Bibliotecas PUC-SP - Busca Integrada

Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations

por PANAS, M., KARADIMAS, C., AVRAMOPOULOS, D., VASSILOPOULOS, D.
Publicado 1998

Normal phenotype with paternal uniparental isodisomy for chromosome 21.

por Blouin, J L, Avramopoulos, D, Pangalos, C, Antonarakis, S E
Publicado 1993

Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.

por Antonarakis, S E, Blouin, J L, Maher, J, Avramopoulos, D, Thomas, G, Talbot, C C
Publicado 1993

Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31.

por Avramopoulos, D, Kitsos, G, Economou-Petersen, E, Grigoriadou, M, Vassilopoulos, D, Papageorgiou, C, Psilas, K, Petersen, M B
Publicado 1996

A case of apparent trisomy 21 without the Down's syndrome phenotype.

por Avramopoulos, D, Kennerknecht, I, Barbi, G, Eckert, D, Delabar, J M, Maunoury, C, Hallberg, A, Petersen, M B
Publicado 1997

Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis.

por Pangalos, C., Avramopoulos, D., Blouin, J. L., Raoul, O., deBlois, M. C., Prieur, M., Schinzel, A. A., Gika, M., Abazis, D., Antonarakis, S. E.
Publicado 1994