Utermann B - Search Results

1

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.

Spreiz A, Guilherme RS, Castellan C, Green A, Rittinger O, Wellek B, Utermann B, Erdel M, Fauth C, Haberlandt E, Kim CA, Kulikowski LD, Meloni VA, Utermann G, Zschocke J, Melaragno MI, Kotzot D. Spreiz A, et al. Among authors: utermann b. J Pediatr. 2013 Oct;163(4):1174-8.e3. doi: 10.1016/j.jpeds.2013.06.005. Epub 2013 Jul 19. J Pediatr. 2013. PMID: 23876976

2

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. 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

3

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. 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.

4

Pre- and postnatal findings in trisomy 17 mosaicism.

Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L, Fauth C, Baldinger R, Johnson J, Erdel M, Taralczak M, Pauli RM, Baumer A, Schinzel A, Kotzot D. Utermann B, et al. Am J Med Genet A. 2006 Aug 1;140(15):1628-36. doi: 10.1002/ajmg.a.31319. Am J Med Genet A. 2006. PMID: 16802327

5

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. 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

6

Trisomy 18 mosaicism in an adult woman with normal intelligence and history of miscarriage.

Gersdorf E, Utermann B, Utermann G. Gersdorf E, et al. Among authors: utermann b, utermann g. Hum Genet. 1990 Feb;84(3):298-9. doi: 10.1007/BF00200581. Hum Genet. 1990. PMID: 2303251

7

Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.

Duba HC, Erdel M, Löffler J, Bereuther L, Fischer H, Utermann B, Utermann G. Duba HC, et al. Among authors: utermann b, utermann g. J Med Genet. 1997 Apr;34(4):309-13. doi: 10.1136/jmg.34.4.309. J Med Genet. 1997. PMID: 9138155 Free PMC article.

8

Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype.

Erdel M, Duba HC, Verdorfer I, Lingenhel A, Geiger R, Gutenberger KH, Ludescher E, Utermann B, Utermann G. Erdel M, et al. Among authors: utermann b, utermann g. Hum Genet. 1997 May;99(5):596-601. doi: 10.1007/s004390050412. Hum Genet. 1997. PMID: 9150724

9

Joubert-like syndrome unlinked to known candidate loci.

Janecke AR, Müller T, Gassner I, Kreczy A, Schmid E, Kronenberg F, Utermann B, Utermann G. Janecke AR, et al. Among authors: utermann b. J Pediatr. 2004 Feb;144(2):264-9. doi: 10.1016/j.jpeds.2003.11.010. J Pediatr. 2004. PMID: 14760273

10

Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).

Erdel M, Schuffenhauer S, Buchholz B, Barth-Witte U, Köchl S, Utermann B, Duba HC, Utermann G. Erdel M, et al. Among authors: utermann b, utermann g. Hum Genet. 1996 Jun;97(6):784-93. doi: 10.1007/BF02346190. Hum Genet. 1996. PMID: 8641697

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