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Items: 1 to 20 of 208

1.

Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.

Pauli S, Schmidt T, Funke R, Zoll B, Burfeind P, Dybowski U, Shoukier M, Bartels I.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):480-4. doi: 10.1016/j.ejmg.2012.05.004. Epub 2012 Jun 4.

PMID:
22677035
2.

Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.

Leube B, Majewski F, Gebauer J, Royer-Pokora B.

Am J Med Genet A. 2003 Dec 15;123A(3):296-300.

PMID:
14608653
3.

Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.

Zumkeller W, Volleth M, Muschke P, Tönnies H, Heller A, Liehr T, Wieacker P, Stumm M.

Am J Med Genet A. 2004 Sep 1;129A(3):261-4.

PMID:
15326625
4.

Monozygotic twins discordant for trisomy 13.

Ramsey KW, Slavin TP, Graham G, Hirata GI, Balaraman V, Seaver LH.

J Perinatol. 2012 Apr;32(4):306-8. doi: 10.1038/jp.2011.123.

PMID:
22460600
5.

Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister-Killian syndrome.

Chen CP, Peng CR, Chern SR, Kuo YL, Wu PS, Town DD, Pan CW, Yang CW, Wang W.

Taiwan J Obstet Gynecol. 2014 Dec;53(4):566-71. doi: 10.1016/j.tjog.2014.09.004.

6.

Prenatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: a case report of Pallister-Killian syndrome.

Los FJ, Van Opstal D, Schol MP, Gaillard JL, Brandenburg H, Van Den Ouweland AM, in 't Veld PA.

Prenat Diagn. 1995 Dec;15(12):1155-9.

PMID:
8750296
7.

Monochorionic twins discordant for mosaic trisomy 14.

He M, Pepperell JR, Gundogan F, De Paepe ME, Maggio L, Lu S, Kostadinov S, O'Brien B, Delamonte S, Pinar H, Tantravahi U.

Am J Med Genet A. 2014 May;164A(5):1227-33. doi: 10.1002/ajmg.a.36407. Epub 2014 Jan 23.

PMID:
24458767
8.

Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome.

Ausems MG, Schuil J, Van Raveswaaij-Arts C, De Pater JM.

Genet Couns. 2004;15(4):405-10.

PMID:
15658615
9.

Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p.

Yeung A, Francis D, Giouzeppos O, Amor DJ.

Am J Med Genet A. 2009 Mar;149A(3):505-9. doi: 10.1002/ajmg.a.32664.

PMID:
19215037
10.

Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p.

Vogel I, Lyngbye T, Nielsen A, Pedersen S, Hertz JM.

Am J Med Genet A. 2009 Mar;149A(3):510-4. doi: 10.1002/ajmg.a.32681.

PMID:
19215056
11.

Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.

Eckel H, Wimmer R, Volleth M, Jakubiczka S, Muschke P, Wieacker P.

Am J Med Genet A. 2006 Jun 1;140(11):1219-22.

PMID:
16652358
12.

Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes.

Marcus-Soekarman D, Hamers G, Velzeboer S, Nijhuis J, Loneus WH, Herbergs J, de Die-Smulders C, Schrander-Stumpel C, Engelen J.

Am J Med Genet A. 2004 Jan 30;124A(3):288-91.

PMID:
14708102
13.

Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics.

Polityko AD, Goncharova E, Shamgina L, Drozdovskaja N, Podleschuk L, Abramchik E, Jaroshevich E, Khurs O, Pisarik I, Pribushenya O, Rumyantseva N, Naumchik I.

J Histochem Cytochem. 2005 Mar;53(3):361-4.

PMID:
15750020
15.

Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection.

Schubert R, Viersbach R, Eggermann T, Hansmann M, Schwanitz G.

Am J Med Genet. 1997 Oct 3;72(1):106-10.

PMID:
9295085
16.

aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.

Theisen A, Rosenfeld JA, Farrell SA, Harris CJ, Wetzel HH, Torchia BA, Bejjani BA, Ballif BC, Shaffer LG.

Am J Med Genet A. 2009 May;149A(5):914-8. doi: 10.1002/ajmg.a.32767.

PMID:
19353629
17.

The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem.

Smigiel R, Pilch J, Makowska I, Busza H, Slezak R, Sasiadek MM.

Eur J Pediatr. 2008 Sep;167(9):1063-5. Epub 2007 Nov 14.

PMID:
18000682
18.

Monozygotic twins concordant for blood karyotype, but phenotypically discordant: a case of "mosaic chimerism".

Bourthoumieu S, Yardin C, Terro F, Gilbert B, Laroche C, Saura R, Vincent MC, Esclaire F.

Am J Med Genet A. 2005 Jun 1;135(2):190-4.

PMID:
15832362
19.

Pallister-Killian syndrome: Multiband FISH of tetrasomy 12p.

Gerdes AM, Hansen LK, Brandrup F, Soegaard K, Christoffersen A, Rasmussen K.

Pediatr Dermatol. 2006 Jul-Aug;23(4):378-81.

PMID:
16918638
20.

Cytogenetic study of a severe case of Pallister-Killian syndrome using fluorescence in situ hybridization.

Gamal SM, Hasegawa T, Satoh H, Watanabe T, Endo K, Satoh Y.

Jpn J Hum Genet. 1994 Jun;39(2):259-67. Review.

PMID:
8086644

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