Fiorio P - Search Results

1

Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1.

Capra V, Severino M, Rossi A, Nozza P, Doneda C, Perri K, Pavanello M, Fiorio P, Gimelli G, Tassano E, Di Battista E. Capra V, et al. Among authors: fiorio p. Am J Med Genet A. 2014 Feb;164A(2):495-9. doi: 10.1002/ajmg.a.36283. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311370

2

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.

Tassano E, Ronchetto P, Calcagno A, Fiorio P, Gimelli G, Capra V, Scala M. Tassano E, et al. Among authors: fiorio p. J Genet. 2019 Jun;98(2):56. J Genet. 2019. PMID: 31204719 Free article.

3

Clinical and molecular delineation of a 16p13.2p13.13 microduplication.

Tassano E, Alpigiani MG, Calcagno A, Salvati P, De Miglio L, Fiorio P, Cuoco C, Gimelli G. Tassano E, et al. Among authors: fiorio p. Eur J Med Genet. 2015 Mar;58(3):194-8. doi: 10.1016/j.ejmg.2014.12.016. Epub 2015 Jan 14. Eur J Med Genet. 2015. PMID: 25596524

4

Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.

Tassano E, Giacomini T, Severino M, Gamucci A, Fiorio P, Gimelli G, Ronchetto P. Tassano E, et al. Among authors: fiorio p. Cytogenet Genome Res. 2017;152(1):22-28. doi: 10.1159/000477292. Epub 2017 Jun 13. Cytogenet Genome Res. 2017. PMID: 28605748

5

1p31.1 microdeletion including only NEGR1 gene in two patients.

Tassano E, Uccella S, Giacomini T, Fiorio P, Tavella E, Malacarne M, Gimelli G, Coviello D, Ronchetto P. Tassano E, et al. Among authors: fiorio p. Eur J Med Genet. 2020 Jun;63(6):103919. doi: 10.1016/j.ejmg.2020.103919. Epub 2020 Mar 21. Eur J Med Genet. 2020. PMID: 32209393

6

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders.

Gimelli S, Capra V, Di Rocco M, Leoni M, Mirabelli-Badenier M, Schiaffino MC, Fiorio P, Cuoco C, Gimelli G, Tassano E. Gimelli S, et al. Among authors: fiorio p. Mol Cytogenet. 2014 Aug 13;7:54. doi: 10.1186/s13039-014-0054-y. eCollection 2014. Mol Cytogenet. 2014. PMID: 25478008 Free PMC article.

7

Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.

Fiorio P, Rosaia De Santis L, Cuoco C, Gimelli G, Gastaldi R, Bonatti F, Ravazzolo R, Bocciardi R. Fiorio P, et al. Gynecol Endocrinol. 2016;32(1):14-7. doi: 10.3109/09513590.2015.1106472. Epub 2015 Nov 16. Gynecol Endocrinol. 2016. PMID: 26572316 Free article.

8

Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations.

Tassano E, Uccella S, Giacomini T, Severino M, Fiorio P, Gimelli G, Ronchetto P. Tassano E, et al. Among authors: fiorio p. Cytogenet Genome Res. 2018;156(3):144-149. doi: 10.1159/000494152. Epub 2018 Dec 4. Cytogenet Genome Res. 2018. PMID: 30508811

9

Prenatal Diagnosis of an Uncommon 48,XX,+18+21 Karyotype in a Fetus With Malformations Typical of Both Trisomies.

Fiorio P, Donarini G, Fulcheri E, Meccariello G, Tassano E, Amico G, Paladini D. Fiorio P, et al. J Ultrasound Med. 2020 Nov;39(11):2277-2279. doi: 10.1002/jum.15336. Epub 2020 May 15. J Ultrasound Med. 2020. PMID: 32412111 No abstract available.

10

The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma.

Gimelli S, Beri S, Drabkin HA, Gambini C, Gregorio A, Fiorio P, Zuffardi O, Gemmill RM, Giorda R, Gimelli G. Gimelli S, et al. Among authors: fiorio p. Mol Cancer. 2009 Jul 30;8:52. doi: 10.1186/1476-4598-8-52. Mol Cancer. 2009. PMID: 19642973 Free PMC article.

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