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Items: 1 to 20 of 170

1.

The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: follow up in a 14-year-old girl.

Rittinger O, Kronberger G, Pfeifenberger A, Kotzot D, Fauth C.

Eur J Med Genet. 2008 Nov-Dec;51(6):573-9. doi: 10.1016/j.ejmg.2008.07.004. Epub 2008 Jul 26.

PMID:
18706534
2.

Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia.

Wulfsberg EA, Wassel WC, Polo CA.

Clin Genet. 1991 May;39(5):370-5.

PMID:
1860253
3.

Diploid/triploid mosaicism in dysmorphic patients.

van de Laar I, Rabelink G, Hochstenbach R, Tuerlings J, Hoogeboom J, Giltay J.

Clin Genet. 2002 Nov;62(5):376-82. Review.

PMID:
12431252
4.

Diploid/triploid mosaicism: further delineation of the phenotype.

Carakushansky G, Teich E, Ribeiro MG, Horowitz DD, Pellegrini S.

Am J Med Genet. 1994 Oct 1;52(4):399-401.

PMID:
7747751
5.

Novel presentation of central core disease with nemaline bodies (rods) in the setting of diploid/triploid mosaicism.

Shafi NB, Parker JC Jr, Atkinson JB, Parker JR.

Ann Clin Lab Sci. 2007 Spring;37(2):177-81.

PMID:
17522375
6.

MCA/MR syndrome in a female infant with tetraploidy mosaicism: review of the human polyploid phenotype.

Wilson GN, Vekemans MJ, Kaplan P.

Am J Med Genet. 1988 Aug;30(4):953-61. Review.

PMID:
3055989
7.

[Diploid/triploid mosaicism: a variable but characteristic phenotype].

Natera-De Benito D, Poo P, Gean E, Vicente-Villa A, García-Cazorla A, Fons-Estupiña MC.

Rev Neurol. 2014 Aug 16;59(4):158-63. Review. Spanish.

9.

46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty.

Järvelä IE, Salo MK, Santavuori P, Salonen RK.

J Med Genet. 1993 Nov;30(11):966-7.

10.

Mixoploidy in humans: two surviving cases of diploid-tetraploid mixoploidy and comparison with diploid-triploid mixoploidy.

Edwards MJ, Park JP, Wurster-Hill DH, Graham JM Jr.

Am J Med Genet. 1994 Sep 1;52(3):324-30.

PMID:
7810564
11.

Three different origins for apparent triploid/diploid mosaics.

Daniel A, Wu Z, Darmanian A, Collins F, Jackson J.

Prenat Diagn. 2003 Jul;23(7):529-34.

PMID:
12868076
12.

Second polar body inclusion results in diploid/triploid mixoploidy.

Brems H, Vogels A, Ribai P, De Raedt T, Fryns JP, Legius E.

Genet Couns. 2003;14(4):425-9.

PMID:
14738117
13.

Ocular findings in triploidy.

Fulton AB, Howard RO, Albert DM, Hsia YE, Packman S.

Am J Ophthalmol. 1977 Dec;84(6):859-67.

PMID:
413437
14.

Karyotype, phenotype and parental origin in 19 cases of triploidy.

Daniel A, Wu Z, Bennetts B, Slater H, Osborn R, Jackson J, Pupko V, Nelson J, Watson G, Cooke-Yarborough C, Loo C.

Prenat Diagn. 2001 Dec;21(12):1034-48.

PMID:
11746161
15.

Diploid-triploid and tetraploid mosaicism in a child with cryptogenic cirrhosis and membranous glomerulonephritis: a causal relationship or coincidental association?

Topaloğlu R, Aktaş D, Bakkaloğlu A, Balci S, Doğru D, Oztürk R.

Turk J Pediatr. 1998 Jan-Mar;40(1):139-43.

PMID:
9673542
16.

Diploid-triploid mosaicism: delineation of the syndrome.

Tharapel AT, Wilroy RS, Martens PR, Holbert JM, Summitt RL.

Ann Genet. 1983;26(4):229-33.

PMID:
6607703
17.

A diploid-triploid human mosaic with cytogenetic evidence of double fertilization.

Dewald G, Alvarez MN, Cloutier MD, Kelalis PP, Gordon H.

Clin Genet. 1975 Aug;8(2):149-60.

PMID:
240527
18.

Pigmentary mosaicism of the hyperpigmented type in two half-brothers.

Horn D, Happle R, Neitzel H, Kunze J.

Am J Med Genet. 2002 Sep 15;112(1):65-9.

PMID:
12239723
19.

Congenital asymmetry and diploid-triploid mosaicism.

Jenkins ME, Eisen J, Sequin F.

Am J Dis Child. 1971 Jul;122(1):80-4. No abstract available.

PMID:
5567414
20.

Triploid-diploid mosaïcism in a deeply mentally retarded adult.

Fryns JP, Vinken L, Geutjens J, Marien J, Deroover J, Van Den Berghe H.

Ann Genet. 1980;23(4):232-4.

PMID:
6971602
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