about
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndromeBrazilian population data on the polymerase chain reaction-based loci LDLR, GYPA, HBGG, D7S8, and Gc.Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patients.Estimation of inbreeding and substructure levels in African-derived Brazilian quilombo populations.The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?Population genetics of nine short tandem repeat loci: allele frequency distribution in a Brazilian population sample.Monoamine oxidase a polymorphism in Brazilian patients: risk factor for late-onset Alzheimer's disease?Edward Maxwell (Max) Nicholls (1927-2011), a Key Player in the Development of the Two-Hit Model of Tumor Formation.Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia.Novel frameshift variant in gene SALL4 causing Okihiro syndrome.Waardenburg syndrome: Novel mutations in a large Brazilian sample.The search of a genetic basis for noise-induced hearing loss (NIHL).A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21.Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment".Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.Inbreeding estimates in human populations: Applying new approaches to an admixed Brazilian isolate.Notes on the population genetics of fragile X syndrome.Allele frequency estimates when only heterozygotes can be recognized: method of estimation and application in the case of chromosomal inversion polymorphisms in Drosophila.A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.Genomic imbalances associated with mullerian aplasiaReport of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion ofWNT-4,RAR-gamma, andRXR-alpha as major genes determining MRKH anomaly in a study of 25 affected womenGenetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studiesNovel mutations inIRF6in nonsyndromic cleft lip with or without cleft palate: When shouldIRF6mutational screening be done?Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndromeNo evidence of association between the D10S1423 locus and Alzheimer disease in Brazilian patientsEffect of mazindol on growth hormone levels in patients with Duchenne muscular dystrophyEstimates of conditional heterozygosity risks for young females in Duchenne muscular dystrophyEvaluation of carrier detection rates for Duchenne and Becker muscular dystrophies using serum creatine-kinase (CK) and pyruvate-kinase (PK) through discriminant analysisSerum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in female relatives and patients with X-linked muscular dystrophies (Duchenne and Becker)Effect of age on the detection rate in Duchenne muscular dystrophyWaardenburg syndrome: clinical differentiation between types I and IIAnalysis of the serotonin transporter polymorphism (5-HTTLPR) in Brazilian patients affected by dysthymia, major depression and bipolar disorderThe short variant of the polymorphism within the promoter region of the serotonin transporter gene is a risk factor for late onset Alzheimer's diseaseEvidence that BCL3 plays a role in the etiology of nonsyndromic oral clefts in Brazilian familiesClinical characterization of autosomal dominant and recessive variants of Robinow syndrome
P50
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P50
description
researcher
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wetenschapper
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հետազոտող
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name
Paulo A Otto
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Paulo A Otto
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Paulo A Otto
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Paulo A Otto
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type
label
Paulo A Otto
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Paulo A Otto
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Paulo A Otto
@nl
Paulo A Otto
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prefLabel
Paulo A Otto
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Paulo A Otto
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Paulo A Otto
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Paulo A Otto
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P106
P21
P31
P496
0000-0001-8810-6608