G. Jackson

发表

Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

O. Mäkitie, W. Cole, R. Wagener, 2005, Human mutation.

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution

G. Mortier, A. Offiah, Jacqueline A Taylor, 2011, Human mutation.

Novel mutations in exon 2 of MATN3 affect residues within the α–helices of the A‐domain and can result in the intracellular retention of mutant matrilin‐3

J. Loughlin, M. Briggs, M. Fresquet, 2008, Human mutation.

Novel and recurrent mutations in the C‐terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia – multiple epiphyseal dysplasia disease group

G. Mortier, J. Bella, M. Wright, 2005, Human mutation.

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004, American journal of medical genetics. Part A.

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

O. Mäkitie, L. Ala‐Kokko, W. Cole, 2005, European Journal of Human Genetics.

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

Jacqueline A Taylor, A. Verrips, M. Briggs, 2010, American journal of medical genetics. Part A.

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

G. Mortier, A. Zankl, B. Zabel, 2007, European Journal of Human Genetics.

Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family

N. Şatıroğlu-Tufan, C. N. Semerci, A. Tufan, 2007, European Journal of Human Genetics.

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

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004, Journal of Medical Genetics.

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

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004 .

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

W. Newman, M. Wright, S. Ramsden, 2005, European Journal of Human Genetics.