Castori M - Search Results

1

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: castori m. Hum Genet. 2022 Feb;141(2):217-227. doi: 10.1007/s00439-021-02403-y. Epub 2021 Nov 25. Hum Genet. 2022. PMID: 34821995

2

A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.

Castori M, Brancati F, Mingarelli R, Mundlos S, Dallapiccola B. Castori M, et al. Am J Med Genet A. 2007 Jan 15;143A(2):195-9. doi: 10.1002/ajmg.a.31433. Am J Med Genet A. 2007. PMID: 17163524

3

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

Bernardini L, Castori M, Capalbo A, Mokini V, Mingarelli R, Simi P, Bertuccelli A, Novelli A, Dallapiccola B. Bernardini L, et al. Among authors: castori m. Am J Med Genet A. 2007 Dec 15;143A(24):2937-43. doi: 10.1002/ajmg.a.32092. Am J Med Genet A. 2007. PMID: 18000908

4

Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.

Laino L, Bottillo I, Piedimonte C, Bernardini L, Torres B, Grammatico B, Bargiacchi S, Mulargia C, Calvani M, Cardona F, Castori M, Grammatico P. Laino L, et al. Among authors: castori m. Eur J Paediatr Neurol. 2016 Nov;20(6):971-976. doi: 10.1016/j.ejpn.2016.07.003. Epub 2016 Jul 11. Eur J Paediatr Neurol. 2016. PMID: 27470653

5

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.

Ritelli M, Morlino S, Giacopuzzi E, Bernardini L, Torres B, Santoro G, Ravasio V, Chiarelli N, D'Angelantonio D, Novelli A, Grammatico P, Colombi M, Castori M. Ritelli M, et al. Among authors: castori m. Clin Genet. 2018 Jan;93(1):126-133. doi: 10.1111/cge.13032. Epub 2017 Aug 21. Clin Genet. 2018. PMID: 28386937

6

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.

Morlino S, Castori M, Dordoni C, Cinquina V, Santoro G, Grammatico P, Venturini M, Colombi M, Ritelli M. Morlino S, et al. Among authors: castori m. Eur J Hum Genet. 2018 Apr;26(4):582-586. doi: 10.1038/s41431-017-0079-x. Epub 2018 Feb 21. Eur J Hum Genet. 2018. PMID: 29467388 Free PMC article.

7

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.

Nardella G, Visci G, Guarnieri V, Castellana S, Biagini T, Bisceglia L, Palumbo O, Trivisano M, Vaira C, Scerrati M, Debrasi D, D'Angelo V, Carella M, Merla G, Mazza T, Castori M, D'Agruma L, Fusco C. Nardella G, et al. Among authors: castori m. Hum Mutat. 2018 Dec;39(12):1885-1900. doi: 10.1002/humu.23629. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30161288

8

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.

Palumbo P, Petracca A, Maggi R, Biagini T, Nardella G, Sacco MC, Di Schiavi E, Carella M, Micale L, Castori M. Palumbo P, et al. Among authors: castori m. Eur J Hum Genet. 2019 Jul;27(7):1113-1120. doi: 10.1038/s41431-019-0350-4. Epub 2019 Feb 20. Eur J Hum Genet. 2019. PMID: 30787447 Free PMC article.

9

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.

Fusco C, Nardella G, Fischetto R, Copetti M, Petracca A, Annunziata F, Augello B, D'Asdia MC, Petrucci S, Mattina T, Rella A, Cassina M, Bengala M, Biagini T, Causio FA, Caldarini C, Brancati F, De Luca A, Guarnieri V, Micale L, D'Agruma L, Castori M. Fusco C, et al. Among authors: castori m. Hum Mol Genet. 2019 Jul 1;28(13):2133-2142. doi: 10.1093/hmg/ddz046. Hum Mol Genet. 2019. PMID: 30806661

10

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders.

Fusco C, Morlino S, Micale L, Ferraris A, Grammatico P, Castori M. Fusco C, et al. Among authors: castori m. Genes (Basel). 2019 Jun 10;10(6):442. doi: 10.3390/genes10060442. Genes (Basel). 2019. PMID: 31185693 Free PMC article.

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