Malacarne M - Search Results

1

14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.

Piccione M, Serra G, Consiglio V, Di Fiore A, Cavani S, Grasso M, Malacarne M, Pierluigi M, Viaggi C, Corsello G. Piccione M, et al. Among authors: malacarne m. Am J Med Genet A. 2012 Jun;158A(6):1427-33. doi: 10.1002/ajmg.a.35334. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581785

2

Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome.

Danesino C, Gualtierotti M, Origi M, Cistaro A, Malacarne M, Massidda M, Bencardino K, Coviello D, Albani G, Schiera IG, Liava A, Guala A. Danesino C, et al. Among authors: malacarne m. Diseases. 2023 Dec 29;12(1):9. doi: 10.3390/diseases12010009. Diseases. 2023. PMID: 38248360 Free PMC article.

3

Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion.

Conteduca G, Baldo C, Arado A, Traverso M, Testa B, Malacarne M, Coviello D, Zara F, Baldassari S. Conteduca G, et al. Among authors: malacarne m. Stem Cell Res. 2023 Feb;66:103007. doi: 10.1016/j.scr.2022.103007. Epub 2022 Dec 21. Stem Cell Res. 2023. PMID: 36580887 Free article.

4

Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5.

Conteduca G, Baldo C, Arado A, da Silva JSM, Testa B, Baldassari S, Zara F, Filaci G, Coviello D, Malacarne M. Conteduca G, et al. Among authors: malacarne m. Stem Cell Res. 2024 Apr;76:103324. doi: 10.1016/j.scr.2024.103324. Epub 2024 Jan 29. Stem Cell Res. 2024. PMID: 38301425 Free article.

5

Perlman syndrome: clinical report and nine-year follow-up.

Piccione M, Cecconi M, Giuffrè M, Lo Curto M, Malacarne M, Piro E, Riccio A, Corsello G. Piccione M, et al. Among authors: malacarne m. Am J Med Genet A. 2005 Dec 1;139A(2):131-5. doi: 10.1002/ajmg.a.30994. Am J Med Genet A. 2005. PMID: 16278893

6

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.

Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F. Elia M, et al. Among authors: malacarne m. Epilepsia. 2006 May;47(5):830-8. doi: 10.1111/j.1528-1167.2006.00522.x. Epilepsia. 2006. PMID: 16686647 Free article.

7

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.

Striano P, Malacarne M, Cavani S, Pierluigi M, Rinaldi R, Cavaliere ML, Rinaldi MM, De Bernardo C, Coppola A, Pintaudi M, Gaggero R, Grammatico P, Striano S, Dallapiccola B, Zara F, Faravelli F. Striano P, et al. Among authors: malacarne m. Am J Med Genet A. 2006 Sep 15;140(18):1944-9. doi: 10.1002/ajmg.a.31435. Am J Med Genet A. 2006. PMID: 16906558

8

Pure segmental trisomy 1q42-qter in a boy with a severe phenotype.

Percesepe A, Lugli L, Pierluigi M, Cavani S, Malacarne M, Roversi MF, Ferrari F, Forabosco A. Percesepe A, et al. Among authors: malacarne m. Am J Med Genet A. 2007 Oct 1;143A(19):2339-42. doi: 10.1002/ajmg.a.31890. Am J Med Genet A. 2007. PMID: 17702013 No abstract available.

9

10qter deletion: a new case.

Piccione M, Antona V, Piro E, Cavani S, Malacarne M, Pierluigi M, Corsello G. Piccione M, et al. Among authors: malacarne m. Am J Med Genet A. 2008 Sep 15;146A(18):2435-8. doi: 10.1002/ajmg.a.32467. Am J Med Genet A. 2008. PMID: 18698621 No abstract available.

10

Array CGH defined interstitial deletion on chromosome 14: a new case.

Piccione M, Antona V, Scavone V, Malacarne M, Pierluigi M, Grasso M, Corsello G. Piccione M, et al. Among authors: malacarne m. Eur J Pediatr. 2010 Jul;169(7):845-51. doi: 10.1007/s00431-009-1128-4. Epub 2010 Jan 21. Eur J Pediatr. 2010. PMID: 20087602

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