Lista de obras - Paulo A Otto - Dominio Público Uruguay

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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.

artículo científico publicado en 2008

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

artículo científico publicado en 1990

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

artículo científico publicado en 2004

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

artículo científico publicado en 2000

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

artículo científico publicado en 2003

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

artículo científico publicado en 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.

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Effect of age on the detection rate in Duchenne muscular dystrophy

artículo científico publicado en 1980

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

artículo científico publicado en 1988

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

artículo científico publicado en 1989

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

artículo científico publicado en 2014

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

artículo científico publicado en 1986

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado el 1 de junio de 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 2004

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

artículo científico publicado en 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.

artículo científico publicado en 1992

Novel frameshift variant in gene SALL4 causing Okihiro syndrome

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado el 1 de septiembre de 2010

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

artículo científico publicado en 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

artículo científico publicado en 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)

artículo científico publicado en 1980

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

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 1998

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

artículo científico publicado en 2006

Waardenburg syndrome: Novel mutations in a large Brazilian sample.

artículo científico publicado en 2018

Waardenburg syndrome: clinical differentiation between types I and II

artículo científico publicado en 2003

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

artículo científico publicado en 2006

Lista de obras de Paulo A Otto

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

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

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

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

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

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

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

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

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

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

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

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

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

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

Effect of age on the detection rate in Duchenne muscular dystrophy

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

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

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

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

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

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

Genomic imbalances associated with mullerian aplasia

HW_TEST, a program for comprehensive HARDY-WEINBERG equilibrium testing

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

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

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

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

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

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

Notes on the population genetics of fragile X syndrome.

Novel frameshift variant in gene SALL4 causing Okihiro syndrome

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

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

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

Polymorphic Alu insertions in six Brazilian African-derived populations

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

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

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

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

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

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

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

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

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

Waardenburg syndrome: Novel mutations in a large Brazilian sample.

Waardenburg syndrome: clinical differentiation between types I and II

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