Ranieri C - Search Results

1

Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al.

Resta N, Calabrese O, Grossi V, Lugli L, Simone C, Ranieri C, Piglionica M, Lepore Signorile M, Rossi K, Carli D, Mussa A. Resta N, et al. Among authors: ranieri c. Genet Med. 2021 Nov;23(11):2223-2224. doi: 10.1038/s41436-021-01256-0. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234302 Free article. No abstract available.

2

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

Cappuccio G, Alagia M, D'Anna M, Ranieri C, Di Tommaso S, Bruno C, Fiorillo C, Pedemonte M, Loconte D, Della Casa R, Strisciuglio P, Ginocchio MI, Pinelli M, Resta N, Brunetti-Pierri N. Cappuccio G, et al. Among authors: ranieri c. Eur J Med Genet. 2017 Dec;60(12):655-657. doi: 10.1016/j.ejmg.2017.08.018. Epub 2017 Sep 1. Eur J Med Genet. 2017. PMID: 28867506

3

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

Ranieri C, Di Tommaso S, Loconte DC, Grossi V, Sanese P, Bagnulo R, Susca FC, Forte G, Peserico A, De Luisi A, Bartuli A, Selicorni A, Melis D, Lerone M, Praticò AD, Abbadessa G, Yu Y, Schwartz B, Ruggieri M, Simone C, Resta N. Ranieri C, et al. Neurogenetics. 2018 May;19(2):77-91. doi: 10.1007/s10048-018-0540-1. Epub 2018 Mar 16. Neurogenetics. 2018. PMID: 29549527 Free PMC article.

4

First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.

Leoni C, Gullo G, Resta N, Fagotti A, Onesimo R, Schwartz B, Kazakin J, Abbadessa G, Crown J, Collins CD, Ranieri C, Scambia G, Zampino G. Leoni C, et al. Among authors: ranieri c. Am J Med Genet A. 2019 Jul;179(7):1319-1324. doi: 10.1002/ajmg.a.61160. Epub 2019 May 6. Am J Med Genet A. 2019. PMID: 31058421

5

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.

Zollino M, Ranieri C, Grossi V, Leoni C, Lattante S, Mazzà D, Simone C, Resta N. Zollino M, et al. Among authors: ranieri c. Mol Genet Genomic Med. 2019 Aug;7(8):e845. doi: 10.1002/mgg3.845. Epub 2019 Jul 9. Mol Genet Genomic Med. 2019. PMID: 31290289 Free PMC article.

6

Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects.

Gentile M, Ranieri C, Loconte DC, Ponzi E, Ficarella R, Volpe P, Scalzo G, Lepore Signorile M, Grossi V, Cordella A, Ventola GM, Susca FC, Turchiano A, Simone C, Resta N. Gentile M, et al. Among authors: ranieri c. Clin Genet. 2021 Mar;99(3):425-429. doi: 10.1111/cge.13890. Epub 2020 Nov 30. Clin Genet. 2021. PMID: 33236357

7

The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.

Laforgia N, De Cosmo L, Palumbo O, Ranieri C, Sesta M, Capodiferro D, Pantaleo A, Iapicca P, Lastella P, Capozza M, Schettini F, Bukvic N, Bagnulo R, Resta N. Laforgia N, et al. Among authors: ranieri c. Genes (Basel). 2020 Dec 18;11(12):1519. doi: 10.3390/genes11121519. Genes (Basel). 2020. PMID: 33353066 Free PMC article.

8

A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.

Carli D, Ferrero GB, Fusillo A, Coppo P, La Selva R, Zinali F, Cardaropoli S, Ranieri C, Iacoviello M, Resta N, Mussa A. Carli D, et al. Among authors: ranieri c. Clin Genet. 2021 May;99(5):719-723. doi: 10.1111/cge.13931. Epub 2021 Feb 8. Clin Genet. 2021. PMID: 33506498

9

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome.

Forde K, Resta N, Ranieri C, Rea D, Kubassova O, Hinton M, Andrews KA, Semple R, Irvine AD, Dvorakova V. Forde K, et al. Among authors: ranieri c. Orphanet J Rare Dis. 2021 Feb 27;16(1):109. doi: 10.1186/s13023-021-01745-0. Orphanet J Rare Dis. 2021. PMID: 33639990 Free PMC article. Clinical Trial.

10

Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum.

Carli D, Kalantari S, Manicone R, Coppo P, Francia di Celle P, La Selva R, Santoro F, Ranieri C, Cardaropoli S, Fagioli F, Ferrero GB, Resta N, Mussa A. Carli D, et al. Among authors: ranieri c. Clin Genet. 2021 Nov;100(5):624-627. doi: 10.1111/cge.14047. Epub 2021 Aug 23. Clin Genet. 2021. PMID: 34402524

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