Volleth M - Search Results

1

Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.

Schulz S, Gerloff C, Ledig S, Langer D, Volleth M, Shirneshan K, Wieacker P. Schulz S, et al. Among authors: volleth m. Prenat Diagn. 2008 Jan;28(1):42-5. doi: 10.1002/pd.1904. Prenat Diagn. 2008. PMID: 18186147

2

WNT4 and RSPO1 are not involved in a case of male-to-female sex reversal with partial duplication of 1p.

Wieacker P, Volleth M. Wieacker P, et al. Among authors: volleth m. Sex Dev. 2007;1(2):111-3. doi: 10.1159/000100032. Sex Dev. 2007. PMID: 18391521

3

Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.

Jakubiczka S, Schröder C, Ullmann R, Volleth M, Ledig S, Gilberg E, Kroisel P, Wieacker P. Jakubiczka S, et al. Among authors: volleth m. Sex Dev. 2010;4(3):143-9. doi: 10.1159/000302403. Epub 2010 May 4. Sex Dev. 2010. PMID: 20453475

4

Familial translocation t(1;9) associated with macromastia: molecular cloning of the breakpoints.

Wieacker P, Apeshiotis N, Jakubiczka S, Volleth M, Wieland I. Wieacker P, et al. Among authors: volleth m. Sex Dev. 2007;1(1):35-41. doi: 10.1159/000096237. Sex Dev. 2007. PMID: 18391514

5

Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14.

Volleth M, Stumm M, Bürger J, Muschke P, Wieacker P. Volleth M, et al. Cytogenet Genome Res. 2005;108(4):283-6. doi: 10.1159/000081521. Cytogenet Genome Res. 2005. PMID: 15627746

6

Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with mental retardation and dysmorphy.

Volleth M, Stumm M, Mohnike K, Kalscheuer VM, Jakubiczka S, Wieacker P. Volleth M, et al. Hum Hered. 2001;52(3):177-82. doi: 10.1159/000053374. Hum Hered. 2001. PMID: 11588402

7

Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia.

Wieland I, Muschke P, Jakubiczka S, Volleth M, Freigang B, Wieacker PF. Wieland I, et al. Among authors: volleth m. J Med Genet. 2004 May;41(5):e54. doi: 10.1136/jmg.2003.010587. J Med Genet. 2004. PMID: 15121782 Free PMC article. No abstract available.

8

Partial trisomy 9p12p21.3 with a normal phenotype.

Stumm M, Müsebeck J, Tönnies H, Volleth M, Lemke J, Chudoba I, Wieacker P. Stumm M, et al. Among authors: volleth m. J Med Genet. 2002 Feb;39(2):141-4. doi: 10.1136/jmg.39.2.141. J Med Genet. 2002. PMID: 11836367 Free PMC article. No abstract available.

9

Five novel locations of Neocentromeres in human: 18q22.1, Xq27.1∼27.2, Acro p13, Acro p12, and heterochromatin of unknown origin.

Klein E, Rocchi M, Ovens-Raeder A, Kosyakova N, Weise A, Ziegler M, Meins M, Morlot S, Fischer W, Volleth M, Polityko A, Ogilvie CM, Kraus C, Liehr T. Klein E, et al. Among authors: volleth m. Cytogenet Genome Res. 2012;136(3):163-6. doi: 10.1159/000336648. Epub 2012 Mar 1. Cytogenet Genome Res. 2012. PMID: 22377933

10

Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes.

Weise A, Starke H, Heller A, Tönnies H, Volleth M, Stumm M, Gabriele S, Nietzel A, Claussen U, Liehr T. Weise A, et al. Among authors: volleth m. J Med Genet. 2002 Jun;39(6):434-9. doi: 10.1136/jmg.39.6.434. J Med Genet. 2002. PMID: 12070255 Free PMC article. No abstract available.

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