Increased mortality in cartilage-hair hypoplasia

gan Makitie, O, Pukkala, E, Kaitila, I
Cyhoeddwyd 2001

Cartilage-hair hypoplasia.

gan Mäkitie, O, Sulisalo, T, de la Chapelle, A, Kaitila, I
Cyhoeddwyd 1995

Diastrophic dysplasia gene maps to the distal long arm of chromosome 5.

gan Hästbacka, J, Kaitila, I, Sistonen, P, de la Chapelle, A
Cyhoeddwyd 1990

Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation.

gan Rantamäki, T, Kaitila, I, Syvänen, A C, Lukka, M, Peltonen, L
Cyhoeddwyd 1999

Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.

gan Kuivaniemi, H, Peltonen, L, Palotie, A, Kaitila, I, Kivirikko, K I
Cyhoeddwyd 1982

Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions

gan Korkko, J, Kaitila, I, Lonnqvist, L, Peltonen, L, Ala-Kokko, L
Cyhoeddwyd 2002

Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia.

gan Elima, K, Kaitila, I, Mikonoja, L, Elonsalo, U, Peltonen, L, Vuorio, E
Cyhoeddwyd 1989

Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.

gan Hästbacka, J, Salonen, R, Laurila, P, de la Chapelle, A, Kaitila, I
Cyhoeddwyd 1993

Fetal membrane collagens: identification of two new collagen alpha chains.

gan Burgeson, R E, El Adli, F A, Kaitila, I I, Hollister, D W
Cyhoeddwyd 1976

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

gan Kuijpers, T, Ridanpaa, M, Peters, M, de Boer, I, Vossen, J, Pals, S, Kaitila, I, Hennekam, R
Cyhoeddwyd 2003

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

gan Sulisalo, T., Klockars, J., Mäkitie, O., Francomano, C. A., de la Chapelle, A., Kaitila, I., Sistonen, P.
Cyhoeddwyd 1994

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.

gan Kainulainen, K, Sakai, L Y, Child, A, Pope, F M, Puhakka, L, Ryhänen, L, Palotie, A, Kaitila, I, Peltonen, L
Cyhoeddwyd 1992

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

gan 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
Cyhoeddwyd 1995

Data from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I

gan Dickson, P.I., Kaitila, I., Harmatz, P., Mlikotic, A., Chen, A.H., Victoroff, A., Passage, M.B., Madden, J., Le, S.Q., Naylor, D.E.
Cyhoeddwyd yn Data Brief (2015)

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

gan 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
Cyhoeddwyd 1998

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

gan 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
Cyhoeddwyd 1998