Bartsch O - Search Results

1

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

2

"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.

3

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

4

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

5

A simplified protocol for fluorescence in situ hybridization with repetitive DNA probes and its use in clinical cytogenetics.

Bartsch O, Schwinger E. Bartsch O, et al. Clin Genet. 1991 Jul;40(1):47-56. doi: 10.1111/j.1399-0004.1991.tb03067.x. Clin Genet. 1991. PMID: 1884517

6

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

7

[Atypical cat eye syndrome. Fluorescence in situ hybridization of metaphase chromosomes].

Bartsch O, Aksu F, Fenner A, Schwinger E. Bartsch O, et al. Monatsschr Kinderheilkd. 1992 Aug;140(8):460-3. Monatsschr Kinderheilkd. 1992. PMID: 1359403 German.

8

[Bilateral colobomatous microphthalmus with orbital giant cysts in incomplete tetrasomy 22].

Lange W, Rochels R, Otte J, Schwinger E, Bartsch O. Lange W, et al. Among authors: bartsch o. Klin Monbl Augenheilkd. 1992 Jun;200(6):671-3. doi: 10.1055/s-2008-1045855. Klin Monbl Augenheilkd. 1992. PMID: 1507792 German.

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

Severe complications and gastric carcinoma in Mulvihill-Smith syndrome.

Bartsch O, Ludwig D, Schwinger E, Tympner KD. Bartsch O, et al. J Med Genet. 1999 Feb;36(2):175. J Med Genet. 1999. PMID: 10051025 Free PMC article. No abstract available.

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