Francipane L - Search Results

1

Detection of mutations in argentine retinoblastoma patients by segregation of polymorphisms, exon analysis and cytogenetic test.

Dalamon V, Surace E, Borelina D, Ziembar M, Esperante S, Francipane L, Davila M, Parma D, Szijan I. Dalamon V, et al. Among authors: francipane l. Ophthalmic Res. 2001 Nov-Dec;33(6):336-9. doi: 10.1159/000055690. Ophthalmic Res. 2001. PMID: 11721186

2

Supernumerary marker 15 chromosome in a patient with Prader-Willi syndrome.

Borelina D, Esperante S, Gutnisky V, Ferreiro V, Ferrer M, Giliberto F, Frechtel G, Francipane L, Szijan I. Borelina D, et al. Among authors: francipane l. Clin Genet. 2004 Mar;65(3):242-3. doi: 10.1111/j.0009-9163.2004.00203.x. Clin Genet. 2004. PMID: 14756675 No abstract available.

3

Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes.

Borelina D, Engel N, Esperante S, Ferreiro V, Ferrer M, Torrado M, Goldschmidt E, Francipane L, Szijan I. Borelina D, et al. Among authors: francipane l. J Biochem Mol Biol. 2004 Sep 30;37(5):522-6. doi: 10.5483/bmbrep.2004.37.5.522. J Biochem Mol Biol. 2004. PMID: 15479613

4

The role of polymorphic short tandem (CA)n repeat loci segregation analysis in the detection of Duchenne muscular dystrophy carriers and prenatal diagnosis.

Ferreiro V, Giliberto F, Francipane L, Szijan I. Ferreiro V, et al. Among authors: francipane l. Mol Diagn. 2005;9(2):67-80. doi: 10.1007/BF03260074. Mol Diagn. 2005. PMID: 16137182

5

Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion.

Ferreiro V, Giliberto F, Muñiz GM, Francipane L, Marzese DM, Mampel A, Roqué M, Frechtel GD, Szijan I. Ferreiro V, et al. Among authors: francipane l. Muscle Nerve. 2009 Feb;39(2):239-43. doi: 10.1002/mus.21193. Muscle Nerve. 2009. PMID: 19012301

6

GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.

Dalamón V, Lotersztein V, Béhèran A, Lipovsek M, Diamante F, Pallares N, Francipane L, Frechtel G, Paoli B, Mansilla E, Diamante V, Elgoyhen AB. Dalamón V, et al. Among authors: francipane l. Audiol Neurootol. 2010;15(3):194-202. doi: 10.1159/000254487. Epub 2009 Nov 4. Audiol Neurootol. 2010. PMID: 19887791

7

Prenatal diagnosis of Duchenne/Becker muscular dystrophy by short tandem repeat segregation analysis in Argentine families.

Giliberto F, Ferreiro V, Massot F, Ferrer M, Francipane L, Szijan I. Giliberto F, et al. Among authors: francipane l. Muscle Nerve. 2011 Apr;43(4):510-7. doi: 10.1002/mus.21904. Epub 2011 Feb 8. Muscle Nerve. 2011. PMID: 21305566

8

Analysis of complex structural variants in the DMD gene in one family.

Luce L, Abelleyro MM, Carcione M, Mazzanti C, Rossetti L, Radic P, Szijan I, Menazzi S, Francipane L, Nevado J, Lapunzina P, De Brasi C, Giliberto F. Luce L, et al. Among authors: francipane l. Neuromuscul Disord. 2021 Mar;31(3):253-263. doi: 10.1016/j.nmd.2020.11.015. Epub 2020 Dec 6. Neuromuscul Disord. 2021. PMID: 33451931

9

Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.

Buonfiglio PI, Bruque CD, Lotersztein V, Luce L, Giliberto F, Menazzi S, Francipane L, Paoli B, Goldschmidt E, Elgoyhen AB, Dalamón V. Buonfiglio PI, et al. Among authors: francipane l. Sci Rep. 2022 Jan 7;12(1):301. doi: 10.1038/s41598-021-04081-2. Sci Rep. 2022. PMID: 34997062 Free PMC article.

10

Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON).

Buonfiglio PI, Menazzi S, Francipane L, Lotersztein V, Ferreiro V, Elgoyhen AB, Dalamón V. Buonfiglio PI, et al. Among authors: francipane l. PLoS One. 2023 Feb 24;18(2):e0275703. doi: 10.1371/journal.pone.0275703. eCollection 2023. PLoS One. 2023. PMID: 36827238 Free PMC article.

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