katalin

发表日期：2023

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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

期刊:Journal of Neural Transmission

影响因子:4

doi:10.1007/s00702-022-02544-y

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

神经科学

发表日期：2022

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Management of herpesvirus reactivations in patients with solid tumours and hematologic malignancies: update of the Guidelines of the Infectious Diseases Working Party (AGIHO) of the German Society for Hematology and Medical Oncology (DGHO) on herpes simplex virus type 1, herpes simplex virus type 2, and varicella zoster virus

实体瘤和血液系统恶性肿瘤患者疱疹病毒再激活的管理：德国血液学和肿瘤内科学会 (DGHO) 传染病工作组 (AGIHO) 关于 1 型单纯疱疹病毒、2 型单纯疱疹病毒和水痘-带状疱疹病毒的指南更新

期刊:Annals of Hematology

影响因子:2.4

doi:10.1007/s00277-021-04746-y

Henze, Larissa; Buhl, Christoph; Sandherr, Michael; Cornely, Oliver A; Heinz, Werner J; Khodamoradi, Yascha; Kiderlen, Til Ramon; Koehler, Philipp; Seidler, Alrun; Sprute, Rosanne; Schmidt-Hieber, Martin; von Lilienfeld-Toal, Marie

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

期刊:Genes

影响因子:2.8

doi:10.3390/genes12010080

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

LOX

发表日期：2021

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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

期刊:Genes

影响因子:2.8

doi:10.3390/genes12101483

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

期刊:Genes

影响因子:2.8

doi:10.3390/genes12081164

Kopp Julia, Has Cristina, Hotz Alrun, GrÃ¼nert Sarah C, Fischer Judith

其它

发表日期：2021

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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

期刊:JIMD Reports

影响因子:1.8

doi:10.1002/jmd2.12154

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

发表日期：2020

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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

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

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

Syndromic ichthyoses

综合征型鱼鳞病

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

实体瘤和血液系统恶性肿瘤患者疱疹病毒再激活的管理：德国血液学和肿瘤内科学会 (DGHO) 传染病工作组 (AGIHO) 关于 1 型单纯疱疹病毒、2 型单纯疱疹病毒和水痘-带状疱疹病毒的指南更新

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

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

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

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