Lenzini E - Search Results

1

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.

Doimo M, Desbats MA, Baldoin MC, Lenzini E, Basso G, Murphy E, Graziano C, Seri M, Burlina A, Sartori G, Trevisson E, Salviati L. Doimo M, et al. Among authors: lenzini e. Hum Mutat. 2013 Jan;34(1):229-36. doi: 10.1002/humu.22233. Epub 2012 Oct 17. Hum Mutat. 2013. PMID: 23076989

2

Ichthyosis and Kallmann syndrome: not always a contiguous gene syndrome.

Trevisson E, Ludwig K, Casarin A, Di Meglio A, Greggio NA, Manara R, Lenzini E, Clementi M, Salviati L. Trevisson E, et al. Among authors: lenzini e. J Dermatol Sci. 2015 May;78(2):158-60. doi: 10.1016/j.jdermsci.2015.02.005. Epub 2015 Feb 16. J Dermatol Sci. 2015. PMID: 25726327 No abstract available.

3

De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature.

Bartolini L, Sartori S, Lenzini E, Rigon C, Cainelli E, Agrati C, Toldo I, Donà M, Trevisson E. Bartolini L, et al. Among authors: lenzini e. Gene. 2013 Jul 25;524(2):368-72. doi: 10.1016/j.gene.2013.04.033. Epub 2013 Apr 21. Gene. 2013. PMID: 23612255 Review.

4

Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.

Zanetti A, Onenli-Mungan N, Elcioglu N, Ozbek MN, Kör D, Lenzini E, Scarpa M, Tomanin R. Zanetti A, et al. Among authors: lenzini e. JIMD Rep. 2014;14:1-9. doi: 10.1007/8904_2013_276. Epub 2013 Nov 16. JIMD Rep. 2014. PMID: 24243352 Free PMC article.

5

1q44-qter trisomy: clinical report and review of the literature.

Lenzini E, Ballarati L, Drigo P, Carrozzi M, Gambel-Benussi D, Giardino D, Petix V, Rizzotto MR, Pecile V. Lenzini E, et al. Genet Test Mol Biomarkers. 2009 Feb;13(1):79-86. doi: 10.1089/gtmb.2008.0075. Genet Test Mol Biomarkers. 2009. PMID: 19309278 Review.

6

Familial subtelomeric rearrangement of chromosomes 19 and 20: a new contribution to partial distal 19q trisomy.

Lenzini E, Drigo P, Redaelli S, Mammi I, Rosa-Rizzotto M, Dalprà L. Lenzini E, et al. Genet Test Mol Biomarkers. 2010 Oct;14(5):695-701. doi: 10.1089/gtmb.2010.0079. Epub 2010 Sep 20. Genet Test Mol Biomarkers. 2010. PMID: 20854099

7

Ring 17 syndrome: first clinical report without intellectual disability.

de Palma L, De Carlo D, Lenzini E, Boniver C, Tarantino V, Bacci B, Vecchi M. de Palma L, et al. Among authors: lenzini e. Epileptic Disord. 2015 Mar;17(1):84-7; quiz 88. doi: 10.1684/epd.2015.0726. Epileptic Disord. 2015. PMID: 25635406

8

[Analysis of disaccharidase activity of the amniotic fluid for the early prenatal diagnosis of abnormalities of patency and motility of the fetal intestine].

Clementi M, Baccichetti C, Lucci G, Lenzini E, Tenconi R. Clementi M, et al. Among authors: lenzini e. Minerva Ginecol. 1985 Nov;37(11):635-9. Minerva Ginecol. 1985. PMID: 4080231 Italian. No abstract available.

9

Concomitant amplification and expression of PAX7-FKHR and MYCN in a human rhabdomyosarcoma cell line carrying a cryptic t(1;13)(p36;q14).

Frascella E, Lenzini E, Schafer BW, Brecevic L, Dorigo E, Toffolatti L, Nanni P, De Giovanni C, Rosolen A. Frascella E, et al. Among authors: lenzini e. Cancer Genet Cytogenet. 2000 Sep;121(2):139-45. doi: 10.1016/s0165-4608(00)00258-2. Cancer Genet Cytogenet. 2000. PMID: 11063797

10

Prenatal diagnosis of Miller-Dieker syndrome by ultrasound and molecular cytogenetic analysis.

Lenzini E, D'Ottavio G, Città A, Benussi DG, Petix V, Pecile V. Lenzini E, et al. Clin Genet. 2007 Nov;72(5):487-9. doi: 10.1111/j.1399-0004.2007.00830.x. Epub 2007 Sep 10. Clin Genet. 2007. PMID: 17850357 No abstract available.

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