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Items: 1 to 20 of 93

1.

Non-mosaic uniparental trisomy 16 presenting with asplenia syndrome and placental abruption: a case report and literature review.

Su MT, Liang YL, Chen JC, Sun HS, Chang FM, Kuo PL.

Eur J Med Genet. 2013 Apr;56(4):197-201. doi: 10.1016/j.ejmg.2013.01.010. Epub 2013 Feb 8. Review.

PMID:
23395980
2.

Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism.

Christian SL, Smith AC, Macha M, Black SH, Elder FF, Johnson JM, Resta RG, Surti U, Suslak L, Verp MS, Ledbetter DH.

Prenat Diagn. 1996 Apr;16(4):323-32.

PMID:
8734806
3.

Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases.

Hsu WT, Shchepin DA, Mao R, Berry-Kravis E, Garber AP, Fischel-Ghodsian N, Falk RE, Carlson DE, Roeder ER, Leeth EA, Hajianpour MJ, Wang JC, Rosenblum-Vos LS, Bhatt SD, Karson EM, Hux CH, Trunca C, Bialer MG, Linn SK, Schreck RR.

Am J Med Genet. 1998 Dec 28;80(5):473-80.

PMID:
9880211
4.

Variable outcomes in mosaic trisomy 16: five case reports and literature analysis.

Neiswanger K, Hohler PM, Hively-Thomas LB, McPherson EW, Hogge WA, Surti U.

Prenat Diagn. 2006 May;26(5):454-61. Review.

PMID:
16557642
5.

A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9.

Wilkinson TA, James RS, Crolla JA, Cockwell AE, Campbell PL, Temple IK.

Prenat Diagn. 1996 Apr;16(4):371-4.

PMID:
8734817
6.

Non-mosaic trisomy 16 in a third-trimester fetus.

Yancey MK, Hardin EL, Pacheco C, Kuslich CD, Donlon TA.

Obstet Gynecol. 1996 May;87(5 Pt 2):856-60.

PMID:
8677115
7.

Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.

Petit F, Holder-Espinasse M, Duban-Bedu B, Bouquillon S, Boute-Benejean O, Bazin A, Rouland V, Manouvrier-Hanu S, Delobel B.

Clin Genet. 2012 Mar;81(3):265-71. doi: 10.1111/j.1399-0004.2010.01621.x. Epub 2011 Jan 19.

PMID:
21204802
8.

Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review.

Chen CP, Chen M, Pan YJ, Su YN, Chern SR, Tsai FJ, Chen YT, Wang W.

Taiwan J Obstet Gynecol. 2011 Sep;50(3):331-8. doi: 10.1016/j.tjog.2011.07.013. Review.

9.

Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases.

Eggermann T, Curtis M, Zerres K, Hughes HE.

Genet Couns. 2004;15(2):183-90. Review.

PMID:
15287418
10.

Mosaic trisomy 11 in a fetus with bilateral renal agenesis: co-incidence or new association?

Balasubramanian M, Peres LC, Pelly D.

Clin Dysmorphol. 2011 Jan;20(1):47-9. doi: 10.1097/MCD.0b013e32833ff2e9.

PMID:
20966746
11.

Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7.

Font-Montgomery E, Stone KM, Weaver DD, Vance GH, Das S, Thurston VC.

Birth Defects Res A Clin Mol Teratol. 2005 Aug;73(8):577-82.

PMID:
16007591
12.

Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus.

Bilimoria KY, Rothenberg JM.

Am J Med Genet A. 2003 Apr 1;118A(1):60-3.

PMID:
12605443
13.

The association between preeclampsia and placental trisomy 16 mosaicism.

Yong PJ, Langlois S, von Dadelszen P, Robinson W.

Prenat Diagn. 2006 Oct;26(10):956-61.

PMID:
16874839
15.

Uniparental disomy for chromosome 16 in humans.

Kalousek DK, Langlois S, Barrett I, Yam I, Wilson DR, Howard-Peebles PN, Johnson MP, Giorgiutti E.

Am J Hum Genet. 1993 Jan;52(1):8-16.

16.

Are all cases of low-grade mosaic trisomy 13 in amniotic fluid with no fetal malformation in fact confined placental mosaicism? A case report.

Etoubleau C, Bourthoumieu S, Fiorenza M, Aubard V, Yardin C.

Morphologie. 2011 Dec;95(311):142-5. doi: 10.1016/j.morpho.2011.07.117. Epub 2011 Nov 10.

PMID:
22079601
18.

Prenatal diagnosis of mosaic 4p- in a fetus with trisomy 21.

Phelan MC, Saul RA, Gailey TA Jr, Skinner SA.

Prenat Diagn. 1995 Mar;15(3):274-7.

PMID:
7784386
19.

An audit of trisomy 16 in man.

Wolstenholme J.

Prenat Diagn. 1995 Feb;15(2):109-21. Review.

PMID:
7784361
20.

Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies.

Genuardi M, Tozzi C, Pomponi MG, Stagni ML, Della Monica M, Scarano G, Calvieri F, Torrisi L, Neri G.

Eur J Hum Genet. 1999 May-Jun;7(4):421-6.

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