Paskulin G - Search Results

1

Keratosis pilaris and ulerythema ophryogenes in a woman with monosomy of the short arm of chromosome 18.

Carvalho CA, Carvalho AV, Kiss A, Paskulin G, Götze FM. Carvalho CA, et al. Among authors: paskulin g. An Bras Dermatol. 2011 Jul-Aug;86(4 Suppl 1):S42-5. doi: 10.1590/s0365-05962011000700010. An Bras Dermatol. 2011. PMID: 22068768 English, Portuguese.

2

Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome.

Paskulin GA, Riegel M, Cotter PD, Kiss A, Rosa RF, Zen PR, Mombach R, Graziadio C. Paskulin GA, et al. Am J Med Genet A. 2009 Jun;149A(6):1302-7. doi: 10.1002/ajmg.a.32888. Am J Med Genet A. 2009. PMID: 19449429

3

[Chromosomal abnormalities in couples with history of recurrent abortion].

Kiss A, Rosa RF, Dibi RP, Zen PR, Pfeil JN, Graziadio C, Paskulin GA. Kiss A, et al. Rev Bras Ginecol Obstet. 2009 Feb;31(2):68-74. doi: 10.1590/s0100-72032009000200004. Rev Bras Ginecol Obstet. 2009. PMID: 19407911 Portuguese.

4

A Brazilian galactosialidosis patient given renal transplantation: a case report.

Kiss A, Zen PR, Bittencourt V, Paskulin GA, Giugliani R, d'Azzo A, Schwartz IV. Kiss A, et al. Among authors: paskulin ga. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S205-8. doi: 10.1007/s10545-008-0730-3. Epub 2008 Oct 21. J Inherit Metab Dis. 2008. PMID: 18937050

5

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity.

Artigalás O, Paskulin G, Riegel M, Burin M, Saraiva-Pereira ML, Maluf S, Kiss A, Schwartz IV. Artigalás O, et al. Among authors: paskulin g. Genet Mol Biol. 2012 Apr;35(2):424-7. doi: 10.1590/S1415-47572012000300007. Epub 2012 Jun 23. Genet Mol Biol. 2012. PMID: 22888290 Free PMC article.

6

Poland syndrome associated with an aberrant subclavian artery and vascular abnormalities of the retina in a child exposed to misoprostol during pregnancy.

Rosa RF, Travi GM, Valiatti F, Zen PR, Pinto LL, Kiss A, Graziadio C, Paskulin GA. Rosa RF, et al. Birth Defects Res A Clin Mol Teratol. 2007 Jun;79(6):507-11. doi: 10.1002/bdra.20366. Birth Defects Res A Clin Mol Teratol. 2007. PMID: 17393483

7

[Amenorrhea and X chromosome abnormalities].

Rosa RF, Dibi RP, Picetti Jdos S, Rosa RC, Zen PR, Graziadio C, Paskulin GA. Rosa RF, et al. Rev Bras Ginecol Obstet. 2008 Oct;30(10):511-7. doi: 10.1590/s0100-72032008001000006. Rev Bras Ginecol Obstet. 2008. PMID: 19082388 Portuguese.

8

Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7.

Paskulin GA, Riegel M, Machado Rosa RF, Graziadio C, Gazzola Zen PR. Paskulin GA, et al. Eur J Med Genet. 2011 Mar-Apr;54(2):181-5. doi: 10.1016/j.ejmg.2010.10.012. Epub 2010 Nov 5. Eur J Med Genet. 2011. PMID: 21056704

9

Report of a child with a complete de novo 17p duplication localized to the terminal region of the long arm of chromosome 17.

Paskulin GA, Zen PR, Rosa RF, Manique RC, Cotter PD. Paskulin GA, et al. Am J Med Genet A. 2007 Jun 15;143A(12):1366-70. doi: 10.1002/ajmg.a.31785. Am J Med Genet A. 2007. PMID: 17506105

10

Clinical characteristics of a sample of patients with cat eye syndrome.

Rosa RF, Mombach R, Zen PR, Graziadio C, Paskulin GA. Rosa RF, et al. Rev Assoc Med Bras (1992). 2010 Jul-Aug;56(4):462-5. doi: 10.1590/s0104-42302010000400021. Rev Assoc Med Bras (1992). 2010. PMID: 20835645 Free article. English, Portuguese.

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