PCR-based detection of polymorphic DdeI and KpnI sites in intron 5 of the adenylate kinase (AK1) gene

Por Puffenberger, E.G., Francomano, C.A.
Publicado em 1991

Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

Por Schwindinger, W F, Francomano, C A, Levine, M A
Publicado em 1992

Mortality in achondroplasia.

Por Hecht, J T, Francomano, C A, Horton, W A, Annegers, J F
Publicado em 1987

High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.

Por Sulisalo, T., Klockars, J., Mäkitie, O., Francomano, C. A., de la Chapelle, A., Kaitila, I., Sistonen, P.
Publicado em 1994

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.

Por Montgomery, R A, Geraghty, M T, Bull, E, Gelb, B D, Johnson, M, McIntosh, I, Francomano, C A, Dietz, H C
Publicado em 1998

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

Por Nijbroek, G, Sood, S, McIntosh, I, Francomano, C A, Bull, E, Pereira, L, Ramirez, F, Pyeritz, R E, Dietz, H C
Publicado em 1995

Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.

Por Finkelstein, J E, Doege, K, Yamada, Y, Pyeritz, R E, Graham, J M, Moeschler, J B, Pauli, R M, Hecht, J T, Francomano, C A
Publicado em 1991

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Por Bellus, G A, Hefferon, T W, Ortiz de Luna, R I, Hecht, J T, Horton, W A, Machado, M, Kaitila, I, McIntosh, I, Francomano, C A
Publicado em 1995

An exclusion map of Marfan syndrome.

Por Blanton, S H, Sarfarazi, M, Eiberg, H, de Groote, J, Farndon, P A, Kilpatrick, M W, Child, A H, Pope, F M, Peltonen, L, Francomano, C A
Publicado em 1990

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

Por Dietz, H C, Pyeritz, R E, Puffenberger, E G, Kendzior, R J, Corson, G M, Maslen, C L, Sakai, L Y, Francomano, C A, Cutting, G R
Publicado em 1992

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.

Por Wilkin, D J, Szabo, J K, Cameron, R, Henderson, S, Bellus, G A, Mack, M L, Kaitila, I, Loughlin, J, Munnich, A, Sykes, B, Bonaventure, J, Francomano, C A
Publicado em 1998

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

Por McIntosh, I, Dreyer, S D, Clough, M V, Dunston, J A, Eyaid, W, Roig, C M, Montgomery, T, Ala-Mello, S, Kaitila, I, Winterpacht, A, Zabel, B, Frydman, M, Cole, W G, Francomano, C A, Lee, B
Publicado em 1998

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

Por Tavormina, P L, Bellus, G A, Webster, M K, Bamshad, M J, Fraley, A E, McIntosh, I, Szabo, J, Jiang, W, Jabs, E W, Wilcox, W R, Wasmuth, J J, Donoghue, D J, Thompson, L M, Francomano, C A
Publicado em 1999

Fine mapping of the nail-patella syndrome locus at 9q34.

Por McIntosh, I, Clough, M V, Schäffer, A A, Puffenberger, E G, Horton, V K, Peters, K, Abbott, M H, Roig, C M, Cutone, S, Ozelius, L, Kwiatkowski, D J, Pyeritz, R E, Brown, L J, Pauli, R M, McCormick, M K, Francomano, C A
Publicado em 1997

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

Por Muenke, M., Gripp, K. W., McDonald-McGinn, D. M., Gaudenz, K., Whitaker, L. A., Bartlett, S. P., Markowitz, R. I., Robin, N. H., Nwokoro, N., Mulvihill, J. J., Losken, H. W., Mulliken, J. B., Guttmacher, A. E., Wilroy, R. S., Clarke, L. A., Hollway, G., Adès, L. C., Haan, E. A., Mulley, J. C., Cohen, M. M., Bellus, G. A., Francomano, C. A., Moloney, D. M., Wall, S. A., Wilkie, A. O. M., Zackai, E. H.
Publicado em 1997