Paskulin GA - Search Results

1

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

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

Esophageal stenosis in a child presenting a de novo 7q terminal deletion.

Zen PR, Riegel M, Rosa RF, Pinto LL, Graziadio C, Schwartz IV, Paskulin GA. Zen PR, et al. Among authors: paskulin ga. Eur J Med Genet. 2010 Sep-Oct;53(5):333-6. doi: 10.1016/j.ejmg.2010.06.008. Epub 2010 Jun 22. Eur J Med Genet. 2010. PMID: 20601258

4

[Amenorrhea and X chromosome abnormalities].

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

5

Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion.

Graziadio C, Rosa RF, Zen PR, Pinto LL, Barea LM, Paskulin GA. Graziadio C, et al. Among authors: paskulin ga. Arq Neuropsiquiatr. 2009 Sep;67(3A):689-91. doi: 10.1590/s0004-282x2009000400021. Arq Neuropsiquiatr. 2009. PMID: 19722050 Free article. No abstract available.

6

Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association.

Bernardi P, Graziadio C, Rosa RF, Pfeil JN, Zen PR, Paskulin GA. Bernardi P, et al. Among authors: paskulin ga. Sao Paulo Med J. 2010;128(2):99-101. doi: 10.1590/s1516-31802010000200011. Sao Paulo Med J. 2010. PMID: 20676578 Free PMC article.

7

Trisomy 12p syndrome secondary to a balanced familial translocation.

Zen PR, Rosa RF, Rosa RC, Graziadio C, Paskulin GA. Zen PR, et al. Among authors: paskulin ga. Pediatr Int. 2010 Jun;52(3):e144-6. doi: 10.1111/j.1442-200X.2010.03061.x. Pediatr Int. 2010. PMID: 20723113 No abstract available.

8

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. Among authors: paskulin ga. 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.

9

New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival.

Zen PR, Rosa RF, Rosa RC, Graziadio C, Paskulin GA. Zen PR, et al. Among authors: paskulin ga. Sao Paulo Med J. 2011 Dec;129(6):428-32. doi: 10.1590/s1516-31802011000600010. Sao Paulo Med J. 2011. PMID: 22249800 Free PMC article.

10

Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?

de Mattos VF, Graziadio C, Machado Rosa RF, Lenhardt R, Alves RP, Trevisan P, Paskulin GA, Zen PR. de Mattos VF, et al. Among authors: paskulin ga. Pediatr Neurol. 2014 Jun;50(6):612-5. doi: 10.1016/j.pediatrneurol.2014.01.035. Epub 2014 Jan 24. Pediatr Neurol. 2014. PMID: 24690526

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