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Items: 14

1.

Tetrasomy 18p: report of cognitive and behavioral characteristics.

O'Donnell L, Soileau BT, Sebold C, Gelfond J, Hale DE, Cody JD.

Am J Med Genet A. 2015 Jul;167(7):1474-82. doi: 10.1002/ajmg.a.37036. Epub 2015 Apr 21.

PMID:
25900901
2.

Clinical outcome: a monosomy 18p is better than a tetrasomy 18p.

Wei J, Xie Y, He W, Liu W, Jian W, Chen M, Wang D, Wang X, Sun X.

Cytogenet Genome Res. 2014;144(4):294-8. doi: 10.1159/000371461. Epub 2015 Jan 28.

PMID:
25634515
3.

Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies.

Jaiswal SK, Kumar A, Ali A, Rai AK.

Gene. 2015 Mar 15;559(1):94-8. doi: 10.1016/j.gene.2015.01.042. Epub 2015 Jan 21.

PMID:
25617521
4.

Adults with Chromosome 18 Abnormalities.

Soileau B, Hasi M, Sebold C, Hill A, O'Donnell L, Hale DE, Cody JD.

J Genet Couns. 2015 Aug;24(4):663-74. doi: 10.1007/s10897-014-9793-5. Epub 2014 Nov 19.

PMID:
25403900
5.

Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid confirmation of low-level mosaicism for tetrasomy 18p.

Chen CP, Lin CL, Ko TM, Chern SR, Chen YT, Wu PS, Kuo YL, Lee MS, Wang W.

Taiwan J Obstet Gynecol. 2014 Mar;53(1):126-8. doi: 10.1016/j.tjog.2013.11.003. No abstract available.

6.

Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service.

Lau TK, Jiang FM, Stevenson RJ, Lo TK, Chan LW, Chan MK, Lo PS, Wang W, Zhang HY, Chen F, Choy KW.

Prenat Diagn. 2013 Jun;33(6):602-8. doi: 10.1002/pd.4076. Epub 2013 Apr 2.

PMID:
23553438
7.

Prenatal diagnosis of mosaic tetrasomy 18p.

Chen CP, Ko TM, Su YN, Chern SR, Su JW, Chen YT, Town DD, Wang W.

Taiwan J Obstet Gynecol. 2012 Dec;51(4):625-9. doi: 10.1016/j.tjog.2012.09.020.

8.

Ophthalmic manifestations of tetrasomy 18p.

White WA, Schatz MP, Sebold C, Hale DE, Cody J.

J AAPOS. 2011 Jun;15(3):268-71. doi: 10.1016/j.jaapos.2011.02.011. Epub 2011 Jun 12.

PMID:
21665505
9.

Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype?

Maruotti GM, Fabbrini F, Napolitano R, Genesio R, Conti A, Mallia Milanes G, Mazzarelli LL, Martinelli P.

Am J Med Genet A. 2011 Jan;155A(1):225-7. doi: 10.1002/ajmg.a.33639. Epub 2010 Dec 10. No abstract available.

PMID:
21204237
10.

The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case.

Brambila Tapia AJ, Figuera L, Vázquez Cárdenas NA, Ramírez Torres V, Vázquez Velázquez AI, García Contreras C, Ramírez Dueñas ML.

Genet Couns. 2010;21(3):277-83.

PMID:
20964117
11.

Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.

Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, O'Donnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, Hale DE, Cody JD.

Am J Med Genet A. 2010 Sep;152A(9):2164-72. doi: 10.1002/ajmg.a.33597.

PMID:
20803640
12.

Progressive spastic paraplegia as a feature of tetrasomy 18p.

Nucaro A, Chillotti I, Pisano T, Pruna D, Cianchetti C.

Am J Med Genet A. 2010 Sep;152A(9):2173-5. doi: 10.1002/ajmg.a.33576. No abstract available.

PMID:
20684001
13.

A case with a rare chromosomal abnormality: isochromosome 18p.

Dundar M, Caglayan AO, Saatci C, Cetin Z, Arslan K, Uzak AS.

Genet Couns. 2010;21(1):69-74.

PMID:
20420032
14.

Tetrasomy 18p in a male dysmorphic child in southeast Turkey.

Balkan M, Duran H, Budak T.

J Genet. 2009 Dec;88(3):337-40. No abstract available.

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