Riegel M - Search Results

1

Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.

Wey E, Bartholdi D, Riegel M, Nazlican H, Horsthemke B, Schinzel A, Baumer A. Wey E, et al. Among authors: riegel m. Eur J Hum Genet. 2005 Mar;13(3):273-7. doi: 10.1038/sj.ejhg.5201337. Eur J Hum Genet. 2005. PMID: 15578038

2

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.

3

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

4

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

5

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.

6

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

7

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

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

Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.

Bartholdi D, Toelle SP, Steiner B, Boltshauser E, Schinzel A, Riegel M. Bartholdi D, et al. Among authors: riegel m. Eur J Med Genet. 2008 Mar-Apr;51(2):113-23. doi: 10.1016/j.ejmg.2007.12.005. Epub 2008 Jan 4. Eur J Med Genet. 2008. PMID: 18262484

10

Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1).

Moreira L, Schinzel A, Baumer A, Pinto P, Góes F, Falcão Mde L, Barbosa AL, Riegel M. Moreira L, et al. Among authors: riegel m. Am J Med Genet A. 2010 Apr;152A(4):977-81. doi: 10.1002/ajmg.a.33322. Am J Med Genet A. 2010. PMID: 20358612

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