Alter S - Search Results

1

Schroeder JC, Alter S, Fischer J, Fölster-Holst R. Schroeder JC, et al. Among authors: alter s. J Dtsch Dermatol Ges. 2024 Mar;22(3):457-461. doi: 10.1111/ddg.15337. Epub 2024 Feb 29. J Dtsch Dermatol Ges. 2024. PMID: 38419592 Catalan, English. No abstract available.

2

A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family.

Glöcklhofer CR, Steinfurt J, Franke G, Hoppmann A, Glantschnig T, Perez-Feliz S, Alter S, Fischer J, Brunner M, Rainer PP, Köttgen A, Bode C, Odening KE. Glöcklhofer CR, et al. Among authors: alter s. Europace. 2018 Dec 1;20(12):2003-2013. doi: 10.1093/europace/euy127. Europace. 2018. PMID: 29947763

3

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.

Hotz A, Bourrat E, Küsel J, Oji V, Alter S, Hake L, Korbi M, Ott H, Hausser I, Zimmer AD, Fischer J. Hotz A, et al. Among authors: alter s. Hum Mutat. 2018 Oct;39(10):1305-1313. doi: 10.1002/humu.23594. Epub 2018 Aug 7. Hum Mutat. 2018. PMID: 30011118

4

Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia.

Heinz L, Bourrat E, Vabres P, Thevenon J, Hotz A, Hörer S, Küsel J, Zimmer AD, Alter S, Happle R, Fischer J. Heinz L, et al. Among authors: alter s. Br J Dermatol. 2019 Mar;180(3):657-661. doi: 10.1111/bjd.17024. Epub 2018 Sep 30. Br J Dermatol. 2019. PMID: 30022487

5

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.

Alter S, Hotz A, Jahn A, Di Donato N, Schröck E, Smitka M, von der Hagen M, Schallner J, Menschikowski M, Gillitzer C, Laass MW, Fischer J, Tzschach A. Alter S, et al. Am J Med Genet A. 2018 Dec;176(12):2862-2866. doi: 10.1002/ajmg.a.40634. Epub 2018 Dec 18. Am J Med Genet A. 2018. PMID: 30561130 Review.

6

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1.

Alter S, Zimmer AD, Park M, Gong J, Caliebe A, Fölster-Holst R, Torrelo A, Colmenero I, Steinberg SF, Fischer J. Alter S, et al. J Med Genet. 2021 Jun;58(6):415-421. doi: 10.1136/jmedgenet-2019-106564. Epub 2020 Aug 17. J Med Genet. 2021. PMID: 32817298

7

Neonatal presentation of COG6-CDG with prominent skin phenotype.

Komlosi K, Gläser S, Kopp J, Hotz A, Alter S, Zimmer AD, Beger C, Heinzel S, Schmidt C, Fischer J. Komlosi K, et al. Among authors: alter s. JIMD Rep. 2020 Aug 7;55(1):51-58. doi: 10.1002/jmd2.12154. eCollection 2020 Sep. JIMD Rep. 2020. PMID: 32905044 Free PMC article.

8

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.

Resch LD, Hotz A, Zimmer AD, Komlosi K, Singh N, Tzschach A, Windfuhr-Blum M, Juhasz-Boess I, Erbes T, Fischer J, Alter S. Resch LD, et al. Among authors: alter s. Genes (Basel). 2021 Sep 24;12(10):1483. doi: 10.3390/genes12101483. Genes (Basel). 2021. PMID: 34680878 Free PMC article.

9

First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant.

Alter S, Farassat N, Küchlin S, Lagrèze WA, Fischer J. Alter S, et al. Genes (Basel). 2022 Mar 8;13(3):478. doi: 10.3390/genes13030478. Genes (Basel). 2022. PMID: 35328032 Free PMC article.

10

Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa Acquisita.

Schauer F, Nyström A, Kunz M, Hübner S, Scholl S, Athanasiou I, Alter S, Fischer J, Has C, Kiritsi D. Schauer F, et al. Among authors: alter s. Front Immunol. 2022 Apr 7;13:883967. doi: 10.3389/fimmu.2022.883967. eCollection 2022. Front Immunol. 2022. PMID: 35464429 Free PMC article.

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