Detalhe da pesquisa
1.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Am J Hum Genet
; 109(12): 2230-2252, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36351433
2.
Splenic artery pathology presentation, operative interventions, and outcomes in 88 patients with vascular Ehlers-Danlos syndrome.
J Vasc Surg
; 78(2): 394-404, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37068529
3.
Multicenter Clinicopathologic Correlation of Kidney Biopsies Performed in COVID-19 Patients Presenting With Acute Kidney Injury or Proteinuria.
Am J Kidney Dis
; 77(1): 82-93.e1, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33045255
4.
Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4-related arteriopathy.
Am J Med Genet A
; 185(7): 2180-2189, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33878224
5.
Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta.
Am J Med Genet A
; 179(8): 1466-1475, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31179625
6.
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Am J Hum Genet
; 97(3): 483-92, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26320891
7.
Endovascular Repair of Internal Mammary Artery Aneurysms in 2 Sisters with SMAD3 Mutation.
Ann Vasc Surg
; 41: 283.e5-283.e9, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28286188
8.
Altered behavioral and neural responsiveness to counterfactual gains in the elderly.
Cogn Affect Behav Neurosci
; 16(3): 457-72, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26864879
9.
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
10.
Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen.
Hum Mutat
; 36(7): 728-39, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25963598
11.
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Hum Mol Genet
; 22(1): 1-17, 2013 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22949511
12.
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
Am J Med Genet A
; 167A(11): 2691-6, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26086840
13.
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
14.
Event-related nociceptive arousal enhances memory consolidation for neutral scenes.
J Neurosci
; 32(4): 1481-7, 2012 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-22279232
15.
Estrogen and the male hippocampus: genetic variation in the aromatase gene predicting serum estrogen is associated with hippocampal gray matter volume in men.
Hippocampus
; 23(2): 117-21, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22887836
16.
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
17.
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
18.
Normal collagen and bone production by gene-targeted human osteogenesis imperfecta iPSCs.
Mol Ther
; 20(1): 204-13, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22031238
19.
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
bioRxiv
; 2023 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36798371
20.
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Neurol Genet
; 9(5): e200090, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37560121