Lerone M - Search Results

1

Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.

Rosti G, Boeri S, Divizia MT, Pisciotta L, Mancardi MM, Lerone M, Cerminara M, Servetti M, Spirito G, Vozzi D, Fontana M, Gustincich S, Nobili L, Zara F, Puliti A. Rosti G, et al. Among authors: lerone m. Mol Syndromol. 2023 Oct;14(5):433-438. doi: 10.1159/000529408. Epub 2023 May 9. Mol Syndromol. 2023. PMID: 37915395 Free PMC article.

2

Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.

Cerminara M, Spirito G, Pisciotta L, Squillario M, Servetti M, Divizia MT, Lerone M, Berloco B, Boeri S, Nobili L, Vozzi D, Sanges R, Gustincich S, Puliti A. Cerminara M, et al. Among authors: lerone m. Front Genet. 2021 Feb 18;12:625564. doi: 10.3389/fgene.2021.625564. eCollection 2021. Front Genet. 2021. PMID: 33679889 Free PMC article.

3

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: lerone m. 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

4

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: lerone m. Front Genet. 2021 Sep 21;12:732002. doi: 10.3389/fgene.2021.732002. eCollection 2021. Front Genet. 2021. PMID: 34621295 Free PMC article.

5

Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case.

Tassano E, Gimelli S, Divizia MT, Lerone M, Vaccari C, Puliti A, Gimelli G. Tassano E, et al. Among authors: lerone m. Mol Cytogenet. 2015 Nov 5;8:87. doi: 10.1186/s13039-015-0188-6. eCollection 2015. Mol Cytogenet. 2015. PMID: 26550033 Free PMC article.

6

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: lerone m. 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.

7

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.

Vaccari CM, Romanini MV, Musante I, Tassano E, Gimelli S, Divizia MT, Torre M, Morovic CG, Lerone M, Ravazzolo R, Puliti A. Vaccari CM, et al. Among authors: lerone m. BMC Med Genet. 2014 May 30;15:63. doi: 10.1186/1471-2350-15-63. BMC Med Genet. 2014. PMID: 24885342 Free PMC article.

8

Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.

Tassano E, Mirabelli-Badenier M, Veneselli E, Puliti A, Lerone M, Vaccari CM, Morana G, Porta S, Gimelli G, Cuoco C. Tassano E, et al. Among authors: lerone m. Mol Cytogenet. 2015 Apr 28;8:31. doi: 10.1186/s13039-015-0134-7. eCollection 2015. Mol Cytogenet. 2015. PMID: 26052347 Free PMC article.

9

Renal involvement and Strømme syndrome.

Caridi G, Lugani F, Lerone M, Divizia MT, Ghiggeri GM, Verrina E. Caridi G, et al. Among authors: lerone m. Clin Kidney J. 2020 Jan 25;14(1):439-441. doi: 10.1093/ckj/sfz189. eCollection 2021 Jan. Clin Kidney J. 2020. PMID: 33564452 Free PMC article.

10

Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption.

Tassano E, Ronchetto P, Severino M, Divizia MT, Lerone M, Uccella S, Nobili L, Tavella E, Morerio C, Coviello D, Malacarne M. Tassano E, et al. Among authors: lerone m. Bone. 2021 Sep;150:116022. doi: 10.1016/j.bone.2021.116022. Epub 2021 May 26. Bone. 2021. PMID: 34048959

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