Palka G - Search Results

1

SHOX mutations detected by FISH and direct sequencing in patients with short stature.

Stuppia L, Calabrese G, Gatta V, Pintor S, Morizio E, Fantasia D, Guanciali Franchi P, Rinaldi MM, Scarano G, Concolino D, Giannotti A, Petreschi F, Anzellotti MT, Pomilio M, Chiarelli F, Tumini S, Palka G. Stuppia L, et al. Among authors: palka g. J Med Genet. 2003 Feb;40(2):E11. doi: 10.1136/jmg.40.2.e11. J Med Genet. 2003. PMID: 12566529 Free PMC article. No abstract available.

2

Deletion of the SHOX gene in patients with short stature of unknown cause.

Morizio E, Stuppia L, Gatta V, Fantasia D, Guanciali Franchi P, Rinaldi MM, Scarano G, Concolino D, Giannotti A, Verrotti A, Chiarelli F, Calabrese G, Palka G. Morizio E, et al. Among authors: palka g. Am J Med Genet A. 2003 Jun 15;119A(3):293-6. doi: 10.1002/ajmg.a.20198. Am J Med Genet A. 2003. PMID: 12784295

3

Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male.

Stuppia L, Calabrese G, Borrelli P, Gatta V, Morizio E, Mingarelli R, Di Gilio MC, Crinò A, Giannotti A, Rappold GA, Palka G. Stuppia L, et al. Among authors: palka g. J Med Genet. 1999 Sep;36(9):711-3. J Med Genet. 1999. PMID: 10507731 Free PMC article.

4

Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.

Palka G, Stuppia L, Guanciali Franchi P, Chiarelli F, Fischetto R, Borrelli P, Giannotti A, Fioretti G, Rinaldi MM, Mingarelli R, Rappold GA, Calabrese G. Palka G, et al. Clin Genet. 2000 Jun;57(6):449-53. doi: 10.1034/j.1399-0004.2000.570609.x. Clin Genet. 2000. PMID: 10905666

5

Duplication Xp22.2 and pseudoisodicentric Yq detected by FISH and PCR in a sterile male.

Palka G, Calabrese G, Mingarelli R, Guanciali Franchi P, Stuppia L, Morizio E, Peila R, Antonucci A. Palka G, et al. Clin Genet. 1995 Oct;48(4):213-6. doi: 10.1111/j.1399-0004.1995.tb04091.x. Clin Genet. 1995. PMID: 8591674

6

De novo complex chromosome rearrangement detected by fluorescence in situ hybridization on amniotic fluid cells.

Calabrese G, Morizio E, Guanciali Franchi P, Stuppia L, Palka G, Mingarelli R. Calabrese G, et al. Among authors: palka g. Am J Med Genet. 1998 Feb 3;75(4):414-5. doi: 10.1002/(sici)1096-8628(19980203)75:4<414::aid-ajmg12>3.0.co;2-r. Am J Med Genet. 1998. PMID: 9482649 No abstract available.

7

FISH analysis in detecting 9p duplication (p22p24).

Guanciali Franchi P, Calabrese G, Morizio E, Modestini E, Stuppia L, Mingarelli R, Palka G. Guanciali Franchi P, et al. Among authors: palka g. Am J Med Genet. 2000 Jan 3;90(1):35-7. Am J Med Genet. 2000. PMID: 10602115

8

A new case of Yq microdeletion transmitted from a normal father to two infertile sons.

Gatta V, Stuppia L, Calabrese G, Morizio E, Guanciali-Franchi P, Palka G. Gatta V, et al. Among authors: palka g. J Med Genet. 2002 Jun;39(6):E27. doi: 10.1136/jmg.39.6.e27. J Med Genet. 2002. PMID: 12070259 Free PMC article. No abstract available.

9

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

10

A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11.

Stuppia L, Gatta V, Calabrese G, Guanciali Franchi P, Morizio E, Bombieri C, Mingarelli R, Sforza V, Frajese G, Tenaglia R, Palka G. Stuppia L, et al. Among authors: palka g. Hum Genet. 1998 May;102(5):566-70. doi: 10.1007/s004390050741. Hum Genet. 1998. PMID: 9654206

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

182 results

Search Page