Ronchetto P - Search Results

1

Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion.

Drovandi S, Servetti M, Angeletti A, Puliti A, Ronchetto P, Tassano E, Ghiggeri GM, Caridi G. Drovandi S, et al. Among authors: ronchetto p. J Nephrol. 2021 Dec;34(6):2111-2115. doi: 10.1007/s40620-020-00959-y. Epub 2021 Jan 9. J Nephrol. 2021. PMID: 33420968 No abstract available.

2

Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.

Rosti G, Tassano E, Bossi S, Divizia MT, Ronchetto P, Servetti M, Lerone M, Pisciotta L, Mancardi MM, Veneselli E, Puliti A. Rosti G, et al. Among authors: ronchetto p. Eur J Med Genet. 2019 Sep;62(9):103555. doi: 10.1016/j.ejmg.2018.10.007. Epub 2018 Oct 22. Eur J Med Genet. 2019. PMID: 30359776

3

Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.

Servetti M, Pisciotta L, Tassano E, Cerminara M, Nobili L, Boeri S, Rosti G, Lerone M, Divizia MT, Ronchetto P, Puliti A. Servetti M, et al. Among authors: ronchetto p. Front Genet. 2021 Sep 21;12:732002. doi: 10.3389/fgene.2021.732002. eCollection 2021. Front Genet. 2021. PMID: 34621295 Free PMC article.

4

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.

5

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

6

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

7

'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: ronchetto p. J Genet. 2019 Jun;98(2):56. J Genet. 2019. PMID: 31204719 Free article.

8

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

9

Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.

Tassano E, Uccella S, Severino M, Giacomini T, Nardi F, Gimelli G, Tavella E, Ronchetto P, Malacarne M, Coviello D. Tassano E, et al. Among authors: ronchetto p. J Genet. 2021;100:9. J Genet. 2021. PMID: 33707360 Free article. Review.

10

An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.

Ruscitti F, Cerminara M, Iascone M, Pezzoli L, Rosti G, Romano F, Ronchetto P, Martucciello G, Buratti S, Buffelli F, Bocciardi R, Puliti A, Divizia MT. Ruscitti F, et al. Among authors: ronchetto p. Birth Defects Res. 2022 Jul 15;114(12):674-681. doi: 10.1002/bdr2.2065. Epub 2022 Jun 25. Birth Defects Res. 2022. PMID: 35751431

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