Detalhe da pesquisa
1.
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
J Vasc Surg
; 71(1): 149-157, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353273
2.
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Am J Hum Genet
; 99(5): 1005-1014, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745832
3.
Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.
Genet Med
; 21(2): 275-283, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29970925
4.
A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.
J Vasc Surg
; 70(5): 1543-1554, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31126764
5.
Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.
Genet Med
; 20(4): 411-419, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28817112
6.
Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center.
J Vasc Surg
; 68(3): 701-711, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29510914
7.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-28258187
8.
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.
Am J Med Genet C Semin Med Genet
; 175(1): 40-47, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28306228
9.
The 2017 international classification of the Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet
; 175(1): 8-26, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28306229
10.
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
Am J Hum Genet
; 92(4): 590-7, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23499310
11.
The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.
Genet Med
; 18(1): 20-4, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25834947
12.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-26566591
13.
Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome.
Genet Med
; 16(12): 874-80, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24922461
14.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-24922459
15.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-21282188
16.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-20188343
17.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-21637106
18.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-21239989
19.
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta.
HGG Adv
; 2(4): 100051, 2021 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047842
20.
A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta.
JBMR Plus
; 3(5): e10118, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131341