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List of works by Paulo A Otto

A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21.

scientific article published on 21 January 2009

A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.

scientific article

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3.

scientific article published on 21 May 2008

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.

scientific article

Allele frequency estimates when only heterozygotes can be recognized: method of estimation and application in the case of chromosomal inversion polymorphisms in Drosophila.

scientific article published in April 1990

Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia

scientific article published in January 2004

Analysis of the serotonin transporter polymorphism (5-HTTLPR) in Brazilian patients affected by dysthymia, major depression and bipolar disorder

scientific article published on 01 July 2000

Brazilian population data on the polymerase chain reaction-based loci LDLR, GYPA, HBGG, D7S8, and Gc.

scientific article

Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome

scientific article published on 01 August 2007

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

scientific article published on 01 February 2007

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

scientific article

Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment".

scientific article published on 20 March 2006

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

scientific article published on 19 June 2013

Edward Maxwell (Max) Nicholls (1927-2011), a Key Player in the Development of the Two-Hit Model of Tumor Formation

scientific article published on 15 June 2016

Effect of age on the detection rate in Duchenne muscular dystrophy

scientific article published on 01 September 1980

Effect of mazindol on growth hormone levels in patients with Duchenne muscular dystrophy

scientific article published on 01 December 1988

Estimates of conditional heterozygosity risks for young females in Duchenne muscular dystrophy

scientific article published on 01 January 1989

Estimation of inbreeding and substructure levels in African-derived Brazilian quilombo populations

scientific article published on October 2014

Evaluation of carrier detection rates for Duchenne and Becker muscular dystrophies using serum creatine-kinase (CK) and pyruvate-kinase (PK) through discriminant analysis

scientific article published on 01 October 1986

Evidence that BCL3 plays a role in the etiology of nonsyndromic oral clefts in Brazilian families

scientific article published on 01 November 2002

Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies

article

Genomic imbalances associated with mullerian aplasia

scientific article published on 26 November 2007

HW_TEST, a program for comprehensive HARDY-WEINBERG equilibrium testing

scientific article published on 11 May 2020

Inbreeding estimates in human populations: Applying new approaches to an admixed Brazilian isolate.

scientific article published on 24 April 2018

Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders ⬇️

scientific article published on June 1, 2010

Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion

scientific article published on 12 May 2018

Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patients

scientific article published on January 2004

Monoamine oxidase a polymorphism in Brazilian patients: risk factor for late-onset Alzheimer's disease?

scientific article published in January 2005

No evidence of association between the D10S1423 locus and Alzheimer disease in Brazilian patients

article

Notes on the population genetics of fragile X syndrome.

scientific article published in April 1992

Novel frameshift variant in gene SALL4 causing Okihiro syndrome

scientific article published on 11 January 2016

Novel mutations inIRF6in nonsyndromic cleft lip with or without cleft palate: When shouldIRF6mutational screening be done?

scientific article published on 01 June 2009

PENCALC: a program for penetrance estimation in autosomal dominant diseases ⬇️

scientific article published on September 1, 2010

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.

scientific article published on December 2004

Polymorphic Alu insertions in six Brazilian African-derived populations

scientific article published on 01 May 2004

Population genetics of nine short tandem repeat loci: allele frequency distribution in a Brazilian population sample

scientific article published in June 2002

Report 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 women

article

Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in female relatives and patients with X-linked muscular dystrophies (Duchenne and Becker)

scientific article published on 01 June 1980

Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes

scientific article published on 04 March 2009

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.

scientific article

The search of a genetic basis for noise-induced hearing loss (NIHL).

scientific article published on 3 September 2010

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.

scientific article published on 30 December 2015

The short variant of the polymorphism within the promoter region of the serotonin transporter gene is a risk factor for late onset Alzheimer's disease

scientific article published on 01 September 1998

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome

scientific article

Waardenburg syndrome: Novel mutations in a large Brazilian sample.

scientific article

Waardenburg syndrome: clinical differentiation between types I and II

scientific article published on 01 March 2003

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

scientific article published in January 2006

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