|
| 37489771 | Czech dysplasia mimicking rheumatoid arthritis: Case series and literature review. | | 2023 |
| 37090838 | Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant. | | 2023 |
| 37392700 | Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ deficiency: Hypomorphic variants and two distinct disease entities. | | 2023 |
| 34190362 | Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center. | Journal of the Peripheral Nervous System | 2021 |
| 34107486 | Clinical Features of de novo Pure 16q21q24.1 Chromosome Duplication. | Cytogenetic and Genome Research | 2021 |
| 33568816 | Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. | Nature | 2021 |
| 32473227 | Unique skeletal manifestations in patients with Primrose syndrome. | European Journal of Medical Genetics | 2020 |
| 32266967 | Primrose syndrome: Characterization of the phenotype in 42 patients. | Clin Genet | 2020 |
| 32420688 | Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1. | Am J Med Genet A | 2020 |
| 31949312 | Defining the clinical phenotype of Saul-Wilson syndrome. | Genet Med | 2020 |
| 29169895 | Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant. | Eur J Med Genet | 2018 |
| 30070764 | Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair. | American Journal of Medical Genetics, Part A | 2018 |
| 30290151 | A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. | Am J Hum Genet | 2018 |
| 29988626 | 19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype. | Clinical Case Reports (discontinued) | 2018 |
| 27645359 | Serological prevalence of celiac disease in Brazilian population of multiple sclerosis, neuromyelitis optica and myelitis. | Multiple Sclerosis and Related Disorders | 2016 |
| 27038030 | Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. | Journal of Inherited Metabolic Disease | 2016 |
| 25168210 | TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum. | Brain | 2015 |
| 25792522 | Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. | Eur J Med Genet | 2015 |
| 25604658 | Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. | Am J Med Genet A | 2015 |
| 25852445 | Clinical and molecular heterogeneity in brazilian patients with sotos syndrome. | Molecular Syndromology | 2015 |
| 25017102 | Mutations in ZBTB20 cause Primrose syndrome. | Nature Genetics | 2014 |
| 22928720 | Brain MRI and magnetic resonance spectroscopy findings in patients with hyperargininemia. | Journal of Neuroimaging | 2014 |
| 21897445 | Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome. | European Journal of Human Genetics | 2012 |
| 22959135 | Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. | Gene | 2012 |
| 22791571 | Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia. | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2012 |
| 22633632 | Clinical features and neurologic progression of hyperargininemia. | Pediatric Neurology | 2012 |
| 22987480 | The signature of craniofacial deformation in fibrodysplasia ossificans progressiva. | American Journal of Medical Genetics, Part A | 2012 |
| 22057962 | Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients. | Genetics and Molecular Research | 2011 |
| 21420641 | Craniofacial findings in fibrodysplasia ossificans progressiva: computerized tomography evaluation. | | 2011 |
| 21567911 | Additional features of unique Primrose syndrome phenotype. | American Journal of Medical Genetics, Part A | 2011 |
| 21948702 | Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion. | American Journal of Medical Genetics, Part A | 2011 |
| 20190637 | Mandibular hypoplasia in fibrodysplasia ossificans progressiva causing obstructive sleep apnoea with pulmonary hypertension. | Clinical Dysmorphology | 2010 |
| 19796185 | Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients. | Clinical Genetics | 2010 |
| 18978658 | Occipital encephalocele and hypoplastic thumb: a nonrandom association of malformations. | Clinical Dysmorphology | 2008 |
| 18627062 | Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient. | American Journal of Medical Genetics, Part A | 2008 |
| 18358414 | Homozygosity enhances severity in spinocerebellar ataxia type 3. | Pediatric Neurology | 2008 |
| 17846997 | Clinical and molecular phenotype of Aicardi-Goutieres syndrome. | Am J Hum Genet | 2007 |
| 16718686 | Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations. | American Journal of Medical Genetics, Part A | 2006 |
| 16791374 | Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis. | Arquivos de Neuro-Psiquiatria | 2006 |
| 14997019 | Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia. | Journal of Molecular Neuroscience | 2004 |
| 12868481 | Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant. | Clinical Dysmorphology | 2003 |
| 10889543 | Analysis of the serotonin transporter polymorphism (5-HTTLPR) in Brazilian patients affected by dysthymia, major depression and bipolar disorder. | Molecular Psychiatry | 2000 |