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1.
Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.
Genet Med
; 20(4): 411-419, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28817112
2.
Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center.
J Vasc Surg
; 68(3): 701-711, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29510914
3.
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.
J Med Genet
; 54(6): 432-440, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28258187
4.
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
Am J Hum Genet
; 92(4): 590-7, 2013 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-23499310
5.
The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.
Genet Med
; 18(1): 20-4, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25834947
6.
What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.
Am J Med Genet C Semin Med Genet
; 169(4): 307-13, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26566591
7.
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).
Genet Med
; 16(12): 881-8, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24922459
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-21282188
9.
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
Am J Hum Genet
; 86(3): 389-98, 2010 Mar 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-20188343
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-21637106
11.
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.
Genet Med
; 13(2): 125-30, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21239989
12.
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Hum Mutat
; 29(12): 1435-42, 2008 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-18566967
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-25205403
14.
Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.
Mol Genet Genomic Med
; 1(4): 194-205, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-24498616
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