Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

Por Wang, M., Clericuzio, C. L., Godfrey, M.
Publicado em 1996

Prenatal diagnosis of Noonan's syndrome in a female infant with spontaneous resolution of cystic hygroma and hydrops.

Por Izquierdo, L., Kushnir, O., Sanchez, D., Curet, L., Olney, P., Sarto, G. E., Clericuzio, C., Olney, R.
Publicado em 1990

Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.

Por Kang, S, Allen, J, Graham, J M, Grebe, T, Clericuzio, C, Patronas, N, Ondrey, F, Green, E, Schäffer, A, Abbott, M, Biesecker, L G
Publicado em 1997

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.

Por Biesecker, L G, Kang, S, Schäffer, A A, Abbott, M, Kelley, R I, Allen, J C, Clericuzio, C, Grebe, T, Olney, A, Graham, J M
Publicado em 1996

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Por Doherty, D, Parisi, M A, Finn, L S, Gunay-Aygun, M, Al-Mateen, M, Bates, D, Clericuzio, C, Demir, H, Dorschner, M, van Essen, A J, Gahl, W A, Gentile, M, Gorden, N T, Hikida, A, Knutzen, D, Özyurek, H, Phelps, I, Rosenthal, P, Verloes, A, Weigand, H, Chance, P F, Dobyns, W B, Glass, I A
Publicado em 2009