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1.
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.
Hum Mutat
; 33(1): 144-57, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21922596
2.
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.
Am J Med Genet A
; 152A(4): 863-9, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20358595
3.
Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3.
Hum Mutat
; 29(2): 330, 2008 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-18205203
4.
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family.
Eur J Hum Genet
; 15(10): 1023-8, 2007 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-17579668
5.
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
Eur J Hum Genet
; 15(2): 150-4, 2007 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-17133256
6.
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.
Hum Mutat
; 26(6): 557-65, 2005 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-16287128
7.
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.
Hum Mutat
; 25(6): 593-4, 2005 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-15880723
8.
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
Eur J Hum Genet
; 13(3): 292-301, 2005 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-15523498
9.
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.
Am J Med Genet A
; 125A(3): 278-84, 2004 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-14994237
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