Paskulin G - Search Results

1

Regulatory variants of FOXG1 in the context of its topological domain organisation.

Mehrjouy MM, Fonseca ACS, Ehmke N, Paskulin G, Novelli A, Benedicenti F, Mencarelli MA, Renieri A, Busa T, Missirian C, Hansen C, Abe KT, Speck-Martins CE, Vianna-Morgante AM, Bak M, Tommerup N. Mehrjouy MM, et al. Among authors: paskulin g. Eur J Hum Genet. 2018 Feb;26(2):186-196. doi: 10.1038/s41431-017-0011-4. Epub 2017 Dec 30. Eur J Hum Genet. 2018. PMID: 29289958 Free PMC article.

2

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

3

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.

4

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. Arq Neuropsiquiatr. 2009 Sep;67(3A):689-91. doi: 10.1590/s0004-282x2009000400021. Arq Neuropsiquiatr. 2009. PMID: 19722050 Free article. No abstract available.

5

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

6

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

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

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. Sao Paulo Med J. 2010;128(2):99-101. doi: 10.1590/s1516-31802010000200011. Sao Paulo Med J. 2010. PMID: 20676578 Free PMC article.

9

Trisomy 12p syndrome secondary to a balanced familial translocation.

Zen PR, Rosa RF, Rosa RC, Graziadio C, Paskulin GA. Zen PR, et al. 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.

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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