Baumer A - Search Results

1

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A. Bartholdi D, et al. Among authors: baumer a. J Med Genet. 2009 Mar;46(3):192-7. doi: 10.1136/jmg.2008.061820. Epub 2008 Dec 9. J Med Genet. 2009. PMID: 19066168 Free article.

2

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.

3

Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance.

Gaspar H, Albermann K, Baumer A, Schinzel A. Gaspar H, et al. Among authors: baumer a. Am J Med Genet A. 2008 Jun 1;146A(11):1453-7. doi: 10.1002/ajmg.a.32314. Am J Med Genet A. 2008. PMID: 18449925

4

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

5

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

6

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.

7

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.

Kotzot D, Martinez MJ, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzanowska K, Dutly F, Gutkowska A, Karaüzüm SB, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A. Kotzot D, et al. Among authors: baumer a. J Med Genet. 2000 Apr;37(4):281-6. doi: 10.1136/jmg.37.4.281. J Med Genet. 2000. PMID: 10745046 Free PMC article.

8

Maternal uniparental disomy 7--review and further delineation of the phenotype.

Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BC, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. Kotzot D, et al. Among authors: baumer a. Eur J Pediatr. 2000 Apr;159(4):247-56. doi: 10.1007/s004310050064. Eur J Pediatr. 2000. PMID: 10789928

9

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

10

Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria.

Baumer A, Balmer D, Schinzel A. Baumer A, et al. Hum Genet. 1999 Dec;105(6):598-602. doi: 10.1007/s004399900197. Hum Genet. 1999. PMID: 10647895 Free article.

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