Palka G - Search Results

1

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements.

Scarciolla O, Brancati F, Valente EM, Ferraris A, De Angelis MV, Valbonesi S, Garavaglia B, Uncini A, Palka G, Stuppia L, Dallapiccola B. Scarciolla O, et al. Among authors: palka g. Mov Disord. 2007 Nov 15;22(15):2274-8. doi: 10.1002/mds.21532. Mov Disord. 2007. PMID: 17914726

2

Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.

Stuppia L, Antonucci I, Palka G, Gatta V. Stuppia L, et al. Among authors: palka g. Int J Mol Sci. 2012;13(3):3245-3276. doi: 10.3390/ijms13033245. Epub 2012 Mar 8. Int J Mol Sci. 2012. PMID: 22489151 Free PMC article. Review.

3

Identification in chromosome 8q11 of a region of homology with the g1 amplicon of the Y chromosome and functional analysis of the BEYLA gene.

Stuppia L, Gatta V, Scarciolla O, Antonucci I, Morizio E, Calabrese G, Palka G. Stuppia L, et al. Among authors: palka g. Genomics. 2005 Feb;85(2):280-3. doi: 10.1016/j.ygeno.2004.10.015. Genomics. 2005. PMID: 15676287

4

Different approaches in the molecular analysis of the SHOX gene dysfunctions.

Stuppia L, Gatta V, Antonucci I, Giuliani R, Palka G. Stuppia L, et al. Among authors: palka g. J Endocrinol Invest. 2010 Jun;33(6 Suppl):30-3. J Endocrinol Invest. 2010. PMID: 21057183

5

Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts (RAEB).

Calabrese G, Fantasia D, Morizio E, Toro PM, Franchi PG, Fornaro A, Spadano A, Stuppia L, Palka G. Calabrese G, et al. Among authors: palka g. Br J Haematol. 2003 Sep;122(5):760-3. doi: 10.1046/j.1365-2141.2003.04493.x. Br J Haematol. 2003. PMID: 12930385 Free article.

6

Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.

Giuliani R, Antonucci I, Torrente I, Grammatico P, Palka G, Stuppia L. Giuliani R, et al. Among authors: palka g. Asian J Androl. 2010 Nov;12(6):819-26. doi: 10.1038/aja.2010.58. Epub 2010 Jul 26. Asian J Androl. 2010. PMID: 20657600 Free PMC article.

7

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, Agolini E, Bernardini L, Bellacchio E, Iannicelli M, Rossi A, Dib-Lachachi A, Stuppia L, Palka G, Mundlos S, Stricker S, Kornak U, Zambruno G, Dallapiccola B. Brancati F, et al. Among authors: palka g. Am J Hum Genet. 2010 Aug 13;87(2):265-73. doi: 10.1016/j.ajhg.2010.07.003. Am J Hum Genet. 2010. PMID: 20691405 Free PMC article.

8

Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome.

Scioletti AP, Brancati F, Gatta V, Antonucci I, Peissel B, Pizzuti A, Mortellaro C, Tetè S, Gherlone E, Palka G, Stuppia L. Scioletti AP, et al. Among authors: palka g. J Craniofac Surg. 2010 Sep;21(5):1654-6. doi: 10.1097/SCS.0b013e3181ef69ef. J Craniofac Surg. 2010. PMID: 20856073

9

A new case of "de novo" BRCA1 mutation in a patient with early-onset breast cancer.

Antonucci I, Provenzano M, Sorino L, Rodrigues M, Palka G, Stuppia L. Antonucci I, et al. Among authors: palka g. Clin Case Rep. 2017 Jan 28;5(3):238-240. doi: 10.1002/ccr3.718. eCollection 2017 Mar. Clin Case Rep. 2017. PMID: 28265380 Free PMC article.

10

Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene.

Calabrese G, Stuppia L, Morizio E, Guanciali Franchi P, Pompetti F, Mingarelli R, Marsilio T, Rocchi M, Gallenga PE, Palka G, Dallapiccola B. Calabrese G, et al. Among authors: palka g. Eur J Hum Genet. 1998 May-Jun;6(3):187-93. doi: 10.1038/sj.ejhg.5200173. Eur J Hum Genet. 1998. PMID: 9781021

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

182 results

Search Page

Filters