Baumer A - Search Results

1

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.

Sharp AJ, Migliavacca E, Dupre Y, Stathaki E, Sailani MR, Baumer A, Schinzel A, Mackay DJ, Robinson DO, Cobellis G, Cobellis L, Brunner HG, Steiner B, Antonarakis SE. Sharp AJ, et al. Among authors: baumer a. Genome Res. 2010 Sep;20(9):1271-8. doi: 10.1101/gr.108597.110. Epub 2010 Jul 14. Genome Res. 2010. PMID: 20631049 Free PMC article.

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: baumer a. Prenat Diagn. 2002 May;22(5):418-21. doi: 10.1002/pd.337. Prenat Diagn. 2002. PMID: 12001199

3

A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms.

Baumer A, Wiedemann U, Hergersberg M, Schinzel A. Baumer A, et al. Hum Mutat. 2001 May;17(5):423-30. doi: 10.1002/humu.1118. Hum Mutat. 2001. PMID: 11317358

4

Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta.

Balmer D, Baumer A, Röthlisberger B, Schinzel A. Balmer D, et al. Among authors: baumer a. Prenat Diagn. 1999 Nov;19(11):1061-4. doi: 10.1002/(sici)1097-0223(199911)19:11<1061::aid-pd687>3.0.co;2-q. Prenat Diagn. 1999. PMID: 10589061

5

Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.

Nazarenko S, Sazhenova E, Baumer A, Schinzel A. Nazarenko S, et al. Among authors: baumer a. Eur J Hum Genet. 2004 May;12(5):411-4. doi: 10.1038/sj.ejhg.5201168. Eur J Hum Genet. 2004. PMID: 14997184

6

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: baumer a. Eur J Hum Genet. 2005 Mar;13(3):273-7. doi: 10.1038/sj.ejhg.5201337. Eur J Hum Genet. 2005. PMID: 15578038

7

No evidence of submicroscopic deletion or segmental uniparental disomy within the candidate regions 7p11.2-p13 and 7q31-qter in a series of non-uniparental disomy Silver-Russell syndrome cases.

Riegel M, Baumer A, Schinzel A. Riegel M, et al. Among authors: baumer a. Clin Genet. 2003 Sep;64(3):252-4. doi: 10.1034/j.1399-0004.2003.00135.x. Clin Genet. 2003. PMID: 12919141 No abstract available.

8

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. J Med Genet. 2004 Jun;41(6):413-20. doi: 10.1136/jmg.2003.016352. J Med Genet. 2004. PMID: 15173225 Free PMC article.

9

Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male.

Baumer A, Basaran S, Taralczak M, Cefle K, Ozturk S, Palanduz S, Schinzel A. Baumer A, et al. Cytogenet Genome Res. 2007;118(1):38-41. doi: 10.1159/000106439. Cytogenet Genome Res. 2007. PMID: 17901698 Free article.

10

Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy.

Baumer A, Dres D, Basaran S, Isçi H, Dehgan T, Schinzel A. Baumer A, et al. Cytogenet Genome Res. 2003;101(1):5-7. doi: 10.1159/000073410. Cytogenet Genome Res. 2003. PMID: 14571129 Free article.

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