Rosa RFM - Search Results

1

Frequency and clinical significance of chromosome 7 and 10 aneuploidies, amplification of the EGFR gene, deletion of PTEN and TP53 genes, and 1p/19q deficiency in a sample of adult patients diagnosed with glioblastoma from Southern Brazil.

Koshiyama DB, Trevisan P, Graziadio C, Rosa RFM, Cunegatto B, Scholl J, Provenzi VO, de Sá AP, Soares FP, Velho MC, de A P Filho N, Oliveira CA, Zen PRG. Koshiyama DB, et al. Among authors: rosa rfm. J Neurooncol. 2017 Dec;135(3):465-472. doi: 10.1007/s11060-017-2606-6. Epub 2017 Aug 30. J Neurooncol. 2017. PMID: 28856550

2

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

3

22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil.

Rosa RF, Pilla CB, Pereira VL, Flores JA, Golendziner E, Koshiyama DB, Hertz MT, Ricachinevsky CP, Roman T, Varella-Garcia M, Paskulin GA. Rosa RF, et al. Am J Med Genet A. 2008 Jul 1;146A(13):1655-61. doi: 10.1002/ajmg.a.32378. Am J Med Genet A. 2008. PMID: 18512234

4

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

5

Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia.

Bernardi P, Graziadio C, Rosa RF, Dall'Agnol L, Zen PR, Paskulin GA. Bernardi P, et al. Am J Med Genet A. 2009 Jul;149A(7):1532-8. doi: 10.1002/ajmg.a.32943. Am J Med Genet A. 2009. PMID: 19533791

6

Richieri-Costa and Pereira form of acrofacial dysostosis: first description of an adult with mesomelic shortness of the lower limbs.

Graziadio C, Rosa RF, Zen PR, Flores JA, Paskulin GA. Graziadio C, et al. Am J Med Genet A. 2009 Dec;149A(12):2886-8. doi: 10.1002/ajmg.a.33109. Am J Med Genet A. 2009. PMID: 19938093 No abstract available.

7

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. 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

8

New report of a familial case of Moebius syndrome presenting skeletal findings.

Graziadio C, Lorenzen MB, Rosa RF, Pinto LL, Zen PR, Travi GM, Valiatti F, Paskulin GA. Graziadio C, et al. Am J Med Genet A. 2010 Aug;152A(8):2134-8. doi: 10.1002/ajmg.a.33548. Am J Med Genet A. 2010. PMID: 20635408 No abstract available.

9

Short-term follow-up of a Brazilian patient with Cantú syndrome.

Graziadio C, Rosa RF, Rosa RC, Zen PR, Flores JA, Paskulin GA. Graziadio C, et al. Am J Med Genet A. 2011 May;155A(5):1184-8. doi: 10.1002/ajmg.a.33904. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465652 No abstract available.

10

Trisomy 18: experience of a reference hospital from the south of Brazil.

Rosa RF, Rosa RC, Lorenzen MB, de Moraes FN, Graziadio C, Zen PR, Paskulin GA. Rosa RF, et al. Am J Med Genet A. 2011 Jul;155A(7):1529-35. doi: 10.1002/ajmg.a.34088. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671399

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

116 results

Search Page

Filters