Bartsch O - Search Results

1

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

2

Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21.

Petersen MB, Bartsch O, Adelsberger PA, Mikkelsen M, Schwinger E, Antonarakis SE. Petersen MB, et al. Among authors: bartsch o. Genomics. 1992 Jun;13(2):269-74. doi: 10.1016/0888-7543(92)90242-k. Genomics. 1992. PMID: 1351865

3

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

4

"Compensatory" uniparental disomy of chromosome 21 in two cases.

Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis SE, Mikkelsen M. Bartsch O, et al. J Med Genet. 1994 Jul;31(7):534-40. doi: 10.1136/jmg.31.7.534. J Med Genet. 1994. PMID: 7966190 Free PMC article.

5

Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome.

Bartsch O, König U, Petersen MB, Poulsen H, Mikkelsen M, Palau F, Prieto F, Schwinger E. Bartsch O, et al. Hum Genet. 1993 Sep;92(2):127-32. doi: 10.1007/BF00219679. Hum Genet. 1993. PMID: 8370577

6

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

7

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.

8

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

9

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

10

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

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