Utermann G - Search Results

1

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).

Spreiz A, Müller D, Zotter S, Albrecht U, Baumann M, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D. Spreiz A, et al. Among authors: utermann g. Am J Med Genet A. 2010 Nov;152A(11):2762-7. doi: 10.1002/ajmg.a.33699. Am J Med Genet A. 2010. PMID: 20954245

2

Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl.

Kotzot D, Haberlandt E, Fauth C, Baumgartner S, Scholl-Bürgi S, Utermann G. Kotzot D, et al. Among authors: utermann g. Am J Med Genet A. 2005 Jun 15;135(3):304-7. doi: 10.1002/ajmg.a.30727. Am J Med Genet A. 2005. PMID: 15887269 Review.

3

Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.

Kotzot D, Utermann G. Kotzot D, et al. Among authors: utermann g. Am J Med Genet A. 2005 Jul 30;136(3):287-305. doi: 10.1002/ajmg.a.30483. Am J Med Genet A. 2005. PMID: 15957160

4

Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman.

Höckner M, Utermann B, Erdel M, Fauth C, Utermann G, Kotzot D. Höckner M, et al. Among authors: utermann b, utermann g. Am J Med Genet A. 2008 Apr 1;146A(7):925-9. doi: 10.1002/ajmg.a.32251. Am J Med Genet A. 2008. PMID: 18302251

5

"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype.

Grossmann V, Müller D, Müller W, Fresser F, Erdel M, Janecke AR, Zschocke J, Utermann G, Kotzot D. Grossmann V, et al. Among authors: utermann g. Am J Med Genet A. 2009 Nov;149A(11):2522-6. doi: 10.1002/ajmg.a.33058. Am J Med Genet A. 2009. PMID: 19842202

6

Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.

Frühmesser A, Haberlandt E, Judmaier W, Schinzel A, Utermann B, Erdel M, Fauth C, Utermann G, Zschocke J, Kotzot D. Frühmesser A, et al. Among authors: utermann b, utermann g. Am J Med Genet A. 2012 Sep;158A(9):2239-44. doi: 10.1002/ajmg.a.35450. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821890

7

Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.

Frühmesser A, Erdel M, Duba HC, Fauth C, Amberger A, Utermann G, Zschocke J, Kotzot D. Frühmesser A, et al. Among authors: utermann g. Eur J Med Genet. 2013 Jul;56(7):383-8. doi: 10.1016/j.ejmg.2013.04.003. Epub 2013 Apr 19. Eur J Med Genet. 2013. PMID: 23608969

8

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: utermann g. Clin Genet. 2010 Dec;78(6):548-53. doi: 10.1111/j.1399-0004.2010.01419.x. Clin Genet. 2010. PMID: 20584030

9

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism.

Loeffler J, Soelder E, Erdel M, Utermann B, Janecke A, Duba HC, Utermann G. Loeffler J, et al. Among authors: utermann b, utermann g. Am J Med Genet A. 2003 Jan 30;116A(3):290-4. doi: 10.1002/ajmg.a.10902. Am J Med Genet A. 2003. PMID: 12503109 Review.

10

Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome.

Haberlandt E, Svejda C, Felber S, Baumgartner S, Günther B, Utermann G, Kotzot D. Haberlandt E, et al. Among authors: utermann g. Am J Med Genet A. 2006 Feb 1;140(3):281-3. doi: 10.1002/ajmg.a.31071. Am J Med Genet A. 2006. PMID: 16411202

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