PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.

Autor: Hol, F A, Geurds, M P, Chatkupt, S, Shugart, Y Y, Balling, R, Schrander-Stumpel, C T, Johnson, W G, Hamel, B C, Mariman, E C

Publikováno v: Journal of Medical Genetics; Aug1996, Vol. 33 Issue 8, p655-660, 6p, 1 Black and White Photograph, 4 Diagrams, 3 Charts, 1 Graph

A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

Autor: Hol, F A, Hamel, B C, Geurds, M P, Mullaart, R A, Barr, F G, Macina, R A, Mariman, E C

Publikováno v: Journal of Medical Genetics; Jan1995, Vol. 32 Issue 1, p52-56, 5p, 2 Black and White Photographs, 3 Diagrams

Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family

Autor: Hol, F. A., Hamel, B. C. J., Geurds, M. P. A., Hansmann, I., Nabben, F. A. E., Daniëls, O., Mariman, E. C. M.

Publikováno v: Human Genetics; June 1995, Vol. 95 Issue: 6 p687-690, 4p