Lygia Pereira

The fibrillin‐marfan syndrome connection

F. Ramirez, Brendan H Lee, Lygia Pereira, 1993, BioEssays : news and reviews in molecular, cellular and developmental biology.

Primary Structure and Developmental Expression of Fbn-1, the Mouse Fibrillin Gene (*)

E. Smiley, J. Germiller, F. Ramirez, 1995, The Journal of Biological Chemistry.

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1.

H. Dietz, S. Shapiro, L. Sakai, 1999, Proceedings of the National Academy of Sciences of the United States of America.

A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.

H. Dietz, R. Pyeritz, B. Sykes, 1994, The New England journal of medicine.

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

B. Sykes, J. Bonadio, M. D’Alessio, 1993, Human molecular genetics.

Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4.

D. Adler, C. Disteche, R. Desnick, 1991, Genomics.

Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1).

R. Desnick, O. Levran, E. Schuchman, 1992, Genomics.

The fibrillins.

F. Ramirez, L. Pereira, Lygia Pereira, 1999, The international journal of biochemistry & cell biology.

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

R E Pyeritz, H. Dietz, R. Pyeritz, 1995, American journal of human genetics.