Lerone M - Search Results

1

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.

2

Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection.

Puliti A, Covone AE, Bicocchi MP, Bolino A, Lerone M, Martucciello G, Jasonni V, Romeo G. Puliti A, et al. Among authors: lerone m. Cytogenet Cell Genet. 1993;63(2):102-6. doi: 10.1159/000133510. Cytogenet Cell Genet. 1993. PMID: 8467706

3

Unilateral radio-ulnar synostosis associated with hypotonia, developmental delay, and facial dysmorphism.

Divizia MT, Baban A, Pessagno A, Boero S, Ravazzolo R, Silengo MC, Lerone M. Divizia MT, et al. Among authors: lerone m. Am J Med Genet A. 2005 Aug 15;137(1):106-8. doi: 10.1002/ajmg.a.30879. Am J Med Genet A. 2005. PMID: 16015584 Review. No abstract available.

4

Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.

Bocciardi R, Giorda R, Buttgereit J, Gimelli S, Divizia MT, Beri S, Garofalo S, Tavella S, Lerone M, Zuffardi O, Bader M, Ravazzolo R, Gimelli G. Bocciardi R, et al. Among authors: lerone m. Hum Mutat. 2007 Jul;28(7):724-31. doi: 10.1002/humu.20511. Hum Mutat. 2007. PMID: 17373680

5

Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome.

Baban A, Moresco L, Divizia MT, Rossi A, Ravazzolo R, Lerone M, De Toni T. Baban A, et al. Among authors: lerone m. Am J Med Genet A. 2008 Feb 1;146A(3):384-8. doi: 10.1002/ajmg.a.32111. Am J Med Genet A. 2008. PMID: 18203175 No abstract available.

6

Further case of metaphyseal acroscyphodysplasia with cone-shaped epiphyses (Bellini disease or metaphyseal dyschondroplasia).

De Toni T, Baban A, Colombo E, Arnello A, Divizia MT, Lerone M. De Toni T, et al. Among authors: lerone m. Clin Dysmorphol. 2008 Oct;17(4):275-8. doi: 10.1097/MCD.0b013e3282fc77ec. Clin Dysmorphol. 2008. PMID: 18978659 Review. No abstract available.

7

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.

Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R. Marini M, et al. Among authors: lerone m. Genet Med. 2010 Jul;12(7):431-9. doi: 10.1097/GIM.0b013e3181e21afa. Genet Med. 2010. PMID: 20531206 Free article.

8

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.

9

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia.

van Kogelenberg M, Lerone M, De Toni T, Divizia MT, de Brouwer AP, Veltman JA, van Bokhoven H, Robertson SP. van Kogelenberg M, et al. Among authors: lerone m. Am J Med Genet A. 2011 Dec;155A(12):3144-7. doi: 10.1002/ajmg.a.34311. Epub 2011 Nov 3. Am J Med Genet A. 2011. PMID: 22052819

10

Familial Poland anomaly revisited.

Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, Sénès FM, Garavelli L, Rivieri F, Lerone M, Valle M, Ravazzolo R, Calevo MG. Baban A, et al. Among authors: lerone m. Am J Med Genet A. 2012 Jan;158A(1):140-9. doi: 10.1002/ajmg.a.34370. Epub 2011 Nov 22. Am J Med Genet A. 2012. PMID: 22110015 Review.

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