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Chronic Total Occlusion and Successful Drug-Eluting Stent Placement in Takayasu Arteritis-Induced Renal Artery Stenosis.
- Published in:
- Clinical Medicine & Research, 2013, v. 11, n. 4, p. 233, doi. 10.3121/cmr.2013.1132
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- Publication type:
- Article
Treatment of an Angio‐Seal™‐related vascular complication using the SilverHawk™ plaque excision system: A case report.
- Published in:
- Catheterization & Cardiovascular Interventions, 2007, v. 69, n. 1, p. 141, doi. 10.1002/ccd.20877
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- Publication type:
- Article
Late acute thrombosis after coronary brachytherapy: When is the risk over?
- Published in:
- Catheterization & Cardiovascular Interventions, 2001, v. 54, n. 2, p. 216, doi. 10.1002/ccd.1271
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- Publication type:
- Article
The phenotype of a 45, X male with a Y/18 translocation.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 37, doi. 10.1111/j.1399-0004.1996.tb04322.x
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- Publication type:
- Article
Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.
- Published in:
- 2011
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- Publication type:
- Case Study
Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.
- Published in:
- Journal of Genetics, 2021, v. 100, n. 1, p. 1, doi. 10.1007/s12041-021-01261-x
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- Publication type:
- Article
‘Distal 16p12.2 microdeletion’ in a patient with autosomal recessive deafness-22.
- Published in:
- Journal of Genetics, 2019, v. 98, n. 2, p. N.PAG, doi. 10.1007/s12041-019-1107-0
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- Publication type:
- Article
Diagnosis and Treatment of Peripheral Arterial Disease in CKD Patients.
- Published in:
- Seminars in Dialysis, 2013, v. 26, n. 2, p. 240, doi. 10.1111/sdi.12001
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- Publication type:
- Article
How I Do It: Endovascular Stent Deployment Using a Novel Technique That Obviates the Need for Introducer-Sheath Upsizing.
- Published in:
- Seminars in Dialysis, 2009, v. 22, n. 5, p. 584, doi. 10.1111/j.1525-139X.2008.00472.x
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- Publication type:
- Article
An Interesting Case: Retrograde Blood Flow from a LIMA Sustaining Hemodialysis via an AVF.
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- Seminars in Dialysis, 2009, v. 22, n. 5, p. 566, doi. 10.1111/j.1525-139X.2009.00627.x
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- Publication type:
- Article
Arterial Interventions in Arteriovenous Access and Chronic Kidney Disease: A Role for Interventional Nephrologists.
- Published in:
- Seminars in Dialysis, 2009, v. 22, n. 5, p. 545, doi. 10.1111/j.1525-139X.2009.00626.x
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- Publication type:
- Article
How I Do It: Directional Atherectomy for In-Stent Restenosis of a PTFE Arteriovenous Graft.
- Published in:
- Seminars in Dialysis, 2008, v. 21, n. 3, p. 266, doi. 10.1111/j.1525-139X.2007.00418.x
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- Publication type:
- Article
How I do it: preferential use of the right external jugular vein for tunneled catheter placement.
- Published in:
- 2008
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- Publication type:
- journal article
Endovascular Treatment.
- Published in:
- 2000
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- Publication type:
- Case Study
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 537, doi. 10.1002/ajmg.a.36895
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- Publication type:
- Article
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
- Published in:
- Nature Genetics, 2008, v. 40, n. 3, p. 322, doi. 10.1038/ng.93
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- Publication type:
- Article
Genotype-Phenotype Correlation of 2q37 Deletions Including <i>NPPC</i> Gene Associated with Skeletal Malformations.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066048
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- Publication type:
- Article
Identification of an Interstitial 18p11.32-p11.31 Duplication Including the <i>EMILIN2</i> Gene in a Family with Porokeratosis of Mibelli.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0061311
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- Publication type:
- Article
Parental Imbalances Involving Chromosomes 15q and 22q May Predispose to the Formation of <i>De Novo</i> Pathogenic Microdeletions and Microduplications in the Offspring.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057910
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- Publication type:
- Article
Altered Intra-Nuclear Organisation of Heterochromatin and Genes in ICF Syndrome.
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- PLoS ONE, 2010, v. 5, n. 6, p. 1, doi. 10.1371/journal.pone.0011364
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- Publication type:
- Article
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.
- Published in:
- BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-43
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- Publication type:
- Article
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.
- Published in:
- 2013
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- Publication type:
- journal article
Direct duplication 12p11.21–p13.31 mediated by segmental duplications: a new recurrent rearrangement?
- Published in:
- Human Genetics, 2005, v. 118, n. 2, p. 207, doi. 10.1007/s00439-005-0008-x
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- Publication type:
- Article
Gene dosage of the spermidine/spermine N<sup>1</sup>-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 235, doi. 10.1007/s00439-002-0791-6
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- Publication type:
- Article
Satellite 2 methylation patterns in normal and ICF syndrome cells and association of hypomethylation with advanced replication.
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 452, doi. 10.1007/s004390100590
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- Publication type:
- Article
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1219, doi. 10.1038/ejhg.2013.40
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- Publication type:
- Article
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).
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- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 483, doi. 10.1038/ejhg.2008.191
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- Publication type:
- Article
Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1443, doi. 10.1038/ejhg.2008.119
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- Publication type:
- Article
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 76, doi. 10.1038/sj.ejhg.5201719
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- Publication type:
- Article
Genotypic, Phenotypic and Biological Characterization of a Novel Human Lung Adenocarcinoma Cell Line (LC 89).
- Published in:
- Oncology, 1994, v. 51, n. 3, p. 220, doi. 10.1159/000227337
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- Publication type:
- Article
Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a lowfrequency noncoding RBM8A SNP: a new familial case.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0188-6
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- Publication type:
- Article
Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0134-7
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- Publication type:
- Article
Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0115-x
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- Publication type:
- Article
Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0054-y
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- Publication type:
- Article
A rare 3q13.31 microdeletion including GAP43 and LSAMP genes.
- Published in:
- Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-52
- By:
- Publication type:
- Article
Vertebral Artery Embolic Protection Via Ipsilateral Brachial Approach During Left Subclavian Artery Angioplasty and Stenting.
- Published in:
- Vascular & Endovascular Surgery, 2006, v. 40, n. 3, p. 235, doi. 10.1177/153857440604000309
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- Publication type:
- Article
Percutaneous Closure of a Large PDA in a 35-Year-Old Man with Elevated Pulmonary Vascular Resistance.
- Published in:
- Congenital Heart Disease, 2008, v. 3, n. 2, p. 149, doi. 10.1111/j.1747-0803.2008.00169.x
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- Publication type:
- Article
Pre PCI hospital antithrombotic therapy for ST elevation myocardial infarction: striving for consensus.
- Published in:
- Journal of Thrombosis & Thrombolysis, 2012, v. 34, n. 1, p. 20, doi. 10.1007/s11239-012-0744-4
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- Publication type:
- Article
Alcohol septal ablation for left ventricular outflow tract obstruction in cardiac amyloidosis: New indication for an established therapy.
- Published in:
- Catheterization & Cardiovascular Interventions, 2022, v. 100, n. 5, p. 910, doi. 10.1002/ccd.30411
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- Publication type:
- Article
The impact of increased pulmonary arterial pressure on outcomes after transcatheter aortic valve replacement.
- Published in:
- Catheterization & Cardiovascular Interventions, 2020, v. 96, n. 7, p. E723, doi. 10.1002/ccd.28862
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- Publication type:
- Article
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1352, doi. 10.1002/humu.21378
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- Publication type:
- Article
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 724, doi. 10.1002/humu.20511
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- Publication type:
- Article
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 459, doi. 10.1002/humu.20465
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- Publication type:
- Article
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene.
- Published in:
- Human Mutation, 2005, v. 26, n. 5, p. 426, doi. 10.1002/humu.20235
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- Publication type:
- Article
Characterization of a recurrent 15q24 microdeletion syndrome.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 5, p. 567, doi. 10.1093/hmg/ddm016
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- Publication type:
- Article
Genomic inversions of human chromosome 15q11–q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 8, p. 849, doi. 10.1093/hmg/ddg101
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- Publication type:
- Article
Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.
- Published in:
- Cytogenetic & Genome Research, 2022, v. 162, n. 3, p. 132, doi. 10.1159/000525181
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- Publication type:
- Article
Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations.
- Published in:
- Cytogenetic & Genome Research, 2018, v. 156, n. 3, p. 144, doi. 10.1159/000494152
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- Publication type:
- Article