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Variable clinical expression of mosaic trisomy 16 in the newborn infant.
Kalousek DK. Kalousek DK. Am J Med Genet. 1994 Aug 1;52(1):115-6. doi: 10.1002/ajmg.1320520122. Am J Med Genet. 1994. PMID: 7977453 No abstract available.
Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism.
Yong PJ, Barrett IJ, Kalousek DK, Robinson WP. Yong PJ, et al. Among authors: kalousek dk. J Med Genet. 2003 Mar;40(3):175-82. doi: 10.1136/jmg.40.3.175. J Med Genet. 2003. PMID: 12624135 Free PMC article.
An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.
Peñaherrera MS, Barrett IJ, Brown CJ, Langlois S, Yong SL, Lewis S, Bruyère H, Howard-Peebles PN, Kalousek DK, Robinson WP. Peñaherrera MS, et al. Among authors: kalousek dk. Clin Genet. 2000 Dec;58(6):436-46. doi: 10.1034/j.1399-0004.2000.580603.x. Clin Genet. 2000. PMID: 11149612
Mosaicism most likely accounts for extended survival of trisomy 22.
Robinson WP, Kalousek DK. Robinson WP, et al. Among authors: kalousek dk. Am J Med Genet. 1996 Mar 1;62(1):100-1. doi: 10.1002/(SICI)1096-8628(19960301)62:1<100::AID-AJMG21>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8779317 No abstract available.
Detection of confined placental mosaicism in trisomy 18 conceptions using interphase cytogenetic analysis.
Harrison KJ, Barrett IJ, Lomax BL, Kuchinka BD, Kalousek DK. Harrison KJ, et al. Among authors: kalousek dk. Hum Genet. 1993 Oct;92(4):353-8. doi: 10.1007/BF01247334. Hum Genet. 1993. PMID: 8225315
Molecular cytogenetic detection of confined gonadal mosaicism in a conceptus with trisomy 16 placental mosaicism.
Stavropoulos DJ, Bick D, Kalousek DK. Stavropoulos DJ, et al. Among authors: kalousek dk. Am J Hum Genet. 1998 Dec;63(6):1912-4. doi: 10.1086/302149. Am J Hum Genet. 1998. PMID: 9837845 Free PMC article. No abstract available.
Differential diagnosis of posterior cervical hygroma in previable fetuses.
Kalousek DK, Seller MJ. Kalousek DK, et al. Am J Med Genet Suppl. 1987;3:83-92. doi: 10.1002/ajmg.1320280511. Am J Med Genet Suppl. 1987. PMID: 3130882
Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.
Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois S, Kalousek DK. Robinson WP, et al. Among authors: kalousek dk. Am J Hum Genet. 1997 Apr;60(4):917-27. Am J Hum Genet. 1997. PMID: 9106539 Free PMC article.
Evidence for imprinting on chromosome 16: the effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies.
Yong PJ, Marion SA, Barrett IJ, Kalousek DK, Robinson WP. Yong PJ, et al. Among authors: kalousek dk. Am J Med Genet. 2002 Oct 1;112(2):123-32. doi: 10.1002/ajmg.10702. Am J Med Genet. 2002. PMID: 12244544
Pathogenesis of chromosomal mosaicism and its effect on early human development.
Kalousek DK. Kalousek DK. Am J Med Genet. 2000 Mar 6;91(1):39-45. doi: 10.1002/(sici)1096-8628(20000306)91:1<39::aid-ajmg7>3.0.co;2-l. Am J Med Genet. 2000. PMID: 10751087
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