Tremolaterra MR - Search Results

1

A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort.

Carsana A, Frisso G, Intrieri M, Tremolaterra MR, Savarese G, Scapagnini G, Esposito G, Santoro L, Salvatore F. Carsana A, et al. Among authors: tremolaterra mr. Front Biosci (Elite Ed). 2010 Jan 1;2(2):547-58. doi: 10.2741/e113. Front Biosci (Elite Ed). 2010. PMID: 20036901 Free article.

2

A larger spectrum of intragenic short tandem repeats improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from southern Italy.

Carsana A, Frisso G, Tremolaterra MR, Ricci E, De Rasmo D, Salvatore F. Carsana A, et al. Among authors: tremolaterra mr. J Mol Diagn. 2007 Feb;9(1):64-9. doi: 10.2353/jmoldx.2007.060056. J Mol Diagn. 2007. PMID: 17251337 Free PMC article.

3

Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity.

Carsana A, Frisso G, Tremolaterra MR, Lanzillo R, Vitale DF, Santoro L, Salvatore F. Carsana A, et al. Among authors: tremolaterra mr. Ann Hum Genet. 2005 May;69(Pt 3):253-9. doi: 10.1046/j.1529-8817.2005.00160.x. Ann Hum Genet. 2005. PMID: 15845029

4

A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedure.

Esposito G, Ruggiero R, Savarese G, Savarese M, Tremolaterra MR, Salvatore F, Carsana A. Esposito G, et al. Among authors: tremolaterra mr. Clin Chim Acta. 2013 Feb 18;417:85-9. doi: 10.1016/j.cca.2012.12.021. Epub 2012 Dec 29. Clin Chim Acta. 2013. PMID: 23279920

5

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene.

Esposito G, Tremolaterra MR, Marsocci E, Tandurella IC, Fioretti T, Savarese M, Carsana A. Esposito G, et al. Among authors: tremolaterra mr. J Hum Genet. 2017 Dec;62(12):1057-1063. doi: 10.1038/jhg.2017.84. Epub 2017 Sep 7. J Hum Genet. 2017. PMID: 28878337

6

Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing.

Esposito G, Tremolaterra MR, Savarese M, Spiniello M, Patrizio MP, Lombardo B, Pastore L, Salvatore F, Carsana A. Esposito G, et al. Among authors: tremolaterra mr. Clin Chim Acta. 2018 Jan;476:167-172. doi: 10.1016/j.cca.2017.11.016. Epub 2017 Nov 21. Clin Chim Acta. 2018. PMID: 29170104 Free article.

7

Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy.

Esposito G, Ruggiero R, Savarese M, Savarese G, Tremolaterra MR, Salvatore F, Carsana A. Esposito G, et al. Among authors: tremolaterra mr. Clin Chem Lab Med. 2013 Dec;51(12):2239-45. doi: 10.1515/cclm-2013-0209. Clin Chem Lab Med. 2013. PMID: 23729582

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