Bartsch O - Search Results

1

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.

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

DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor.

Schuffenhauer S, Bartsch O, Stumm M, Buchholz T, Petropoulou T, Kraft S, Belohradsky B, Hinkel GK, Meitinger T, Wegner RD. Schuffenhauer S, et al. Among authors: bartsch o. Hum Genet. 1995 Nov;96(5):562-71. doi: 10.1007/BF00197412. Hum Genet. 1995. PMID: 8530004

4

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.

5

A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.

Werner W, Kraft S, Callen DF, Bartsch O, Hinkel GK. Werner W, et al. Among authors: bartsch o. Am J Med Genet. 1997 Jun 27;70(4):371-6. Am J Med Genet. 1997. PMID: 9182777

6

Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34.

Bartsch O, Kuhnle U, Wu LL, Schwinger E, Hinkel GK. Bartsch O, et al. Am J Med Genet. 1996 Oct 28;65(3):218-21. doi: 10.1002/(SICI)1096-8628(19961028)65:3<218::AID-AJMG9>3.0.CO;2-L. Am J Med Genet. 1996. PMID: 9240747

7

A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region.

Bartsch O, Hinkel GK, Petersen MB, König U, Bugge M, Mikkelsen M, Avramopoulos D, Morris M, Antonarakis SE. Bartsch O, et al. Hum Genet. 1997 Oct;100(5-6):669-75. doi: 10.1007/s004390050571. Hum Genet. 1997. PMID: 9341890

8

Deletion mapping by FISH with BACs in patients with partial monosomy 22q13.

Schröder K, Schuffenhauer S, Seidel H, Bartsch O, Blin N, Hinkel GK, Schmitt H. Schröder K, et al. Among authors: bartsch o. Hum Genet. 1998 May;102(5):557-61. doi: 10.1007/s004390050739. Hum Genet. 1998. PMID: 9654204

9

Familial Williams-Beuren syndrome.

Ounap K, Laidre P, Bartsch O, Rein R, Lipping-Sitska M. Ounap K, et al. Among authors: bartsch o. Am J Med Genet. 1998 Dec 28;80(5):491-3. doi: 10.1002/(sici)1096-8628(19981228)80:5<491::aid-ajmg10>3.0.co;2-j. Am J Med Genet. 1998. PMID: 9880214

10

No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585.

Bartsch O, Wagner A, Hinkel GK, Lichtner P, Murken J, Schuffenhauer S. Bartsch O, et al. Am J Med Genet. 1999 Apr 23;83(5):425-6. doi: 10.1002/(sici)1096-8628(19990423)83:5<425::aid-ajmg17>3.0.co;2-q. Am J Med Genet. 1999. PMID: 10232757 No abstract available.

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