Szijan I - Search Results

1

Identification of RB1 germline mutations in Argentinian families with sporadic bilateral retinoblastoma.

Szijan I, Lohmann DR, Parma DL, Brandt B, Horsthemke B. Szijan I, et al. J Med Genet. 1995 Jun;32(6):475-9. doi: 10.1136/jmg.32.6.475. J Med Genet. 1995. PMID: 7666401 Free PMC article.

2

Spectrum of RB1 mutations in argentine patients: 20-years experience in the molecular diagnosis of retinoblastoma.

Ottaviani D, Parma D, Giliberto F, Ferrer M, Fandino A, Davila MT, Chantada G, Szijan I. Ottaviani D, et al. Among authors: szijan i. Ophthalmic Genet. 2013 Dec;34(4):189-98. doi: 10.3109/13816810.2012.755553. Epub 2013 Jan 10. Ophthalmic Genet. 2013. PMID: 23301675

3

[The relevance of molecular biology studies in the genetic counselling of Argentine retinoblastoma families].

Parma DL, Dalamon VK, Fernández C, Szijan I, Damel A. Parma DL, et al. Among authors: szijan i. Arch Soc Esp Oftalmol. 2009 Nov;84(11):557-62. doi: 10.4321/s0365-66912009001100004. Arch Soc Esp Oftalmol. 2009. PMID: 19967608 Spanish.

4

RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.

Parma D, Ferrer M, Luce L, Giliberto F, Szijan I. Parma D, et al. Among authors: szijan i. PLoS One. 2017 Dec 20;12(12):e0189736. doi: 10.1371/journal.pone.0189736. eCollection 2017. PLoS One. 2017. PMID: 29261756 Free PMC article.

5

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: szijan i. Ophthalmic Res. 2001 Nov-Dec;33(6):336-9. doi: 10.1159/000055690. Ophthalmic Res. 2001. PMID: 11721186

6

Clinical, cytogenetic, and molecular testing of Argentine patients with retinoblastoma.

Arbetman A, Abdala M, Fandiño A, Herrera J, Baranzini S, Borelina D, Parma D, Manzitti J, Barreiro C, Giliberto F, Szijan I. Arbetman A, et al. Among authors: szijan i. J AAPOS. 1998 Apr;2(2):102-7. doi: 10.1016/s1091-8531(98)90072-6. J AAPOS. 1998. PMID: 10530971

7

Expression of c-myc and c-fos protooncogenes in the anterior pituitary gland of the rat. Effect of estrogen.

Szijan I, Parma DL, Engel NI. Szijan I, et al. Horm Metab Res. 1992 Apr;24(4):154-7. doi: 10.1055/s-2007-1003283. Horm Metab Res. 1992. PMID: 1601388

8

Expression of c-myc and c-fos oncogenes in different rat brain regions during postnatal development.

Parma DL, Benasayag SJ, Szijan I. Parma DL, et al. Among authors: szijan i. Int J Dev Neurosci. 1991;9(6):613-9. doi: 10.1016/0736-5748(91)90023-f. Int J Dev Neurosci. 1991. PMID: 1803858

9

MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene.

Luce LN, Dalamon V, Ferrer M, Parma D, Szijan I, Giliberto F. Luce LN, et al. Among authors: szijan i. J Neurol Sci. 2016 Jun 15;365:22-30. doi: 10.1016/j.jns.2016.03.047. Epub 2016 Apr 2. J Neurol Sci. 2016. PMID: 27206868

10

Detection of germline mutations in argentine retinoblastoma patients: low and full penetrance retinoblastoma caused by the same germline truncating mutation.

Dalamón V, Surace E, Giliberto F, Ferreiro V, Fernandez C, Szijan I. Dalamón V, et al. Among authors: szijan i. J Biochem Mol Biol. 2004 Mar 31;37(2):246-53. doi: 10.5483/bmbrep.2004.37.2.246. J Biochem Mol Biol. 2004. PMID: 15469703

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