Notarangelo A - Search Results

1

Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene.

Tesolin P, Morgan A, Notarangelo M, Ortore RP, Concas MP, Notarangelo A, Girotto G. Tesolin P, et al. Among authors: notarangelo a. Genes (Basel). 2021 Jul 6;12(7):1043. doi: 10.3390/genes12071043. Genes (Basel). 2021. PMID: 34356059 Free PMC article.

2

A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.

Precone V, Notarangelo A, Marceddu G, D'Agruma L, Cannarella R, Calogero AE, Cristofoli F, Guerri G, Paolacci S, Castori M, Bertelli M. Precone V, et al. Among authors: notarangelo a. Minerva Endocrinol (Torino). 2022 Mar;47(1):4-10. doi: 10.23736/S2724-6507.21.03477-1. Epub 2021 May 14. Minerva Endocrinol (Torino). 2022. PMID: 33988008

3

Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.

Micale L, Cialfi S, Fusco C, Cinque L, Castellana S, Biagini T, Talora C, Notarangelo A, Bisceglia L, Taruscio D, Salvatore M, Castori M. Micale L, et al. Among authors: notarangelo a. Hum Mol Genet. 2020 Nov 4;29(18):3122-3131. doi: 10.1093/hmg/ddaa195. Hum Mol Genet. 2020. PMID: 32959051

4

Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation.

Pollini D, Loffredo R, Cardano M, Conti L, Lattante S, Notarangelo A, Sabatelli M, Provenzani A. Pollini D, et al. Among authors: notarangelo a. Stem Cell Res. 2018 Dec;33:146-150. doi: 10.1016/j.scr.2018.10.011. Epub 2018 Oct 6. Stem Cell Res. 2018. PMID: 30366341 Free article.

5

Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.

Guarnieri V, Canaff L, Yun FH, Scillitani A, Battista C, Muscarella LA, Wong BY, Notarangelo A, D'Agruma L, Sacco M, Cole DE, Hendy GN. Guarnieri V, et al. Among authors: notarangelo a. J Clin Endocrinol Metab. 2010 Apr;95(4):1819-29. doi: 10.1210/jc.2008-2430. Epub 2010 Feb 17. J Clin Endocrinol Metab. 2010. PMID: 20164288

6

Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation.

Fusco C, Nardella G, Augello B, Boccafoschi F, Palumbo O, Fusaro L, Notarangelo A, Barbano R, Parrella P, Annicchiarico G, De Meco C, Micale L, Graziano P, Castori M. Fusco C, et al. Among authors: notarangelo a. Int J Mol Sci. 2020 Jul 20;21(14):5141. doi: 10.3390/ijms21145141. Int J Mol Sci. 2020. PMID: 32698527 Free PMC article.

7

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.

Cinque L, Micale L, Manara E, Esposito A, Palumbo O, Chiariello AM, Bianco S, Guerri G, Bertelli M, Giuffrida MG, Bernardini L, Notarangelo A, Nicodemi M, Castori M. Cinque L, et al. Among authors: notarangelo a. Hum Genet. 2022 Feb;141(2):217-227. doi: 10.1007/s00439-021-02403-y. Epub 2021 Nov 25. Hum Genet. 2022. PMID: 34821995

8

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.

Morlino S, Carbone A, Ritelli M, Fusco C, Giambra V, Nardella G, Notarangelo A, Panelli P, Mazzoccoli G, Zoppi N, Grammatico P, Wade EM, Colombi M, Castori M, Micale L. Morlino S, et al. Among authors: notarangelo a. Hum Mutat. 2019 Oct;40(10):1886-1898. doi: 10.1002/humu.23834. Epub 2019 Jun 27. Hum Mutat. 2019. PMID: 31250519

9

Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy.

Micale L, Morlino S, Biagini T, Carbone A, Fusco C, Ritelli M, Giambra V, Zoppi N, Nardella G, Notarangelo A, Schirizzi A, Mazzoccoli G, Grammatico P, Wade EM, Mazza T, Colombi M, Castori M. Micale L, et al. Among authors: notarangelo a. Biochim Biophys Acta Mol Basis Dis. 2020 Jun 1;1866(6):165742. doi: 10.1016/j.bbadis.2020.165742. Epub 2020 Feb 24. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32105826 Free article.

10

Complications related to in vitro reproductive techniques support the implementation of natural procreative technologies.

Kiani AK, Paolacci S, Scanzano P, Michelini S, Capodicasa N, D'Agruma L, Notarangelo A, Tonini G, Piccinelli D, Farshid KR, Petralia P, Fulcheri E, Chiurazzi P, Terranova C, Plotti F, Angioli R, Castori M, Bertelli M. Kiani AK, et al. Among authors: notarangelo a. Acta Biomed. 2020 Nov 9;91(13-S):e2020018. doi: 10.23750/abm.v91i13-S.10525. Acta Biomed. 2020. PMID: 33170179 Free PMC article. Review.

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