Detalhe da pesquisa
1.
Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.
Cytogenet Genome Res
; 162(3): 132-139, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896065
2.
Alcohol septal ablation for left ventricular outflow tract obstruction in cardiac amyloidosis: New indication for an established therapy.
Catheter Cardiovasc Interv
; 100(5): 910-914, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36153647
3.
The impact of increased pulmonary arterial pressure on outcomes after transcatheter aortic valve replacement.
Catheter Cardiovasc Interv
; 96(7): E723-E734, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32243048
4.
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
Am J Hum Genet
; 99(3): 555-566, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569549
5.
Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations.
Cytogenet Genome Res
; 156(3): 144-149, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30508811
6.
Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity.
Cytogenet Genome Res
; 156(1): 14-21, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30086552
7.
Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.
Cytogenet Genome Res
; 152(1): 22-28, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28605748
8.
Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.
Gynecol Endocrinol
; 32(1): 14-7, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26572316
9.
Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment.
Cytogenet Genome Res
; 146(1): 39-43, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26112959
10.
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.
Am J Med Genet A
; 167A(3): 537-44, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25655429
11.
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
Am J Hum Genet
; 88(6): 796-804, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21596365
12.
Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes.
BMC Neurol
; 13: 43, 2013 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23663378
13.
Diagnosis and treatment of peripheral arterial disease in CKD patients.
Semin Dial
; 26(2): 240-51, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23067047
14.
Chronic total occlusion and successful drug-eluting stent placement in Takayasu arteritis-induced renal artery stenosis.
Clin Med Res
; 11(4): 233-6, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23656802
15.
Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
BMC Med Genet
; 13: 93, 2012 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23035971
16.
Pre PCI hospital antithrombotic therapy for ST elevation myocardial infarction: striving for consensus.
J Thromb Thrombolysis
; 34(1): 20-30, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22562147
17.
LUCAS compression device-related severe injuries in a series of patients presenting with outside hospital cardiac arrest.
J Cardiol Cases
; 26(6): 432-435, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36506494
18.
Prognosis of paradoxical low-flow low-gradient aortic stenosis after transcatheter aortic valve replacement.
J Cardiovasc Med (Hagerstown)
; 22(6): 486-491, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33229861
19.
The Prognosis of Elderly Patients with Aortic Stenosis after Transcatheter Aortic Valve Replacement.
Intern Med
; 60(4): 517-523, 2021 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33028765
20.
Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.
J Genet
; 1002021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33707360