Riegel M - Search Results

1

Monochorionic-diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygote.

Zech NH, Wisser J, Natalucci G, Riegel M, Baumer A, Schinzel A. Zech NH, et al. Among authors: riegel m. Prenat Diagn. 2008 Aug;28(8):759-63. doi: 10.1002/pd.2031. Prenat Diagn. 2008. PMID: 18567067

2

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. Schlegel M, et al. Among authors: riegel m. Prenat Diagn. 2002 May;22(5):418-21. doi: 10.1002/pd.337. Prenat Diagn. 2002. PMID: 12001199

3

Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations.

Riegel M, Wisser J, Baumer A, Schinzel A. Riegel M, et al. Prenat Diagn. 2006 Mar;26(3):221-5. doi: 10.1002/pd.1383. Prenat Diagn. 2006. PMID: 16475225

4

Prenatal diagnosis of mosaicism for a del(22)(q13).

Riegel M, Baumer A, Wisser J, Acherman J, Schinzel A. Riegel M, et al. Prenat Diagn. 2000 Jan;20(1):76-9. doi: 10.1002/(sici)1097-0223(200001)20:1<76::aid-pd752>3.0.co;2-m. Prenat Diagn. 2000. PMID: 10701858

5

Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion.

Baumer A, Riegel M, Schinzel A. Baumer A, et al. Among authors: riegel m. J Med Genet. 2004 Jun;41(6):413-20. doi: 10.1136/jmg.2003.016352. J Med Genet. 2004. PMID: 15173225 Free PMC article.

6

Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?

Riegel M, Schinzel A. Riegel M, et al. Am J Med Genet. 2002 Jul 22;111(1):76-80. doi: 10.1002/ajmg.10534. Am J Med Genet. 2002. PMID: 12124740 Review.

7

An unusual reciprocal translocation detected by subtelomeric FISH: interstitial and not terminal.

Riegel M, Baumer A, Süss J, Schinzel A. Riegel M, et al. Am J Med Genet A. 2005 May 15;135(1):86-90. doi: 10.1002/ajmg.a.30683. Am J Med Genet A. 2005. PMID: 15809996

8

Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations.

Tyshchenko NA, Riegel M, Evseenkova EG, Zerova TE, Gorovenko NG, Schinzel A. Tyshchenko NA, et al. Among authors: riegel m. Eur J Med Genet. 2007 Mar-Apr;50(2):128-32. doi: 10.1016/j.ejmg.2006.10.008. Epub 2006 Nov 10. Eur J Med Genet. 2007. PMID: 17174617

9

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.

Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A. Riegel M, et al. Am J Med Genet. 1999 Jan 29;82(3):249-53. doi: 10.1002/(sici)1096-8628(19990129)82:3<249::aid-ajmg10>3.0.co;2-8. Am J Med Genet. 1999. PMID: 10215549

10

Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21.

Riegel M, Hargreaves P, Baumer A, Guc-Scekic M, Ignjatovic M, Schinzel A. Riegel M, et al. Eur J Med Genet. 2005 Apr-Jun;48(2):167-74. doi: 10.1016/j.ejmg.2005.01.026. Epub 2005 Feb 17. Eur J Med Genet. 2005. PMID: 16053908

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