Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.

Por Mäkitie, O
Publicado em 1992

Increased mortality in cartilage-hair hypoplasia

Por Makitie, O, Pukkala, E, Kaitila, I
Publicado em 2001

Cartilage-hair hypoplasia.

Por Mäkitie, O, Sulisalo, T, de la Chapelle, A, Kaitila, I
Publicado em 1995

Maternal vitamin D status affects bone growth in early childhood—a prospective cohort study

Por Viljakainen, H. T., Korhonen, T., Hytinantti, T., Laitinen, E. K. A., Andersson, S., Mäkitie, O., Lamberg-Allardt, C.
Publicado em 2010

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

Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

Por Ridanpaa, M, Ward, L, Rockas, S, Sarkioja, M, Makela, H, Susic, M, Glorieux, F, Cole, W, Makitie, O
Publicado em 2003

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

Por Kämpe, A. J., Costantini, A., Mäkitie, R. E., Jäntti, N., Valta, H., Mäyränpää, M., Kröger, H., Pekkinen, M., Taylan, F., Jiao, H., Mäkitie, O.
Publicado no Osteoporos Int (2017)

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)

Por Laine, C M, Chung, B D, Susic, M, Prescott, T, Semler, O, Fiskerstrand, T, D'Eufemia, P, Castori, M, Pekkinen, M, Sochett, E, Cole, W G, Netzer, C, Mäkitie, O
Publicado em 2011

Missense mutations in the ß strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Por Jackson, G, Barker, F, Jakkula, E, Czarny-Ratajczak, M, Makitie, O, Cole, W, Wright, M, Smithson, S, Suri, M, Rogala, P, Mortier, G, Baldock, C, Wallace, A, Elles, R, Ala-Kokko, L, Briggs, M
Publicado em 2004