Ronchetto P - Search Results

1

Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment.

Tassano E, Gamucci A, Celle ME, Ronchetto P, Cuoco C, Gimelli G. Tassano E, et al. Among authors: ronchetto p. Cytogenet Genome Res. 2015;146(1):39-43. doi: 10.1159/000431391. Epub 2015 Jun 19. Cytogenet Genome Res. 2015. PMID: 26112959

2

RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability.

Baglietto MG, Caridi G, Gimelli G, Mancardi M, Prato G, Ronchetto P, Cuoco C, Tassano E. Baglietto MG, et al. Among authors: ronchetto p. Eur J Med Genet. 2014 Jan;57(1):44-6. doi: 10.1016/j.ejmg.2013.12.001. Epub 2013 Dec 17. Eur J Med Genet. 2014. PMID: 24355400

3

Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion.

Tassano E, Accogli A, Panigada S, Ronchetto P, Cuoco C, Gimelli G. Tassano E, et al. Among authors: ronchetto p. Mol Cytogenet. 2014 Jul 21;7:49. doi: 10.1186/1755-8166-7-49. eCollection 2014. Mol Cytogenet. 2014. PMID: 25076984 Free PMC article.

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: ronchetto p. Cytogenet Genome Res. 2017;152(1):22-28. doi: 10.1159/000477292. Epub 2017 Jun 13. Cytogenet Genome Res. 2017. PMID: 28605748

5

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: ronchetto p. Cytogenet Genome Res. 2018;156(3):144-149. doi: 10.1159/000494152. Epub 2018 Dec 4. Cytogenet Genome Res. 2018. PMID: 30508811

6

Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.

Tassano E, Uccella S, Ronchetto P, Martinheira Da Silva JS, Viaggi S, Mancardi M, Ramenghi L, Murri A, Biondi M, Gimelli G, Morerio C, Malacarne M, Coviello D. Tassano E, et al. Among authors: ronchetto p. Cytogenet Genome Res. 2022;162(3):132-139. doi: 10.1159/000525181. Epub 2022 Jul 27. Cytogenet Genome Res. 2022. PMID: 35896065

7

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.

Cuoco C, Ronchetto P, Gimelli S, Béna F, Divizia MT, Lerone M, Mirabelli-Badenier M, Mascaretti M, Gimelli G. Cuoco C, et al. Among authors: ronchetto p. Orphanet J Rare Dis. 2011 Apr 1;6:12. doi: 10.1186/1750-1172-6-12. Orphanet J Rare Dis. 2011. PMID: 21457564 Free PMC article.

8

Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations.

Severino M, Accogli A, Gimelli G, Rossi A, Kotzeva S, Di Rocco M, Ronchetto P, Cuoco C, Tassano E. Severino M, et al. Among authors: ronchetto p. Mol Cytogenet. 2015 Mar 5;8:17. doi: 10.1186/s13039-015-0121-z. eCollection 2015. Mol Cytogenet. 2015. PMID: 25774222 Free PMC article.

9

3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.

Tassano E, Uccella S, Giacomini T, Severino M, Siri L, Gherzi M, Celle ME, Porta S, Gimelli G, Ronchetto P. Tassano E, et al. Among authors: ronchetto p. Eur J Med Genet. 2018 Aug;61(8):428-433. doi: 10.1016/j.ejmg.2018.02.011. Epub 2018 Mar 1. Eur J Med Genet. 2018. PMID: 29501613

10

Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity.

Tassano E, Uccella S, Giacomini T, Striano P, Severino M, Porta S, Gimelli G, Ronchetto P. Tassano E, et al. Among authors: ronchetto p. Cytogenet Genome Res. 2018;156(1):14-21. doi: 10.1159/000491871. Epub 2018 Aug 8. Cytogenet Genome Res. 2018. PMID: 30086552 Review.

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