Castorina P - Search Results

1

Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome.

Riva P, Castorina P, Manoukian S, Dalprà L, Doneda L, Marini G, den Dunnen J, Larizza L. Riva P, et al. Among authors: castorina p. Hum Genet. 1996 Dec;98(6):646-50. doi: 10.1007/s004390050277. Hum Genet. 1996. PMID: 8931693

2

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

Riva P, Corrado L, Natacci F, Castorina P, Wu BL, Schneider GH, Clementi M, Tenconi R, Korf BR, Larizza L. Riva P, et al. Among authors: castorina p. Am J Hum Genet. 2000 Jan;66(1):100-9. doi: 10.1086/302709. Am J Hum Genet. 2000. PMID: 10631140 Free PMC article.

3

Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome.

Castorina P, Selicorni A, Bedeschi F, Dalprà L, Larizza L. Castorina P, et al. Am J Med Genet. 1997 Mar 3;69(1):107-11. doi: 10.1002/(sici)1096-8628(19970303)69:1<107::aid-ajmg21>3.0.co;2-s. Am J Med Genet. 1997. PMID: 9066894

4

Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome.

Miozzo M, Castorina P, Riva P, Dalprà L, Fuhrman Conti AM, Volpi L, Hoe TS, Khoo A, Wiegant J, Rosenberg C, Larizza L. Miozzo M, et al. Among authors: castorina p. Int J Cancer. 1998 Aug 12;77(4):504-10. doi: 10.1002/(sici)1097-0215(19980812)77:4<504::aid-ijc5>3.0.co;2-y. Int J Cancer. 1998. PMID: 9679749

5

Trisomy 4 leading to duplication of a mutated KIT allele in acute myeloid leukemia with mast cell involvement.

Beghini A, Ripamonti CB, Castorina P, Pezzetti L, Doneda L, Cairoli R, Morra E, Larizza L. Beghini A, et al. Among authors: castorina p. Cancer Genet Cytogenet. 2000 May;119(1):26-31. doi: 10.1016/s0165-4608(99)00221-6. Cancer Genet Cytogenet. 2000. PMID: 10812167

6

Multicolor FISH in chronic lymphocytic leukemia. An interphase study of patients with early-onset disease.

Doneda L, Castorina P, Tedeschi A, Intropido L, Morra E, Montillo M, Larizza L. Doneda L, et al. Among authors: castorina p. Cancer Genet Cytogenet. 2001 Feb;125(1):63-9. doi: 10.1016/s0165-4608(00)00362-9. Cancer Genet Cytogenet. 2001. PMID: 11297770

7

RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.

Beghini A, Castorina P, Roversi G, Modiano P, Larizza L. Beghini A, et al. Among authors: castorina p. Am J Med Genet A. 2003 Jul 30;120A(3):395-9. doi: 10.1002/ajmg.a.20154. Am J Med Genet A. 2003. PMID: 12838562

8

Reproductive follow-up of carriers of familial reciprocal balanced translocations involving chromosome 9 and comparison with predicted outcome.

Castorina P, Rodeschini O, Nocera G, Larizza L. Castorina P, et al. Genet Couns. 2000;11(3):229-39. Genet Couns. 2000. PMID: 11043431

9

Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.

Sparago A, Russo S, Cerrato F, Ferraiuolo S, Castorina P, Selicorni A, Schwienbacher C, Negrini M, Ferrero GB, Silengo MC, Anichini C, Larizza L, Riccio A. Sparago A, et al. Among authors: castorina p. Hum Mol Genet. 2007 Feb 1;16(3):254-64. doi: 10.1093/hmg/ddl448. Epub 2006 Dec 11. Hum Mol Genet. 2007. PMID: 17158821

10

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing.

Soldà G, Robusto M, Primignani P, Castorina P, Benzoni E, Cesarani A, Ambrosetti U, Asselta R, Duga S. Soldà G, et al. Among authors: castorina p. Hum Mol Genet. 2012 Feb 1;21(3):577-85. doi: 10.1093/hmg/ddr493. Epub 2011 Oct 28. Hum Mol Genet. 2012. PMID: 22038834 Free PMC article.

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