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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

40 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, Petrizzelli F, Tripodi M, Pinna V, Zanobio M, Rotundo G, Bellacchio E, Lepri F, Farina A, D'Asdia MC, Piceci-Sparascio F, Biagini T, Petracca A, Castori M, Melis D, Accadia M, Traficante G, Tarani L, Fontana P, Sirchia F, Paparella R, Currò A, Benedicenti F, Scala I, Dentici ML, Leoni C, Trevisan V, Cecconi A, Giustini S, Pizzuti A, Salviati L, Novelli A, Zampino G, Zenker M, Genuardi M, Digilio MC, Papi L, Perrotta S, Nigro V, Castellanos E, Mazza T, Trevisson E, Tartaglia M, Piluso G, De Luca A. Mastromoro G, et al. Among authors: rotundo g. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257
Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA).
Bidollari E, Rotundo G, Altieri F, Amicucci M, Wiquel D, Ferrari D, Goldoni M, Bernardini L, Consoli F, De Luca A, Fanelli S, Lamorte G, D'Agruma L, Vescovi AL, Squitieri F, Rosati J. Bidollari E, et al. Among authors: rotundo g. Stem Cell Res. 2019 Oct;40:101551. doi: 10.1016/j.scr.2019.101551. Epub 2019 Aug 27. Stem Cell Res. 2019. PMID: 31493762 Free article.
Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage.
Bidollari E, Rotundo G, Ferrari D, Candido O, Bernardini L, Consoli F, De Luca A, Santimone I, Lamorte G, Ilari A, Squitieri F, Vescovi AL, Rosati J. Bidollari E, et al. Among authors: rotundo g. Stem Cell Res. 2018 Apr;28:145-148. doi: 10.1016/j.scr.2018.02.014. Epub 2018 Feb 21. Stem Cell Res. 2018. PMID: 29486399 Free article.
Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).
Casamassa A, Rotundo G, Ceresoni C, Turco EM, Torrente I, Candido O, Nicita F, Tonduti D, Bertini E, Marano M, Ferrari D, Cereda C, Pennuto M, Vescovi AL, Carelli S, Rosati J. Casamassa A, et al. Among authors: rotundo g. Stem Cell Res. 2024 Aug;78:103468. doi: 10.1016/j.scr.2024.103468. Epub 2024 Jun 6. Stem Cell Res. 2024. PMID: 38852424 Free article.
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.
Rotundo G, Turco EM, Ruotolo G, Torrente I, Candido O, Lopez G, Ferrari D, Caputi C, Mastrangelo M, Pisani F, Gelati M, Guarnieri V, Vescovi AL, Rosati J. Rotundo G, et al. Stem Cell Res. 2023 Mar;67:103023. doi: 10.1016/j.scr.2023.103023. Epub 2023 Jan 7. Stem Cell Res. 2023. PMID: 36638628 Free article.
Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3.
Maria Turco E, Maria Giada Giovenale A, Rotundo G, Mazzoni M, Zanfardino P, Frezza K, Torrente I, Mary Carletti R, Damiani D, Santorelli FM, Luigi Vescovi A, Petruzzella V, Rosati J. Maria Turco E, et al. Among authors: rotundo g. Stem Cell Res. 2022 Dec;65:102946. doi: 10.1016/j.scr.2022.102946. Epub 2022 Oct 17. Stem Cell Res. 2022. PMID: 36272304 Free article.
40 results