Castori M - Search Results

1

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

2

Molecular characterization of 11 Italian patients with Darier disease.

Pedace L, Barboni L, Pozzetto E, Amantea A, Zambruno G, Preziosi N, Benedicenti F, Boni S, De Brasi D, Panetta C, Ferraro C, De Bernardo C, Castori M, Grammatico P. Pedace L, et al. Among authors: castori m. Eur J Dermatol. 2011 May-Jun;21(3):334-8. doi: 10.1684/ejd.2011.1339. Eur J Dermatol. 2011. PMID: 21527373

3

Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass.

Guarnieri V, Castori M. Guarnieri V, et al. Among authors: castori m. Curr Osteoporos Rep. 2018 Aug;16(4):333-343. doi: 10.1007/s11914-018-0460-x. Curr Osteoporos Rep. 2018. PMID: 29915965 Review.

4

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Castori M, Ott CE, Bisceglia L, Leone MP, Mazza T, Castellana S, Tomassi J, Lanciotti S, Mundlos S, Hennekam RC, Kornak U, Brancati F. Castori M, et al. Am J Med Genet A. 2018 Sep;176(9):2028-2033. doi: 10.1002/ajmg.a.40379. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194892

5

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.

6

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

7

Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2.

Guarnieri V, Morlino S, Di Stolfo G, Mastroianno S, Mazza T, Castori M. Guarnieri V, et al. Among authors: castori m. Am J Med Genet A. 2019 May;179(5):846-851. doi: 10.1002/ajmg.a.61100. Epub 2019 Mar 1. Am J Med Genet A. 2019. PMID: 30821104

8

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.

9

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: castori m. Hum Mutat. 2019 Oct;40(10):1886-1898. doi: 10.1002/humu.23834. Epub 2019 Jun 27. Hum Mutat. 2019. PMID: 31250519

10

Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.

Fusco C, Copetti M, Mazza T, Amoruso L, Mastroianno S, Nardella G, Guarnieri V, Micale L, D'Agruma L, Castori M. Fusco C, et al. Among authors: castori m. Hum Mutat. 2019 Nov;40(11):e24-e36. doi: 10.1002/humu.23851. Hum Mutat. 2019. PMID: 31254430

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