Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

12 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.
Malki L, Sarig O, Cesarato N, Mohamad J, Canter T, Assaf S, Pavlovsky M, Vodo D, Anis Y, Bihari O, Malovitski K, Gat A, Thiele H, White BEP, Samuelov L, Nanda A, Paller AS, Betz RC, Sprecher E. Malki L, et al. Among authors: cesarato n. Genet Med. 2020 Jul;22(7):1227-1234. doi: 10.1038/s41436-020-0794-5. Epub 2020 Apr 27. Genet Med. 2020. PMID: 32336749 Free PMC article.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Wang H, Humbatova A, Liu Y, Qin W, Lee M, Cesarato N, Kortüm F, Kumar S, Romano MT, Dai S, Mo R, Sivalingam S, Motameny S, Wu Y, Wang X, Niu X, Geng S, Bornholdt D, Kroisel PM, Tadini G, Walter SD, Hauck F, Girisha KM, Calza AM, Bottani A, Altmüller J, Buness A, Yang S, Sun X, Ma L, Kutsche K, Grzeschik KH, Betz RC, Lin Z. Wang H, et al. Among authors: cesarato n. Am J Hum Genet. 2020 Jul 2;107(1):34-45. doi: 10.1016/j.ajhg.2020.05.006. Epub 2020 Jun 3. Am J Hum Genet. 2020. PMID: 32497488 Free PMC article.
Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing.
Uddin SA, Cesarato N, Humbatova A, Schmidt A, urRehman F, Naeem M, Tareen AS, Wolf S, Panezai MA, Thiele H, Wali A, Fölster-Holst R, Basit S, Ayub M, Betz RC. Uddin SA, et al. Among authors: cesarato n. Acta Derm Venereol. 2020 Sep 30;100(16):adv00275. doi: 10.2340/00015555-3634. Acta Derm Venereol. 2020. PMID: 32926178 Free PMC article.
Additional causal SNRPE mutations in hereditary hypotrichosis simplex.
Pan C, Humbatova A, Zheng L, Cesarato N, Grimm C, Chen F, Blaumeiser B, Catalán-Lambán A, Patiño-García A, Fischer U, Cheng R, Li Y, Yu X, Yao Z, Li M, Betz RC. Pan C, et al. Among authors: cesarato n. Br J Dermatol. 2021 Aug;185(2):439-441. doi: 10.1111/bjd.20089. Epub 2021 May 25. Br J Dermatol. 2021. PMID: 33792916 No abstract available.
Cole disease due to a novel pathogenic variant in the ENPP1 gene.
Nanda A, Xiong X, AlLafi A, Cesarato N, Betz RC. Nanda A, et al. Among authors: cesarato n. J Eur Acad Dermatol Venereol. 2022 Jul;36(7):e559-e561. doi: 10.1111/jdv.18028. Epub 2022 Mar 8. J Eur Acad Dermatol Venereol. 2022. PMID: 35220637 No abstract available.
Phenotype diversity associated with TP63 mutations.
Schmetz A, Xiong X, Cesarato N, Basmanav FB, Gierthmuehlen P, Schaper J, Schlieper D, Wehner M, Thiele H, Frank J, Betz RC, Redler S. Schmetz A, et al. Among authors: cesarato n. J Dtsch Dermatol Ges. 2022 Jun;20(6):872-875. doi: 10.1111/ddg.14770. Epub 2022 May 20. J Dtsch Dermatol Ges. 2022. PMID: 35593033 No abstract available.
Phänotypische Vielfalt bei Varianten im TP63-Gen.
Schmetz A, Xiong X, Cesarato N, Basmanav FB, Gierthmuehlen P, Schaper J, Schlieper D, Wehner M, Thiele H, Frank J, Betz RC, Redler S. Schmetz A, et al. Among authors: cesarato n. J Dtsch Dermatol Ges. 2022 Jun;20(6):871-875. doi: 10.1111/ddg.14770_g. J Dtsch Dermatol Ges. 2022. PMID: 35711055 No abstract available.
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
Basmanav FB, Cesarato N, Kumar S, Borisov O, Kokordelis P, Ralser DJ, Wehner M, Axt D, Xiong X, Thiele H, Dolgin V, Gossmann Y, Fricker N, Dewenter MK, Weller K, Suri M, Reichenbach H, Oji V, Addor MC, Ramirez K, Stewart H, Garcia Bartels N, Weibel L, Wagner N, George S, Kilic A, Tantcheva-Poor I, Stewart A, Dikow N, Blaumeiser B, Medvecz M, Blume-Peytavi U, Farrant P, Grimalt R, Bertok S, Bradley L, Eskin-Schwartz M, Birk OS, Bygum A, Simon M, Krawitz P, Fischer C, Hamm H, Fritz G, Betz RC. Basmanav FB, et al. Among authors: cesarato n. JAMA Dermatol. 2022 Nov 1;158(11):1245-1253. doi: 10.1001/jamadermatol.2022.2319. JAMA Dermatol. 2022. PMID: 36044230 Free PMC article.
12 results