Baumer A - Search Results

1

High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.

Oneda B, Baldinger R, Reissmann R, Reshetnikova I, Krejci P, Masood R, Ochsenbein-Kölble N, Bartholdi D, Steindl K, Morotti D, Faranda M, Baumer A, Asadollahi R, Joset P, Niedrist D, Breymann C, Hebisch G, Hüsler M, Mueller R, Prentl E, Wisser J, Zimmermann R, Rauch A. Oneda B, et al. Among authors: baumer a. Prenat Diagn. 2014 Jun;34(6):525-33. doi: 10.1002/pd.4342. Epub 2014 Mar 21. Prenat Diagn. 2014. PMID: 24919595

2

Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11.

Dutly F, Baumer A, Kayserili H, Yüksel-Apak M, Zerova T, Hebisch G, Schinzel A. Dutly F, et al. Among authors: baumer a. Am J Med Genet. 1998 Oct 12;79(5):347-53. doi: 10.1002/(sici)1096-8628(19981012)79:5<347::aid-ajmg4>3.0.co;2-g. Am J Med Genet. 1998. PMID: 9779800

3

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

4

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

Riegel M, Baumer A, Wisser J, Acherman J, Schinzel A. Riegel M, et al. Among authors: baumer a. 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

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

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

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. Among authors: baumer a. Prenat Diagn. 2006 Mar;26(3):221-5. doi: 10.1002/pd.1383. Prenat Diagn. 2006. PMID: 16475225

8

Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.

Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshauser E, Schinzel A, Berger W, Mátyás G. Bartholdi D, et al. Among authors: baumer a. Clin Genet. 2006 Apr;69(4):319-26. doi: 10.1111/j.1399-0004.2006.00604.x. Clin Genet. 2006. PMID: 16630165

9

Pre- and postnatal findings in trisomy 17 mosaicism.

Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L, Fauth C, Baldinger R, Johnson J, Erdel M, Taralczak M, Pauli RM, Baumer A, Schinzel A, Kotzot D. Utermann B, et al. Among authors: baumer a. Am J Med Genet A. 2006 Aug 1;140(15):1628-36. doi: 10.1002/ajmg.a.31319. Am J Med Genet A. 2006. PMID: 16802327

10

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: baumer a. Prenat Diagn. 2008 Aug;28(8):759-63. doi: 10.1002/pd.2031. Prenat Diagn. 2008. PMID: 18567067

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