A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.

Zweers, M.C.
Dean, W.B.
Kuppevelt, A.H.M.S.M. van
Bristow, J.
Schalkwijk, J.

January 2005

Contains fulltext : 47314schalkwijk.pdf (publisher's version ) (Closed access)Ehle...

Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

김현우

January 2011

Multiple epiphyseal dysplasia (MED) is a genetically heterogeneous group of diseases characterized b...

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.

Jackson, G.C.
Mittaz-Crettol, L.
Taylor, J.A.
Mortier, G.R.
Spranger, J.
Zabel, B.
Le Merrer, M.
Cormier-Daire, V.
Hall, C.M.
Offiah, A.
Wright, M.J.
Savarirayan, R.
Nishimura, G.
Ramsden, S.C.
Elles, R.
Bonafe, L.
Superti-Furga, A.
Unger, S.
Zankl, A.
Briggs, M.D.

January 2012

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal ...

A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2)

Muragaki, Y.
Mariman, E.C.M.
Beersum, S.E.C. van
Perälä, M.
Mourik, J.B.A. van
Warman, M.L.
Hamel, B.C.J.
Olsen, B.R.

January 1996

Contains fulltext : 23752___.PDF (publisher's version ) (Open Access

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

Jackson, G.C.
Marcus-Soekarman, D.
Stolte-Dijkstra, I.
Verrips, A.
Taylor, J.A.
Briggs, M.D.

January 2010

Item does not contain fulltextMultiple epiphyseal dysplasia (MED) is a clinically variable and genet...

COL9A3: A Third Locus for Multiple Epiphyseal Dysplasia

Paassilta, Petteri
Lohiniva, Jaana
Annunen, Susanna
Bonaventure, Jacky
Le Merrer, Martine
Pai, Lori
Ala-Kokko, Leena

April 1999

SummaryMultiple epiphyseal dysplasia (MED), an autosomal dominant osteochondrodysplasia, is a clinic...

Type IX Collagen Gene Mutations Can Result in Multiple Epiphyseal Dysplasia That Is Associated With Osteochondritis Dissecans and a Mild Myopathy

Jackson, Gail C.
Marcus-Soekarman, Dominique
Stolte-Dijkstra, Irene
Verrips, Aad
Taylor, Jacqueline A.
Briggs, Michael D.

April 2010

Multiple epiphyseal dysplasia (MED) is a clinically variable and genetically heterogeneous disease t...

Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia

Holden, Paul
Canty, Elizabeth G.
Mortier, Geert R.
Zabel, Bernhard
Spranger, Jurgen
Carr, Andrew
Grant, Michael E.
Loughlin, John A.
Briggs, Michael D.

July 1999

SummaryMultiple epiphyseal dysplasia (MED) is a genetically heterogeneous disorder with marked clini...

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.

Briggs, MD
Choi, H
Warman, ML
Loughlin, JA
Wordsworth, P
Sykes, BC
Irven, CM
Smith, M
Wynne-Davies, R
Lipson, MH

October 1994

Multiple epiphyseal dysplasia (MED) is a dominantly inherited chondrodysplasia characterized by mild...

A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity

Czarny-Ratajczak, Malwina
Lohiniva, Jaana
Rogala, Piotr
Kozlowski, Kazimierz
Perälä, Merja
Carter, Liisa
Spector, Tim D.
Kolodziej, Lukasz
Seppänen, Ulpu
Glazar, Renata
Królewski, Jan
Latos-Bielenska, Anna
Ala-Kokko, Leena

November 2001

Multiple epiphyseal dysplasia (MED) is an autosomal dominantly inherited chondrodysplasia. It is cli...

The Identification and Characterization of Chondrodysplasias Resulting from Cartilage Extracellular Matrix Abnormalities

Balasubramanian, Karthika

January 2017

The chondrodysplasias are a group of genetic disorders resulting from profound defects in cartilage ...

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

Zou, Y.
Zwolanek, D.
Izu, Y.
Gandhy, S.
Schreiber, G.
Brockmann, K.
Devoto, M.
Tian, Z.
Hu, Y.
Veit, G.
Meier, M.
Stetefeld, J.
Hicks, D.
Straub, V.
Voermans, N.C.
Birk, D.E.
Barton, E.R.
Koch, M.
Bonnemann, C.G.

January 2014

Contains fulltext : 136666.pdf (publisher's version ) (Closed access)Collagen VI-r...

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

Chapman, Kathryn L
Mortier, Geert
Chapman, Kay
Loughlin, John
Grant, Michael E
Briggs, Michael D

January 2001

Multiple epiphyseal dysplasia (MED) is a relatively mild and clinically variable osteochondrodysplas...

Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical description of three patients homozygous for a missense mutation in the COL11A2 gene

Steensel, M.A.M. van
Buma, P.
Waal Malefijt, M.C. de
Hoogen, F.H.J. van den
Brunner, H.G.

January 1997

Contains fulltext : 24596___.PDF (publisher's version ) (Open Access

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

Jackson, G.C.
Mittaz-Crettol, L.
Taylor, J.A.
Mortier, G.R.
Spranger, J.
Zabel, B.
Le Merrer, M.
Cormier-Daire, V.
Hall, C.M.
Offiah, A.
Wright, M.J.
Savarirayan, R.
Nishimura, G.
Ramsden, S.C.
Elles, R.
Bonafe, L.
Superti-Furga, A.
Unger, S.
Zankl, A.
Briggs, M.D.

January 2012

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal ...

Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.

Zweers, M.C.
Dean, W.B.
Kuppevelt, A.H.M.S.M. van
Bristow, J.
Schalkwijk, J.

January 2005

Contains fulltext : 47314schalkwijk.pdf (publisher's version ) (Closed access)Ehle...

Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

김현우

January 2011

Multiple epiphyseal dysplasia (MED) is a genetically heterogeneous group of diseases characterized b...

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.

Jackson, G.C.
Mittaz-Crettol, L.
Taylor, J.A.
Mortier, G.R.
Spranger, J.
Zabel, B.
Le Merrer, M.
Cormier-Daire, V.
Hall, C.M.
Offiah, A.
Wright, M.J.
Savarirayan, R.
Nishimura, G.
Ramsden, S.C.
Elles, R.
Bonafe, L.
Superti-Furga, A.
Unger, S.
Zankl, A.
Briggs, M.D.

January 2012

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal ...

A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2)

Muragaki, Y.
Mariman, E.C.M.
Beersum, S.E.C. van
Perälä, M.
Mourik, J.B.A. van
Warman, M.L.
Hamel, B.C.J.
Olsen, B.R.

January 1996

Contains fulltext : 23752___.PDF (publisher's version ) (Open Access

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

Jackson, G.C.
Marcus-Soekarman, D.
Stolte-Dijkstra, I.
Verrips, A.
Taylor, J.A.
Briggs, M.D.

January 2010

Item does not contain fulltextMultiple epiphyseal dysplasia (MED) is a clinically variable and genet...

COL9A3: A Third Locus for Multiple Epiphyseal Dysplasia

Paassilta, Petteri
Lohiniva, Jaana
Annunen, Susanna
Bonaventure, Jacky
Le Merrer, Martine
Pai, Lori
Ala-Kokko, Leena

April 1999

SummaryMultiple epiphyseal dysplasia (MED), an autosomal dominant osteochondrodysplasia, is a clinic...

Type IX Collagen Gene Mutations Can Result in Multiple Epiphyseal Dysplasia That Is Associated With Osteochondritis Dissecans and a Mild Myopathy

Jackson, Gail C.
Marcus-Soekarman, Dominique
Stolte-Dijkstra, Irene
Verrips, Aad
Taylor, Jacqueline A.
Briggs, Michael D.

April 2010

Multiple epiphyseal dysplasia (MED) is a clinically variable and genetically heterogeneous disease t...

Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia

Holden, Paul
Canty, Elizabeth G.
Mortier, Geert R.
Zabel, Bernhard
Spranger, Jurgen
Carr, Andrew
Grant, Michael E.
Loughlin, John A.
Briggs, Michael D.

July 1999

SummaryMultiple epiphyseal dysplasia (MED) is a genetically heterogeneous disorder with marked clini...

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.

Briggs, MD
Choi, H
Warman, ML
Loughlin, JA
Wordsworth, P
Sykes, BC
Irven, CM
Smith, M
Wynne-Davies, R
Lipson, MH

October 1994

Multiple epiphyseal dysplasia (MED) is a dominantly inherited chondrodysplasia characterized by mild...

A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity

Czarny-Ratajczak, Malwina
Lohiniva, Jaana
Rogala, Piotr
Kozlowski, Kazimierz
Perälä, Merja
Carter, Liisa
Spector, Tim D.
Kolodziej, Lukasz
Seppänen, Ulpu
Glazar, Renata
Królewski, Jan
Latos-Bielenska, Anna
Ala-Kokko, Leena

November 2001

Multiple epiphyseal dysplasia (MED) is an autosomal dominantly inherited chondrodysplasia. It is cli...

The Identification and Characterization of Chondrodysplasias Resulting from Cartilage Extracellular Matrix Abnormalities

Balasubramanian, Karthika

January 2017

The chondrodysplasias are a group of genetic disorders resulting from profound defects in cartilage ...

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

Zou, Y.
Zwolanek, D.
Izu, Y.
Gandhy, S.
Schreiber, G.
Brockmann, K.
Devoto, M.
Tian, Z.
Hu, Y.
Veit, G.
Meier, M.
Stetefeld, J.
Hicks, D.
Straub, V.
Voermans, N.C.
Birk, D.E.
Barton, E.R.
Koch, M.
Bonnemann, C.G.

January 2014

Contains fulltext : 136666.pdf (publisher's version ) (Closed access)Collagen VI-r...

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

Chapman, Kathryn L
Mortier, Geert
Chapman, Kay
Loughlin, John
Grant, Michael E
Briggs, Michael D

January 2001

Multiple epiphyseal dysplasia (MED) is a relatively mild and clinically variable osteochondrodysplas...

Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical description of three patients homozygous for a missense mutation in the COL11A2 gene

Steensel, M.A.M. van
Buma, P.
Waal Malefijt, M.C. de
Hoogen, F.H.J. van den
Brunner, H.G.

January 1997

Contains fulltext : 24596___.PDF (publisher's version ) (Open Access

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

Jackson, G.C.
Mittaz-Crettol, L.
Taylor, J.A.
Mortier, G.R.
Spranger, J.
Zabel, B.
Le Merrer, M.
Cormier-Daire, V.
Hall, C.M.
Offiah, A.
Wright, M.J.
Savarirayan, R.
Nishimura, G.
Ramsden, S.C.
Elles, R.
Bonafe, L.
Superti-Furga, A.
Unger, S.
Zankl, A.
Briggs, M.D.

January 2012

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal ...

Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.

Zweers, M.C.
Dean, W.B.
Kuppevelt, A.H.M.S.M. van
Bristow, J.
Schalkwijk, J.

January 2005

Contains fulltext : 47314schalkwijk.pdf (publisher's version ) (Closed access)Ehle...

Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

김현우

January 2011

Multiple epiphyseal dysplasia (MED) is a genetically heterogeneous group of diseases characterized b...

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.

Jackson, G.C.
Mittaz-Crettol, L.
Taylor, J.A.
Mortier, G.R.
Spranger, J.
Zabel, B.
Le Merrer, M.
Cormier-Daire, V.
Hall, C.M.
Offiah, A.
Wright, M.J.
Savarirayan, R.
Nishimura, G.
Ramsden, S.C.
Elles, R.
Bonafe, L.
Superti-Furga, A.
Unger, S.
Zankl, A.
Briggs, M.D.

January 2012

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal ...

A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

Abstract

Extracted data

A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

Abstract

Extracted data

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