Baumer A - Search Results

1

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Sandoval N, Platzer M, Rosenthal A, Dörk T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D. Sandoval N, et al. Among authors: baumer a. Hum Mol Genet. 1999 Jan;8(1):69-79. doi: 10.1093/hmg/8.1.69. Hum Mol Genet. 1999. PMID: 9887333

2

New mutations in the ataxia telangiectasia gene.

Baumer A, Bernthaler U, Wolz W, Hoehn H, Schindler D. Baumer A, et al. Hum Genet. 1996 Aug;98(2):246-9. doi: 10.1007/s004390050202. Hum Genet. 1996. PMID: 8698354

3

Exploring the role of oxygen in Fanconi's anemia.

Liebetrau W, Rünge TM, Baumer A, Henning C, Gross O, Schindler D, Poot M, Hoehn H. Liebetrau W, et al. Among authors: baumer a. Recent Results Cancer Res. 1997;143:353-67. doi: 10.1007/978-3-642-60393-8_25. Recent Results Cancer Res. 1997. PMID: 8912432 Review. No abstract available.

4

Clinical and genetic heterogeneity in Meckel syndrome.

Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S, Meusburger H, Tenconi R, Barnicoat A, Winter R, Peltonen L. Paavola P, et al. Among authors: baumer a. Hum Genet. 1997 Nov;101(1):88-92. doi: 10.1007/s004390050592. Hum Genet. 1997. PMID: 9385376

5

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.

6

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.

Koolen DA, Sistermans EA, Nilessen W, Knight SJ, Regan R, Liu YT, Kooy RF, Rooms L, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, van Kessel AG, Nordenskjold M, de Vries BB. Koolen DA, et al. Among authors: baumer a. Eur J Hum Genet. 2008 Mar;16(3):395-400. doi: 10.1038/sj.ejhg.5201975. Epub 2008 Jan 9. Eur J Hum Genet. 2008. PMID: 18159213

7

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

Baumer A, Dutly F, Balmer D, Riegel M, Tükel T, Krajewska-Walasek M, Schinzel AA. Baumer A, et al. Hum Mol Genet. 1998 May;7(5):887-94. doi: 10.1093/hmg/7.5.887. Hum Mol Genet. 1998. PMID: 9536094 Free article.

8

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.

Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A. Riegel M, et al. Among authors: baumer a. Hum Genet. 2001 Sep;109(3):286-94. doi: 10.1007/s004390100585. Hum Genet. 2001. PMID: 11702209

9

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

10

Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24).

Gadzicki D, Baumer A, Wey E, Happel CM, Rudolph C, Tönnies H, Neitzel H, Steinemann D, Welte K, Klein C, Schlegelberger B. Gadzicki D, et al. Among authors: baumer a. Ann Hum Genet. 2006 Nov;70(Pt 6):958-64. doi: 10.1111/j.1469-1809.2006.00271.x. Ann Hum Genet. 2006. PMID: 17044870

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