Bartsch O - Search Results

1

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.

Behnecke A, Hinderhofer K, Bartsch O, Nümann A, Ipach ML, Damatova N, Haaf T, Dufke A, Riess O, Moog U. Behnecke A, et al. Among authors: bartsch o. Am J Med Genet A. 2011 Feb;155A(2):372-9. doi: 10.1002/ajmg.a.33656. Epub 2010 Oct 28. Am J Med Genet A. 2011. PMID: 21271657 Review.

2

Clinical diagnosis of partial duplication 7q.

Bartsch O, Kalbe U, Ngo TK, Lettau R, Schwinger E. Bartsch O, et al. Am J Med Genet. 1990 Oct;37(2):254-7. doi: 10.1002/ajmg.1320370218. Am J Med Genet. 1990. PMID: 2248294

3

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ. Bartsch O, et al. Am J Hum Genet. 1996 Apr;58(4):734-42. Am J Hum Genet. 1996. PMID: 8644736 Free PMC article.

4

Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.

Skrypnyk C, Goecke TO, Majewski F, Bartsch O. Skrypnyk C, et al. Among authors: bartsch o. Am J Med Genet. 2002 Nov 22;113(2):207-12. doi: 10.1002/ajmg.10764. Am J Med Genet. 2002. PMID: 12407714

5

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.

Horn D, Neitzel H, Tönnies H, Kalscheuer V, Kunze J, Hinkel GK, Bartsch O. Horn D, et al. Among authors: bartsch o. Am J Med Genet A. 2003 Mar 15;117A(3):236-44. doi: 10.1002/ajmg.a.10017. Am J Med Genet A. 2003. PMID: 12599186 Review.

6

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

Horn D, Tönnies H, Neitzel H, Wahl D, Hinkel GK, von Moers A, Bartsch O. Horn D, et al. Among authors: bartsch o. Am J Med Genet A. 2004 Jul 1;128A(1):85-92. doi: 10.1002/ajmg.a.30031. Am J Med Genet A. 2004. PMID: 15211664

7

Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.

Walter S, Sandig K, Hinkel GK, Mitulla B, Ounap K, Sims G, Sitska M, Utermann B, Viertel P, Kalscheuer V, Bartsch O. Walter S, et al. Among authors: bartsch o. Am J Med Genet A. 2004 Aug 1;128A(4):364-73. doi: 10.1002/ajmg.a.30160. Am J Med Genet A. 2004. PMID: 15264281

8

Two sisters with Silver-Russell phenotype.

Ounap K, Reimand T, Mägi ML, Bartsch O. Ounap K, et al. Among authors: bartsch o. Am J Med Genet A. 2004 Dec 15;131(3):301-6. doi: 10.1002/ajmg.a.30379. Am J Med Genet A. 2004. PMID: 15523618

9

Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies.

Ehling D, Kennerknecht I, Junge A, Prager B, Exeler R, Behre B, Horst J, Schmitt-John T, Bartsch O, Wirth J. Ehling D, et al. Among authors: bartsch o. Am J Med Genet A. 2004 Dec 15;131(3):265-72. doi: 10.1002/ajmg.a.30361. Am J Med Genet A. 2004. PMID: 15534873

10

Healthy 12-year-old boy with mosaic inv dup(15)(q13).

Loitzsch A, Bartsch O. Loitzsch A, et al. Among authors: bartsch o. Am J Med Genet A. 2006 Mar 15;140(6):640-3. doi: 10.1002/ajmg.a.31118. Am J Med Genet A. 2006. PMID: 16470686 No abstract available.

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