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A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family.
Published in:
2018
By:
- Glöcklhofer, Christina R;
- Steinfurt, Johannes;
- Franke, Gerlind;
- Hoppmann, Anselm;
- Glantschnig, Theresa;
- Perez-Feliz, Stefanie;
- Alter, Svenja;
- Fischer, Judith;
- Brunner, Michael;
- Rainer, Peter P;
- Köttgen, Anna;
- Bode, Christoph;
- Odening, Katja E
Publication type:
journal article
Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa Acquisita.
Published in:
2022
By:
- Schauer, Franziska;
- Nyström, Alexander;
- Kunz, Manfred;
- Hübner, Stefanie;
- Scholl, Sarah;
- Athanasiou, Ioannis;
- Alter, Svenja;
- Fischer, Judith;
- Has, Cristina;
- Kiritsi, Dimitra
Publication type:
Case Study
Novel VPS33B mutation in a patient with autosomal recessive keratoderma‐ichthyosis‐deafness syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2862, doi. 10.1002/ajmg.a.40634
By:
- Alter, Svenja;
- Hotz, Alrun;
- Jahn, Arne;
- Di Donato, Nataliya;
- Schröck, Evelin;
- Smitka, Martin;
- von der Hagen, Maja;
- Schallner, Jens;
- Menschikowski, Mario;
- Gillitzer, Claus;
- Laass, Martin W.;
- Fischer, Judith;
- Tzschach, Andreas
Publication type:
Article
Persistierende hyperkeratotische Plaques: Persistent hyperkeratotic plaques.
Published in:
Journal der Deutschen Dermatologischen Gesellschaft, 2024, v. 22, n. 3, p. 457, doi. 10.1111/ddg.15337_g
By:
- Schroeder, Julie Claude;
- Alter, Svenja;
- Fischer, Judith;
- Fölster‐Holst, Regina
Publication type:
Article
Persistent hyperkeratotic plaques.
Published in:
Journal der Deutschen Dermatologischen Gesellschaft, 2024, v. 22, n. 3, p. 457, doi. 10.1111/ddg.15337
By:
- Schroeder, Julie Claude;
- Alter, Svenja;
- Fischer, Judith;
- Fölster‐Holst, Regina
Publication type:
Article
Adding up the desmosomal genes causing syndromes with hair and skin involvement: identification of TUFT1 by state-of-the-art whole-genome sequencing.
Published in:
British Journal of Dermatology, 2023, v. 188, n. 1, p. 8, doi. 10.1093/bjd/ljac073
By:
- Fischer, Judith;
- Alter, Svenja
Publication type:
Article
Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.
Published in:
British Journal of Dermatology, 2023, v. 188, n. 1, p. 94, doi. 10.1093/bjd/ljac019
By:
- Jägle, Sabine;
- Hsu, Hao-Hsiang;
- Juratli, Hazem A;
- Zimmer, Andreas D;
- Prieschl, Amelie;
- Alter, Svenja;
- Wiedenhofer, Bernhard;
- Metze, Dieter;
- Emmert, Steffen;
- Fischer, Judith
Publication type:
Article
DroughtDB: an expert-curated compilation of plant drought stress genes and their homologs in nine species.
Published in:
Database: The Journal of Biological Databases & Curation, 2015, v. 2015, p. 1, doi. 10.1093/database/bav046
By:
- Alter, Svenja;
- Bader, Kai C.;
- Spannagl, Manuel;
- Yu Wang;
- Bauer, Eva;
- Schön, Chris-Carolin;
- Mayer, Klaus F. X.
Publication type:
Article
Neonatal presentation of COG6‐CDG with prominent skin phenotype.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 51, doi. 10.1002/jmd2.12154
By:
- Komlosi, Katalin;
- Gläser, Selina;
- Kopp, Julia;
- Hotz, Alrun;
- Alter, Svenja;
- Zimmer, Andreas D.;
- Beger, Carmela;
- Heinzel, Stefan;
- Schmidt, Christoph;
- Fischer, Judith
Publication type:
Article
Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families.
Published in:
Pediatric Dermatology, 2023, v. 40, n. 1, p. 113, doi. 10.1111/pde.15105
By:
- Li, Mingfeng;
- Fischer, Judith;
- Safwat, Sylvia;
- Shoman, Walaa;
- Chazli, Yasmine El;
- Alter, Svenja;
- Has, Cristina;
- Abdalla, Ebtesam
Publication type:
Article
SUPPRESSOR OF FRIGIDA (SUF<sub>4</sub>) Supports Gamete Fusion via Regulating Arabidopsis EC1 Gene Expression.
Published in:
Plant Physiology, 2017, v. 173, n. 1, p. 155, doi. 10.1104/pp.16.01024
By:
- Resentini, Francesca;
- Cyprys, Philipp;
- Steffen, Joshua G.;
- Alter, Svenja;
- Morandini, Piero;
- Mizzotti, Chiara;
- Lloyd, Alan;
- Drews, Gary N.;
- Dresselhaus, Thomas;
- Colombo, Lucia;
- Sprunck, Stefanie;
- Masiero, Simona
Publication type:
Article
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
Published in:
Human Mutation, 2018, v. 39, n. 10, p. 1305, doi. 10.1002/humu.23594
By:
- Hotz, Alrun;
- Bourrat, Emmanuelle;
- Küsel, Julia;
- Oji, Vinzenz;
- Alter, Svenja;
- Hake, Lisanne;
- Korbi, Mouna;
- Ott, Hagen;
- Hausser, Ingrid;
- Zimmer, Andreas D.;
- Fischer, Judith
Publication type:
Article
Fallbericht: Diagnostische und therapeutische Herausforderungen bei schwerer mechanobullöser Epidermolysis bullosa acquisita.
Published in:
Kompass Dermatologie, 2022, v. 10, n. 4, p. 218, doi. 10.1159/000527590
By:
- Schauer, Franziska;
- Nyström, Alexander;
- Kunz, Manfred;
- Hübner, Stefanie;
- Scholl, Sarah;
- Athanasiou, Ioannis;
- Alter, Svenja;
- Fischer, Judith;
- Has, Christina;
- Kiritsi, Dimitra
Publication type:
Article
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.
Published in:
2024
By:
- Hotz, Alrun;
- Fölster-Holst, Regina;
- Oji, Vinzenz;
- Bourrat, Emmanuelle;
- Frank, Jorge;
- Marrakchi, Slaheddine;
- Ennouri, Mariem;
- Wankner, Lotta;
- Komlosi, Katalin;
- Alter, Svenja;
- Fischer, Judith
Publication type:
Case Study
Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Published in:
Genes, 2023, v. 14, n. 3, p. 717, doi. 10.3390/genes14030717
By:
- 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
Publication type:
Article
First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant.
Published in:
2022
By:
- Alter, Svenja;
- Farassat, Navid;
- Küchlin, Sebastian;
- Lagrèze, Wolf A.;
- Fischer, Judith
Publication type:
Case Study
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.
Published in:
Genes, 2021, v. 12, n. 10, p. 1483, doi. 10.3390/genes12101483
By:
- 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
Publication type:
Article
Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Published in:
2022
By:
- 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
Publication type:
Case Study
The beginning of a seed: regulatory mechanisms of double fertilization.
Published in:
Frontiers in Plant Science, 2014, v. 5, p. 1, doi. 10.3389/fpls.2014.00452
By:
- Bleckmann, Andrea;
- Dresselhaus, Thomas;
- Alter, Svenja
Publication type:
Article

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