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Items: 1 to 20 of 166

1.

Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry.

Chen CP, Chen M, Chen CY, Chern SR, Wu PS, Chang SP, Kuo YL, Chen WL, Pan CW, Wang W.

Gene. 2014 Feb 25;536(2):425-9. doi: 10.1016/j.gene.2013.12.036.

PMID:
24374139
2.

3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization.

Chen CP, Lin CJ, Chen YY, Wang LK, Chern SR, Wu PS, Su JW, Chen LF, Town DD, Pan CW, Wang W.

Gene. 2013 Dec 10;532(1):80-6. doi: 10.1016/j.gene.2013.09.025. Review.

PMID:
24055486
3.

Prenatal diagnosis of a partial trisomy 13q (q14-->qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization.

Machado IN, Heinrich JK, Campanhol C, Rodrigues-Peres RM, Oliveira FM, Barini R.

Genet Mol Res. 2010 Mar 16;9(1):441-8. doi: 10.4238/vol9-1gmr716.

4.

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) associated with abnormal maternal serum biochemistry.

Chen CP, Su YN, Lin SP, Chern SR, Su JW, Chen YT, Lee MS, Wang W.

Taiwan J Obstet Gynecol. 2013 Mar;52(1):120-4. doi: 10.1016/j.tjog.2013.01.015.

5.

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry.

Chen CP, Hwang KS, Su HY, Lin SP, Su YN, Chern SR, Su JW, Chen YT, Chen WL, Wang W.

Taiwan J Obstet Gynecol. 2013 Mar;52(1):125-8. doi: 10.1016/j.tjog.2012.08.002.

6.

Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.

Villa O, Del Campo M, Salido M, Gener B, Astier L, Del Valle J, Gallastegui F, Pérez-Jurado LA, Solé F.

Am J Med Genet A. 2007 May 15;143A(10):1108-13.

PMID:
17431916
7.
8.

De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency.

Brisset S, Kasakyan S, L'Herminé AC, Mairovitz V, Gautier E, Aubry MC, Benkhalifa M, Tachdjian G.

Prenat Diagn. 2006 Mar;26(3):206-13.

PMID:
16450348
9.

Screening for trisomy 21 by fetal tricuspid regurgitation, nuchal translucency and maternal serum free beta-hCG and PAPP-A at 11 + 0 to 13 + 6 weeks.

Falcon O, Auer M, Gerovassili A, Spencer K, Nicolaides KH.

Ultrasound Obstet Gynecol. 2006 Feb;27(2):151-5.

10.

Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.

Beaujard MP, Jouannic JM, Bessières B, Borie C, Martin-Luis I, Fallet-Bianco C, Portnoï MF.

Prenat Diagn. 2005 Jun;25(6):451-5.

PMID:
15966060
11.

Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis.

Wang JC, Steinraths M, Dang L, Lomax B, Eydoux P, Stockley T, Yong SL, Van Allen MI.

Am J Med Genet A. 2007 Dec 15;143A(24):2931-6.

PMID:
17955513
12.

Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature.

Sifakis S, Eleftheriades M, Kappou D, Murru R, Konstantinidou A, Orru S, Ziegler M, Liehr T, Manolakos E, Papoulidis I.

Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):284-93. doi: 10.1002/bdra.23213. Review.

PMID:
24677675
13.

Partial monosomy 13q (13q21.32--->qter) and partial trisomy 8p (8p1--->pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization.

Chen CP, Su YN, Tsai FJ, Lin MH, Wu PC, Chern SR, Lee CC, Pan CW, Wang W.

Taiwan J Obstet Gynecol. 2011 Jun;50(2):205-11. doi: 10.1016/j.tjog.2010.04.001.

14.

Prenatal diagnosis of a fetus affected with Down syndrome and deletion 1p36 syndrome by fluorescence in situ hybridization and spectral karyotyping.

Hsieh LJ, Hsieh TC, Yeh GP, Lin MI, Chen M, Wang BB.

Fetal Diagn Ther. 2004 Jul-Aug;19(4):356-60.

PMID:
15192296
15.

A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings.

Chen CP, Huang HK, Ling PY, Su YN, Chen M, Tsai FJ, Wu PC, Chern SR, Chen YT, Lee CC, Wang W.

Taiwan J Obstet Gynecol. 2011 Dec;50(4):492-8. doi: 10.1016/j.tjog.2011.10.016.

16.

Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly.

Chen CP, Chen M, Su YN, Tsai FJ, Chern SR, Hsu CY, Wu PC, Town DD, Lee DJ, Ma GC, Wang W.

Taiwan J Obstet Gynecol. 2010 Sep;49(3):320-6. doi: 10.1016/S1028-4559(10)60068-X.

17.

Inv dup del(10q): identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements.

Chen CP, Chen M, Su YN, Huang JP, Ma GC, Chang SP, Chern SR, Chen YT, Su JW, Lee CC, Town DD, Wang W.

Taiwan J Obstet Gynecol. 2012 Jun;51(2):245-52. doi: 10.1016/j.tjog.2012.04.015.

18.

[Karyotype analysis of amniotic fluid cells and comparison of chromosomal abnormality rate during second trimester].

Zhang YP, Wu JP, Li XT, Lei CX, Xu JZ, Yin M.

Zhonghua Fu Chan Ke Za Zhi. 2011 Sep;46(9):644-8. Chinese.

PMID:
22176986
19.

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1→q31.1).

Chen CP, Chang SJ, Chern SR, Wu PS, Chen YT, Su JW, Chen WL, Wang W.

Gene. 2013 Jun 1;521(2):311-5. doi: 10.1016/j.gene.2013.03.100.

PMID:
23545313
20.

Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter).

Chen CP, Chern SR, Lin CC, Wang TH, Li YC, Hsieh LJ, Lee CC, Hua HM, Wang W.

Prenat Diagn. 2006 Apr;26(4):313-20. Review.

PMID:
16506269

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