R. Colliton

Jagged1 mutations in Alagille syndrome

I. Krantz, N. Spinner, M. Hadchouel, 2001, Human mutation.

Jagged1 mutations in patients ascertained with isolated congenital heart defects.

E. Zackai, I. Krantz, N. Spinner, 1999, American journal of medical genetics.

Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients

I. Krantz, N. Spinner, D. Piccoli, 2001, Human mutation.

Craniosynostosis in Alagille syndrome.

I. Krantz, N. Spinner, C. Stolle, 2002, American journal of medical genetics.

Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.

N. Spinner, R. Colliton, J. Morrissette, 2001, Human molecular genetics.

Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population

N. Spinner, G. Anderson, J. MacMillan, 2000, Human mutation.

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

I. Krantz, N. Spinner, D. Piccoli, 1998, American journal of human genetics.

Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring

E. Zackai, N. Spinner, S. Saitta, 2008, American journal of medical genetics. Part A.