|1.||Superti-Furga, A: 3 articles (12/2011 - 03/2001)|
|2.||Bonafé, L: 2 articles (12/2011 - 12/2008)|
|3.||Rossi, A: 2 articles (12/2008 - 03/2001)|
|4.||Lourenço, T: 1 article (12/2011)|
|5.||Medeira, A: 1 article (12/2011)|
|6.||Sousa, A B: 1 article (12/2011)|
|7.||Reis-Lima, M: 1 article (12/2011)|
|8.||Mittaz, L: 1 article (12/2011)|
|9.||Pinto-Basto, J: 1 article (12/2011)|
|10.||Saraiva, J: 1 article (12/2011)|
|1.||Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
10/01/2004 - "Heterozygotes for both a null mutation and a partial-function mutation result in either atelosteogenesis type 2 or DTD, whereas the milder, recessive multiple epiphyseal dysplasia phenotype is homozygous for partial-function mutations. "
07/01/2001 - "Mutations in this gene are responsible for four recessively inherited chondrodysplasias that include diastrophic dysplasia, multiple epiphyseal dysplasia, atelosteogenesis type 2 and achondrogenesis 1B (ACG-1B). "
12/01/2008 - "Mutations in the sulfate transporter gene SLC26A2 (DTDST) cause a continuum of skeletal dysplasia phenotypes that includes achondrogenesis type 1B (ACG1B), atelosteogenesis type 2 (AO2), diastrophic dysplasia (DTD), and recessive multiple epiphyseal dysplasia (rMED). "
10/15/2003 - "Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene result in a family of skeletal dysplasias, which comprise lethal (achondrogenesis type 1B and atelosteogenesis type 2) and non-lethal conditions (diastrophic dysplasia and recessive multiple epiphyseal dysplasia (rMED)). "
07/01/2003 - "Mutations in a sulfate-chloride antiporter gene, the diastrophic dysplasia sulfate transporter (DTDST), have been associated with a family of skeletal dysplasias including recessive multiple epiphyseal dysplasia, diastrophic dysplasia (DTD), atelosteogenesis type 2, and achondrogenesis type 1B (ACG1B). "
|2.||Achondrogenesis type 1B
|3.||2'- chloro- 2,4- dinitro- 5'- 6- di(trifluoromethyl)diphenylamine