Petersen MB - Search Results

1

A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21.

Lorda-Sanchez I, Petersen MB, Binkert F, Maechler M, Schmid W, Adelsberger PA, Antonarakis SE, Schinzel A. Lorda-Sanchez I, et al. Among authors: petersen mb. Hum Genet. 1991 May;87(1):54-6. doi: 10.1007/BF01213092. Hum Genet. 1991. PMID: 1674717

2

The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms.

Antonarakis SE, Petersen MB, McInnis MG, Adelsberger PA, Schinzel AA, Binkert F, Pangalos C, Raoul O, Slaugenhaupt SA, Hafez M, et al. Antonarakis SE, et al. Among authors: petersen mb. Am J Hum Genet. 1992 Mar;50(3):544-50. Am J Hum Genet. 1992. PMID: 1347192 Free PMC article.

3

DNA polymorphism analysis in families with recurrence of free trisomy 21.

Pangalos CG, Talbot CC Jr, Lewis JG, Adelsberger PA, Petersen MB, Serre JL, Rethoré MO, de Blois MC, Parent P, Schinzel AA, et al. Pangalos CG, et al. Among authors: petersen mb. Am J Hum Genet. 1992 Nov;51(5):1015-27. Am J Hum Genet. 1992. PMID: 1415248 Free PMC article.

4

Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.

Petersen MB, Schinzel AA, Binkert F, Tranebjaerg L, Mikkelsen M, Collins FA, Economou EP, Antonarakis SE. Petersen MB, et al. Am J Hum Genet. 1991 Jan;48(1):65-71. Am J Hum Genet. 1991. PMID: 1824668 Free PMC article.

5

Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal.

Petersen MB, Adelsberger PA, Schinzel AA, Binkert F, Hinkel GK, Antonarakis SE. Petersen MB, et al. Am J Hum Genet. 1991 Sep;49(3):529-36. Am J Hum Genet. 1991. PMID: 1831959 Free PMC article.

6

Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations.

Antonarakis SE, Adelsberger PA, Petersen MB, Binkert F, Schinzel AA. Antonarakis SE, et al. Among authors: petersen mb. Am J Hum Genet. 1990 Dec;47(6):968-72. Am J Hum Genet. 1990. PMID: 1978562 Free PMC article.

7

"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. Among authors: petersen mb. 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.

8

Paternal nondisjunction in trisomy 21: excess of male patients.

Petersen MB, Antonarakis SE, Hassold TJ, Freeman SB, Sherman SL, Avramopoulos D, Mikkelsen M. Petersen MB, et al. Hum Mol Genet. 1993 Oct;2(10):1691-5. doi: 10.1093/hmg/2.10.1691. Hum Mol Genet. 1993. PMID: 8268923

9

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. Among authors: petersen mb. Hum Genet. 1997 Oct;100(5-6):669-75. doi: 10.1007/s004390050571. Hum Genet. 1997. PMID: 9341890

10

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. Genomics. 1992 Jun;13(2):269-74. doi: 10.1016/0888-7543(92)90242-k. Genomics. 1992. PMID: 1351865

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