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Items: 1 to 20 of 128

1.

Transfusion medicine illustrated: Mosaic Trisomy 9 in an infant with mixed-field ABO blood grouping.

Lockhart EL, Combs MR, Buck A, Horn S, Deak K.

Transfusion. 2013 Sep;53(9):1884. doi: 10.1111/trf.12094. No abstract available.

PMID:
24015938
2.

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
3.

Ring chromosome 8 with mosaic trisomy 8 syndrome in an infant.

Imataka G, Ishii J, Tsukada K, Suzumura H, Arisaka O.

Genet Couns. 2013;24(4):441-4. No abstract available.

PMID:
24551990
4.

An infant with trisomy 15 mosaicism.

Isikay S, Carman KB.

Clin Dysmorphol. 2013 Oct;22(4):172-4. doi: 10.1097/MCD.0000000000000012. No abstract available.

PMID:
24326963
5.

[Detection of mosaic trisomy 9 missed by conventional cytogenetics using SNP-array and fluorescence in situ hybridization].

Luo Y, Chen S, Li H, Pan L, Shen M, Jin F, Xu C.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Aug;31(4):469-71. doi: 10.3760/cma.j.issn.1003-9406.2014.04.012. Chinese.

PMID:
25119912
6.

Mosaic trisomy 8 syndrome with a novel finding of ectopic kidney.

Aykut A, Cogulu O, Ozkinay F.

Genet Couns. 2012;23(1):77-80. No abstract available.

PMID:
22611646
7.

Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses.

Chen CP, Su YN, Chern SR, Hwu YM, Lin SP, Hsu CH, Tsai FJ, Wang TY, Wu PC, Lee CC, Chen YT, Chen LF, Wang W.

Taiwan J Obstet Gynecol. 2010 Sep;49(3):333-40. doi: 10.1016/S1028-4559(10)60070-8.

8.

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

Izumi K, Santani AB, Deardorff MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK.

Am J Med Genet A. 2013 Jan;161A(1):166-71. doi: 10.1002/ajmg.a.35625. Epub 2012 Dec 7.

PMID:
23225330
9.

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
10.

Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13qter.

Kotzot D, Röthlisberger B, Riegel M, Schinzel A.

J Med Genet. 2001 Dec;38(12):876-81. No abstract available.

11.

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
12.

Trisomy 7 mosaicism: prognosis after prenatal diagnosis.

Warburton D.

Prenat Diagn. 2002 Dec;22(13):1239-40. No abstract available.

PMID:
12478642
13.

Twenty-five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status.

Bruns DA, Campbell E.

Am J Med Genet A. 2015 May;167A(5):997-1007. doi: 10.1002/ajmg.a.36977. Epub 2015 Mar 8.

PMID:
25755087
14.

Molecular blood grouping.

Daniels G.

Vox Sang. 2004 Jul;87 Suppl1:63-6. Review. No abstract available.

PMID:
15200607
15.

Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes for rapid distinguishing of true mosaicism from pseudomosaicism.

Chen CP, Huang HK, Su YN, Chern SR, Su JW, Lee CC, Town DD, Chen WL, Chen YT, Wang W.

Taiwan J Obstet Gynecol. 2012 Mar;51(1):77-82. doi: 10.1016/j.tjog.2012.01.015.

16.

Mosaic trisomy 9 at amniocentesis: prenatal diagnosis and molecular genetic analyses.

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

Taiwan J Obstet Gynecol. 2010 Sep;49(3):341-50. doi: 10.1016/S1028-4559(10)60071-X.

17.

Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8.

Leon E, Jamal SM, Zou YS, Milunsky JM.

Am J Med Genet A. 2011 Jul;155A(7):1740-4. doi: 10.1002/ajmg.a.34073. Epub 2011 Jun 10.

PMID:
21671393
18.

Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies.

Ensenauer RE, Shaughnessy WJ, Jalal SM, Dawson DB, Courteau LK, Ellison JW.

Am J Med Genet A. 2005 Apr 15;134A(2):202-6. Review.

PMID:
15690403
19.

Advances in whole-genome genetic testing: from chromosomes to microarrays.

Crotwell PL, Hoyme HE.

Curr Probl Pediatr Adolesc Health Care. 2012 Mar;42(3):47-73. doi: 10.1016/j.cppeds.2011.10.004. Review.

PMID:
22325474
20.

Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus.

Schlegel M, Baumer A, Riegel M, Wiedemann U, Schinzel A.

Prenat Diagn. 2002 May;22(5):418-21. Erratum in: Prenat Diagn 2002 Nov;22(11):1056.

PMID:
12001199

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