Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 99

1.

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.

Petry P, Polli JB, Mattos VF, Rosa RC, Zen PR, Graziadio C, Paskulin GA, Rosa RF.

Am J Med Genet A. 2013 Jun;161A(6):1278-83. doi: 10.1002/ajmg.a.35863. Epub 2013 Apr 23.

PMID:
23613355
[PubMed - in process]
2.

Gestational, perinatal and family findings of patients with Patau syndrome.

Rosa RF, Sarmento MV, Polli JB, Groff Dde P, Petry P, Mattos VF, Rosa RC, Trevisan P, Zen PR.

Rev Paul Pediatr. 2013 Dec;31(4):459-65. doi: 10.1590/S0103-05822013000400007. English, Portuguese.

PMID:
24473950
[PubMed - in process]
Free PMC Article
3.

Phenotypic variability in Patau syndrome.

Caba L, Rusu C, Butnariu L, Panzaru M, Braha E, Volosciuc M, Popescu R, Gramescu M, Bujoran C, Martiniuc V, Covic M, Gorduza EV.

Rev Med Chir Soc Med Nat Iasi. 2013 Apr-Jun;117(2):321-7.

PMID:
24340511
[PubMed - indexed for MEDLINE]
4.

Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism.

Hsu HF, Hou JW.

Am J Med Genet A. 2007 Aug 1;143A(15):1739-48.

PMID:
17603803
[PubMed - indexed for MEDLINE]
5.

Trisomy 18 and neural tube defects.

Rosa RF, Trevisan P, Rosa RC, Lorenzen MB, Zen PR, Oliveira CA, Graziadio C, Paskulin GA.

Pediatr Neurol. 2013 Sep;49(3):203-4. doi: 10.1016/j.pediatrneurol.2013.03.010. Epub 2013 Jul 4.

PMID:
23831245
[PubMed - indexed for MEDLINE]
6.

Craniofacial abnormalities among patients with Edwards Syndrome.

Rosa RF, Rosa RC, Lorenzen MB, Zen PR, Graziadio C, Paskulin GA.

Rev Paul Pediatr. 2013 Sep;31(3):293-8. doi: 10.1590/S0103-05822013000300004. English, Portuguese.

PMID:
24142310
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases.

Plaiasu V, Ochiana D, Motei G, Anca I, Georgescu A.

Maedica (Buchar). 2010 Jul;5(3):178-85.

PMID:
21977150
[PubMed]
Free PMC Article
8.

Limb abnormalities on trisomy 18: evidence for early diagnosis.

Rosa RF, Rosa RC, Lorenzen MB, Zen PR, Oliveira CA, Graziadio C, Paskulin GA.

J Pediatr (Rio J). 2012 Sep-Oct;88(5):401-5. doi: doi:10.2223/JPED.2212. Epub 2012 Sep 22. English, Portuguese.

PMID:
23002079
[PubMed - indexed for MEDLINE]
Free Article
9.

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.

Am J Med Genet A. 2011 Jul;155A(7):1529-35. doi: 10.1002/ajmg.a.34088. Epub 2011 Jun 10.

PMID:
21671399
[PubMed - indexed for MEDLINE]
10.

Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004.

Lin HY, Lin SP, Chen YJ, Hung HY, Kao HA, Hsu CH, Chen MR, Chang JH, Ho CS, Huang FY, Shyur SD, Lin DS, Lee HC.

Am J Med Genet A. 2006 May 1;140(9):945-51.

PMID:
16528742
[PubMed - indexed for MEDLINE]
11.

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

Rosa RF, Mombach R, Zen PR, Graziadio C, Paskulin GA.

Rev Assoc Med Bras. 2010 Jul-Aug;56(4):462-5. English, Portuguese.

PMID:
20835645
[PubMed - indexed for MEDLINE]
Free Article
12.

A girl with metopic synostosis and trisomy 13 mosaicism: case report and review of the literature.

Aypar E, Yildirim MS, Sert A, Ciftci I, Odabas D.

Am J Med Genet A. 2011 Mar;155A(3):638-41. doi: 10.1002/ajmg.a.33839. Epub 2011 Feb 22. Review.

PMID:
21344634
[PubMed - indexed for MEDLINE]
13.

Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review.

Griffith CB, Vance GH, Weaver DD.

Am J Med Genet A. 2009 Jun;149A(6):1346-58. doi: 10.1002/ajmg.a.32883.

PMID:
19449431
[PubMed - indexed for MEDLINE]
14.

Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil.

Denardin D, Savaris FE, Cunha AC, Betat RD, Telles JA, Targa LV, Weiss A, Zen PR, Rosa RF.

Sao Paulo Med J. 2014 Nov 7;0:0. [Epub ahead of print]

PMID:
25388684
[PubMed - as supplied by publisher]
Free Article
15.

Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004.

Lin HY, Lin SP, Chen YJ, Hsu CH, Kao HA, Chen MR, Hung HY, Ho CS, Chang JH, Huang FY, Tsai TC, Lin DS, Chan WT.

Pediatr Int. 2007 Jun;49(3):380-6.

PMID:
17532840
[PubMed - indexed for MEDLINE]
16.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

Jamsheer A, Sowińska A, Simon D, Jamsheer-Bratkowska M, Trzeciak T, Latos-Bieleńska A.

BMC Med Genet. 2013 Jan 24;14:13. doi: 10.1186/1471-2350-14-13.

PMID:
23342975
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Patau syndrome with long survival in a case of unusual mosaic trisomy 13.

Fogu G, Maserati E, Cambosu F, Moro MA, Poddie F, Soro G, Bandiera P, Serra G, Tusacciu G, Sanna G, Mazzarello V, Montella A.

Eur J Med Genet. 2008 Jul-Aug;51(4):303-14. doi: 10.1016/j.ejmg.2008.03.004. Epub 2008 Apr 9.

PMID:
18495567
[PubMed - indexed for MEDLINE]
18.

Trisomy 14 mosaicism: clinical and cytogenetic findings in an adult.

Fagerberg CR, Eriksen FB, Thormann J, Østergaard JR.

Clin Dysmorphol. 2012 Jan;21(1):45-7. doi: 10.1097/MCD.0b013e32834a0436.

PMID:
21857505
[PubMed - indexed for MEDLINE]
19.

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.

Sao Paulo Med J. 2011 Dec;129(6):428-32.

PMID:
22249800
[PubMed - indexed for MEDLINE]
Free Article
20.

Trisomy 8 mosaicism syndrome.

Fineman RM, Ablow RC, Howard RO, Albright J, Breg WR.

Pediatrics. 1975 Nov;56(5):762-7.

PMID:
1196733
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk