Röthlisberger B - Search Results

1

Microdeletion 19p13.2 in an almost 5-year-old boy.

Haberlandt E, Spreiz A, Sigl SB, Janetschek C, Röthlisberger B, Zotter S, Rostasy K, Zschocke J, Kotzot D. Haberlandt E, et al. Among authors: rothlisberger b. Am J Med Genet A. 2012 May;158A(5):1190-4. doi: 10.1002/ajmg.a.35291. Epub 2012 Apr 9. Am J Med Genet A. 2012. PMID: 22488779

2

Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis.

Grossmann V, Höckner M, Karmous-Benailly H, Liang D, Puttinger R, Quadrelli R, Röthlisberger B, Huber A, Wu L, Spreiz A, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D. Grossmann V, et al. Among authors: rothlisberger b. Clin Genet. 2010 Dec;78(6):548-53. doi: 10.1111/j.1399-0004.2010.01419.x. Clin Genet. 2010. PMID: 20584030

3

Recurrence risk in de novo structural chromosomal rearrangements.

Röthlisberger B, Kotzot D. Röthlisberger B, et al. Am J Med Genet A. 2007 Aug 1;143A(15):1708-14. doi: 10.1002/ajmg.a.31826. Am J Med Genet A. 2007. PMID: 17603796

4

Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13qter.

Kotzot D, Röthlisberger B, Riegel M, Schinzel A. Kotzot D, et al. Among authors: rothlisberger b. J Med Genet. 2001 Dec;38(12):876-81. doi: 10.1136/jmg.38.12.876. J Med Genet. 2001. PMID: 11768394 Free PMC article. No abstract available.

5

"Essentially pure" partial trisomy (6)(p23-->pter) in two brothers due to maternal t(6;17)(p23;p13.3).

Röthlisberger B, Kotzot D, Gnehm HE, Schinzel A. Röthlisberger B, et al. Am J Med Genet. 1999 Aug 6;85(4):389-94. Am J Med Genet. 1999. PMID: 10398266

6

Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child.

Röthlisberger B, Zerova T, Kotzot D, Buzhievskaya TI, Balmer D, Schinzel A. Röthlisberger B, et al. J Med Genet. 2001 Dec;38(12):885-8. doi: 10.1136/jmg.38.12.885. J Med Genet. 2001. PMID: 11768396 Free PMC article. No abstract available.

7

A new molecular approach to investigate origin and formation of structural chromosome aberrations.

Röthlisberger B, Schinzel A, Kotzot D. Röthlisberger B, et al. Chromosome Res. 2000;8(5):451-3. doi: 10.1023/a:1009239009599. Chromosome Res. 2000. PMID: 10997786 No abstract available.

8

Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes.

Röthlisberger B, Kotzot D, Brecevic L, Koehler M, Balmer D, Binkert F, Schinzel A. Röthlisberger B, et al. Eur J Hum Genet. 1999 Dec;7(8):873-83. doi: 10.1038/sj.ejhg.5200389. Eur J Hum Genet. 1999. PMID: 10602362

9

Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.

Filges I, Röthlisberger B, Boesch N, Weber P, Wenzel F, Huber AR, Heinimann K, Miny P. Filges I, et al. Among authors: rothlisberger b. Am J Med Genet A. 2010 Apr;152A(4):987-93. doi: 10.1002/ajmg.a.33330. Am J Med Genet A. 2010. PMID: 20358614

10

Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2.

Röthlisberger B, Hoigné I, Huber AR, Brunschwiler W, Capone Mori A. Röthlisberger B, et al. Am J Med Genet A. 2010 Feb;152A(2):434-7. doi: 10.1002/ajmg.a.33220. Am J Med Genet A. 2010. PMID: 20101691

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