Detalhe da pesquisa
1.
Titin copy number variations associated with dominant inherited phenotypes.
J Med Genet
; 61(4): 369-377, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935568
2.
Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations.
N Engl J Med
; 385(11): 996-1004, 2021 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34496175
3.
[Benign lymphoid hyperplasia associated with HIV: An exceptional orbital location]. / Hyperplasie lymphoïde associée au VIH : une localisation orbitaire exceptionnelle.
Ann Pathol
; 40(6): 463-467, 2020 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-32718767
4.
EndMT contributes to the onset and progression of cerebral cavernous malformations.
Nature
; 498(7455): 492-6, 2013 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23748444
5.
Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1.
Eur Heart J
; 38(10): 751-758, 2017 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27941019
6.
A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.
Biochem Biophys Res Commun
; 494(1-2): 133-137, 2017 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29054413
7.
Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.
Ann Neurol
; 80(5): 741-753, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27666438
8.
Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase I/IIa clinical study.
Mol Ther
; 22(1): 219-25, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23831596
9.
Hereditary myopathy with early respiratory failure: occurrence in various populations.
J Neurol Neurosurg Psychiatry
; 85(3): 345-53, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606733
10.
Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies.
Cells
; 12(2)2023 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672271
11.
O(6) -methylguanine-DNA methyltransferase (MGMT) promoter methylation and low MGMT-encoded protein expression as prognostic markers in glioblastoma patients treated with biodegradable carmustine wafer implants after initial surgery followed by radiotherapy with concomitant and adjuvant temozolomide.
Cancer
; 118(18): 4545-54, 2012 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22359215
12.
CCM1 regulates vascular-lumen organization by inducing endothelial polarity.
J Cell Sci
; 123(Pt 7): 1073-80, 2010 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20332120
13.
[Lewy body disease, a frequent dementia]. / Une démence fréquente: la démence à corps de Lewy.
Bull Acad Natl Med
; 196(2): 445-55; discussion 455-7, 2012 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-23420962
14.
Multimodal evaluation of hypoxia in brain metastases of lung cancer and interest of hypoxia image-guided radiotherapy.
Sci Rep
; 11(1): 11239, 2021 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34045576
15.
Novel dominant distal titinopathy phenotype associated with copy number variation.
Ann Clin Transl Neurol
; 8(9): 1906-1912, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34312993
16.
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy.
Mol Genet Metab Rep
; 24: 100597, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32477874
17.
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Hum Mutat
; 30(2): E345-75, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18853459
18.
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
Brain
; 131(Pt 9): 2304-20, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18669490
19.
Isolated Cerebral Alveolar Echinococcosis.
Open Forum Infect Dis
; 6(1): ofy349, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740467
20.
Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome.
Mol Genet Genomic Med
; 7(8): e815, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31251474