140 Publications (Page 6 of 6)
1991
Dietz, H.C., Cutting, G.R., Pyeritz, R.E., Maslen, C.L., Sakai, L.Y., Corson, G.M., Puffenberger, E.G., Hamosh, A., Nanthakumar, E.J., Curristin, S.M., Stetten, G., Meyers, D.A., and Francomano, C.A. Marfan syndrome caused by a recurrent de novo missensemutation in the fibrillin gene. Nature 352:337-339, 1991
Francomano, Clair A
1991
 
Dietz, H.C., Pyeritz, R.E., Hall, B.D., Cadle, R.G., Hamosh, A., Schwartz, J., Meyers, D.A., and Francomano, C.A. The Marfan syndrome locus: Confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3, Genomics9:355-361, 1991
Francomano, Clair A
1991
 
Finkelstein, J.E., Doege, K., Yamada, Y., Pyeritz, R.E., Graham, J.M., Jr., Moeschler, J.B., Pauli, R.M., Hecht, J.T., and Francomano, C.A. Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia. Am. J. Human. Genet. 48:97-102, 1991
Francomano, Clair A
1991
 
Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.
Kainulainen, K⋅Steinmann, B⋅Collins, F⋅Dietz, Harry H⋅Francomano, Clair A⋅Child, A⋅Kilpatrick, M W⋅Brock, D J⋅Keston, M and Pyeritz, R E
American journal of human genetics, vol. 49, (no. 3), pp. 662-7, 1991/Sep. | Journal Article
 
PCR-based detection of polymorphic DdeI and KpnI sites in intron 5 of the adenylate kinase (AK1) gene
Puffenberger, EG and Francomano, Clair A
Nucleic Acids Research, vol. 19, (no. 5), pp. 1161-1161, 1991. | Journal Article
 
The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q.
Francomano, Clair A⋅Cutting, Garry R⋅McCormick, MK⋅Chu, Mon L⋅Timpl, R.⋅Hong, Hee K and Antonarakis, SE
Human Genetics, vol. 87, (no. 2), pp. 162-166, 1991. | Journal Article
 
The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.
Dietz, Harry H⋅Pyeritz, R E⋅Hall, B D⋅Cadle, R G⋅Hamosh, Ada⋅Schwartz, Joseph M⋅Meyers, D A and Francomano, Clair A
Genomics, vol. 9, (no. 2), pp. 355-61, 1991/Feb. | Journal Article
1990
An exclusion map of Marfan syndrome.
Blanton, Susan⋅Sarfarazi, Mansoor⋅Eiberg, H⋅de Groote, J⋅Farndon, P A⋅Kilpatrick, M W⋅Child, A H⋅Pope, F M⋅Peltonen, L and Francomano, Clair A
Journal of medical genetics, vol. 27, (no. 2), pp. 73-7, 1990/Feb. | Journal Article
 
Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.
Finkelstein, Janice E⋅Francomano, Clair A⋅Brusilow, Saul W and Traystman, M D
Genomics, vol. 7, (no. 2), pp. 167-72, 1990/Jun. | Journal Article
1988
Achondropiasia is not caused by mutation in the gene for type II collagen
Francomano, Clair A⋅Pyeritz, Reed E⋅Optiz, John M and Reynolds, James F
American Journal of Medical Genetics, vol. 29, (no. 4), pp. 961, April 1988. | Journal Article
 
Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34.
Cutting, Garry R⋅Kazazian, H H⋅Antonarakis, S E⋅Killen, P D⋅Yamada, Yoshihiko and Francomano, Clair A
Genomics, vol. 3, (no. 3), pp. 256-63, 1988/Oct. | Journal Article
 
Marfan Syndrome: Exclusion of genetic linkage to three major collagen genes
Francomano, Clair A⋅Streeten, Elizabeth A⋅Meyers, Deborah A⋅Pyeritz, Reed E⋅Optiz, John M and Reynolds, James F
American Journal of Medical Genetics, vol. 29, (no. 2), pp. 462, February 1988. | Journal Article
 
Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria
Bartholomew, Dennis W⋅Bartholomew, D W⋅Batshaw, Mark L⋅Batshaw, M L⋅Allen, Robert H⋅Allen, Robert H⋅Roe, Charles R⋅Roe, C R⋅Rosenblatt, D⋅Rosenblatt, David⋅Valle, D L⋅Valle, David L⋅Francomano, C A and Francomano, Clair A
The Journal of Pediatrics, vol. 112, (no. 1), pp. 39, 1988. | Journal Article
1987
Partial structure of the human alpha 2(IV) collagen chain and chromosomal localization of the gene (COL4A2).
Killen, P D⋅Francomano, Clair A⋅Yamada, Yoshihiko⋅Modi, W S and O'Brien, S J
Human genetics, vol. 77, (no. 4), pp. 318-24, 1987/Dec. | Journal Article
1985
Isolation and partial characterization of genomic clones coding for a human pro-alpha 1 (II) collagen chain and demonstration of restriction fragment length polymorphism at the 3' end of the gene.
Nunez, A M⋅Francomano, Clair A⋅Young, M F⋅Martin, G R and Yamada, Yoshihiko
Biochemistry, vol. 24, (no. 23), pp. 6343-8, 1985/Nov/5. | Journal Article