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Results: 1-5 |
Results: 5
Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.
Authors: Petersen, Michael B. Schinzel, Albert A. Binkert, Franz Tranebjaerg, Lisbeth Mikkelsen, Margareta Collins, Felicity A. Economou, Effrosini P. Antonarakis, Stylianos E.
Citation: B. Petersen, Michael et al., Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome., American journal of human genetics , 48-I(1), 1991, pp. 65-71
Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal.
Authors: Petersen, Michael B. Adelsberger, Patricia A. Schinzel, Albert A. Binkert, Franz Hinkel, Georg K. Antonarakis, Stylianos E.
Citation: B. Petersen, Michael et al., Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal., American journal of human genetics , 49-I(3), 1991, pp. 529-536
The meiotic stage of nondisjunction in trisomy 21: Determination by using DNA polymorphisms
Authors: Antonarakis, Stylianos E. Petersen, Michael B. McInnis, Melvin G. Adelsberger, Patricia A. Schinzel, Albert A. Binkert, Franz Pangalos, Constantine Raoul, Odile Slaugenhaupt, Susan A. Hafez, Mohamed Cohen, Maimon M. Roulson, Diane Schwartz, Stuart Mikkelsen, Margareta Tranebjaerg, Lisbeth Greenberg, Frank Hoar, David I. Rudd, Noreen L. Warren, Andrew C. Metaxotou, Caterina Bartsocas, Christos Chakravarti, Aravinda
Citation: E. Antonarakis, Stylianos et al., The meiotic stage of nondisjunction in trisomy 21: Determination by using DNA polymorphisms, American journal of human genetics , 50-I(3), 1992, pp. 544-550
Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations.
Authors: Antonarakis, Stylianos E. Adelsberger, Patricia A. Petersen, Michael B. Binkert, Franz Schinzel, Albert A.
Citation: E. Antonarakis, Stylianos et al., Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations., American journal of human genetics , 47-II(6), 1990, pp. 968-972
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.
Authors: Mules, Emilie H. Dowling, Carol E. Petersen, Michael B. Kazazian, Haig H. Jr Thomas, George H.
Citation: H. Mules, Emilie et al., A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients., American journal of human genetics , 48-II(6), 1991, pp. 1181-1185
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