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1.
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
Am J Hum Genet
; 92(4): 590-7, 2013 Apr 04.
Article
in English
| MEDLINE | ID: mdl-23499310
2.
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Hum Mol Genet
; 20(8): 1595-609, 2011 Apr 15.
Article
in English
| MEDLINE | ID: mdl-21282188
3.
COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.
Genet Med
; 13(8): 717-22, 2011 Aug.
Article
in English
| MEDLINE | ID: mdl-21637106
4.
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
Hum Genet
; 128(1): 103-11, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20443122
5.
The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis.
Hum Genet
; 124(4): 369-77, 2008 Nov.
Article
in English
| MEDLINE | ID: mdl-18810497
6.
The spectrum of WRN mutations in Werner syndrome patients.
Hum Mutat
; 27(6): 558-67, 2006 Jun.
Article
in English
| MEDLINE | ID: mdl-16673358
7.
Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.
Eur J Hum Genet
; 23(6): 796-802, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25205403
8.
Collagen expression in fibroblasts with a novel LMNA mutation.
Biochem Biophys Res Commun
; 352(3): 603-8, 2007 Jan 19.
Article
in English
| MEDLINE | ID: mdl-17150192
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