Palka G - Search Results

1

C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy.

Stuppia L, Gatta V, Gaspari AR, Antonucci I, Morizio E, Calabrese G, Palka G. Stuppia L, et al. Among authors: palka g. Eur J Hum Genet. 2002 Jun;10(6):388-90. doi: 10.1038/sj.ejhg.5200819. Eur J Hum Genet. 2002. PMID: 12080391

2

Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb.

Calabrese G, Telvi L, Capodiferro F, Morizio E, Pizzuti A, Stuppia L, Bordoni R, Ion A, Fantasia D, Mingarelli R, Palka G. Calabrese G, et al. Among authors: palka g. Eur J Hum Genet. 2000 May;8(5):319-24. doi: 10.1038/sj.ejhg.5200461. Eur J Hum Genet. 2000. PMID: 10854090

3

The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy.

Stuppia L, Gatta V, Scarciolla O, Colosimo A, Guanciali-Franchi P, Calabrese G, Palka G. Stuppia L, et al. Among authors: palka g. J Endocrinol Invest. 2003 Jul;26(7):620-2. doi: 10.1007/BF03347018. J Endocrinol Invest. 2003. PMID: 14594111

4

Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women.

Coppedè F, Marini G, Bargagna S, Stuppia L, Minichilli F, Fontana I, Colognato R, Astrea G, Palka G, Migliore L. Coppedè F, et al. Among authors: palka g. Am J Med Genet A. 2006 May 15;140(10):1083-91. doi: 10.1002/ajmg.a.31217. Am J Med Genet A. 2006. PMID: 16596679

5

Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring.

Coppedè F, Migheli F, Bargagna S, Siciliano G, Antonucci I, Stuppia L, Palka G, Migliore L. Coppedè F, et al. Among authors: palka g. Neurosci Lett. 2009 Jan 2;449(1):15-9. doi: 10.1016/j.neulet.2008.10.074. Epub 2008 Oct 25. Neurosci Lett. 2009. PMID: 18983896

6

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

7

Genetics of syndromic and nonsyndromic cleft lip and palate.

Stuppia L, Capogreco M, Marzo G, La Rovere D, Antonucci I, Gatta V, Palka G, Mortellaro C, Tetè S. Stuppia L, et al. Among authors: palka g. J Craniofac Surg. 2011 Sep;22(5):1722-6. doi: 10.1097/SCS.0b013e31822e5e4d. J Craniofac Surg. 2011. PMID: 21959420 Review.

8

Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: a retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer.

Antonucci I, Provenzano M, Sorino L, Balsamo M, Aceto GM, Battista P, Euhus D, Cianchetti E, Ballerini P, Natoli C, Palka G, Stuppia L. Antonucci I, et al. Among authors: palka g. J Hum Genet. 2017 Mar;62(3):379-387. doi: 10.1038/jhg.2016.138. Epub 2016 Dec 8. J Hum Genet. 2017. PMID: 27928164

9

A woman with an apparent non-mosaic 45,X delivered a 46,X,der(X) liveborn female.

Palka G, Calabrese G, Stuppia L, Guanciali Franchi P, Morizio E, Peila R, Antonucci A. Palka G, et al. Clin Genet. 1994 Feb;45(2):93-6. doi: 10.1111/j.1399-0004.1994.tb04001.x. Clin Genet. 1994. PMID: 8004805

10

Molecular studies in three patients with isodicentric Y chromosome.

Stuppia L, Calabrese G, Franchi PG, Mingarelli R, Morizio E, Sabatino G, Palka G. Stuppia L, et al. Among authors: palka g. Hum Genet. 1996 Dec;98(6):691-5. doi: 10.1007/s004390050286. Hum Genet. 1996. PMID: 8931702

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