Consulta: creatorFacets:"Otto,Paulo A."
Registros recuperados: 12
Data/hora: 02/06/2024 14:54:50

In memory of James F. Crow (1916-2012), a life dedicated to population genetics; with an updated list of his publications
Provedor de dados: 74
Autores: Otto,Paulo A.
Tipo: Info:eu-repo/semantics/other
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000100028

A note on the population genetic consequences of delayed larval development in insects
Provedor de dados: 74
Autores: Salles,Marcos Mattoso de; Otto,Paulo A.
Observations by Dobzhansky's group in the 1940s suggesting that the presence of recessive genotypes could account for lower larval developmental rates in Drosophila melanogaster were not confirmed at the time and all subsequent investigations on this subject focused on the analysis of ecological models based on competition among pre-adult individuals. However, a paper published in this journal in 1991 eventually confirmed the finding made by Dobzhansky and his co-workers. In this report, we provide a theoretical analysis of the population genetic effects of a delay in the rate of larval development produced by such a genetic mechanism.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Difference and differential equations; Drosophila; Dynamic systems; Larval development; Population genetics.
Ano: 2013
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000300019

Recurrence risks for isolated cases of nonsyndromic deafness
Provedor de dados: 74
Autores: Braga,Maria Cristina C.; Otto,Paulo A.
We present, in this paper, general formulae developed so as to permit the calculation of the recurrence risks for isolated cases of nonsyndromic deafness in the offspring of nonconsanguineous and consanguineous couples. We included, in all analyzed situations, the following factors: (a) a generic degree of parental consanguinity; (b) a variable proportion of environmental (non-genetic) cases of the defect, so that the formulae can be easily applied to populations with any epidemiological profile; (c) a variable number of normal sibs of the propositus. Besides presenting the logic and the detailed derivation of all original formulae, we present tables for immediate use, with the numerical values of the recurrence risks as a function of the variables...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Nonsyndromic deafness; Recurrence risks; Genetic counseling.
Ano: 2004
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000200004

Penetrance rate estimation in autosomal dominant conditions
Provedor de dados: 74
Autores: Otto,Paulo A.; Horimoto,Andréa R.V.R.
Accurate estimates of the penetrance rate of autosomal dominant conditions are important, among other issues, for optimizing recurrence risks in genetic counseling. The present work on penetrance rate estimation from pedigree data considers the following situations: 1) estimation of the penetrance rate K (brief review of the method); 2) construction of exact credible intervals for K estimates; 3) specificity and heterogeneity issues; 4) penetrance rate estimates obtained through molecular testing of families; 5) lack of information about the phenotype of the pedigree generator; 6) genealogies containing grouped parent-offspring information; 7) ascertainment issues responsible for the inflation of K estimates.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Penetrance rate; Maximum likelihood method; Recurrence risks; Genetic counseling.
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400006

Oswaldo Frota-Pessoa (1917-2010): a successful three-lane road in science
Provedor de dados: 74
Autores: Vianna-Morgante,Angela M.; Otto,Paulo A.
Tipo: Info:eu-repo/semantics/other
Ano: 2010
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300001

Population and mutation analysis of Y-STR loci in a sample from the city of São Paulo (Brazil)
Provedor de dados: 74
Autores: Soares-Vieira,José A.; Billerbeck,Ana E.C.; Iwamura,Edna S.M.; Mendonca,Berenice B.; Gusmão,Leonor; Otto,Paulo A.
The haplotypes of seven Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, and DYS393) were determined in a sample of 634 healthy Brazilian males (190 adult individuals and 222 father-son pairs). The 412 adults were unrelated, and the 222 father-son pairs had their biological relationship confirmed using autosomal STRs (LR &gt; 10,000). Among the 412 adults, a total of 264 different 7-loci haplotypes were identified, 210 of which were unique. The most frequent haplotype was detected in 31 instances, occurring with a frequency of 7.52%. The haplotype diversity index was calculated as 98.83%. Upon transmission of the 1,554 alleles, in 222 father-son pairs, six mutations were observed, with an average overall rate of 3.86 x 10-3 per...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Y-STR population data; São Paulo (Brazil); Mutation rates; Duplications.
Ano: 2008
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400009

Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients
Provedor de dados: 74
Autores: Scalco,Fernanda B.; Otto,Paulo A.; Brunetti,Iguatemy L.; Cruzes,Vania M.; Moretti-Ferreira,Danilo.
Smith-Lemli-Opitz syndrome (SLOS) or RSH syndrome comprises multiple congenital anomalies and mental retardation. The underlying defect is a deficiency in the activity of delta7-sterol reductase, which decreases cholesterol and increases 7-dehydrocholesterol (7-DHC) levels. Our aim was to identify and evaluate the frequency of SLOS manifestations in a group of Brazilian patients. Based on our own data and those reported previously, we present a simple method that allows the estimation of probabilities favoring the diagnosis of SLOS. We evaluated 30 patients clinically and determined their plasma levels of cholesterol and 7-dehydrocholesterol. In 11 patients, the diagnosis was confirmed by ultraviolet spectrophotometry (UV). Of 19 patients with normal...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Smith-Lemli-Opitz syndrome; Cholesterol metabolism; 7-dehydrocholesterol.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300003

PENCALC: a program for penetrance estimation in autosomal dominant diseases
Provedor de dados: 74
Autores: Horimoto,Andréa R.V. Russo; Onodera,Márcio T.; Otto,Paulo A.
We present a computer program developed for estimating penetrance rates in autosomal dominant diseases by means of family kinship and phenotype information contained within the pedigrees. The program also determines the exact 95% credibility interval for the penetrance estimate. Both executable (PenCalc for Windows) and web versions (PenCalcWeb) of the software are available. The web version enables further calculations, such as heterozygosity probabilities and assessment of offspring risks for all individuals in the pedigrees. Both programs can be accessed and down-loaded freely at the home-page address http://www.ib.usp.br/~otto/software.htm.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Penetrance (rate; Value) computer program maximum likelihood estimation.
Ano: 2010
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300012

Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders
Provedor de dados: 74
Autores: Santos,Silvana; Kok,Fernando; Weller,Mathias; Paiva,Francisco Rennan Lopes de; Otto,Paulo A.
A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the Brazilian communities with the highest rates of "deficiencies" (Neri, 2003), a term used to describe diseases, malformations, and handicaps in general. This prompted us to conduct a study of consanguinity levels in five of its municipal districts by directly interviewing their inhabitants. Information on 7,639 couples (corresponding to about 40% of the whole population of the studied districts) was...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Inbreeding levels; Genetic drift; Geographic isolation.
Ano: 2010
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000200003

A novel c.1037C &amp;gt; G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome
Provedor de dados: 74
Autores: Alves,Leandro Ucela; Pardono,Eliete; Otto,Paulo A.; Mingroni Netto,Regina Célia.
Ectrodactyly – ectodermal dysplasia and cleft lip/palate (EEC) syndrome (OMIM 604292) is a rare disorder determined by mutations in the TP63 gene. Most cases of EEC syndrome are associated to mutations in the DNA binding domain (DBD) region of the p63 protein. Here we report on a three-generation Brazilian family with three individuals (mother, son and grandfather) affected by EEC syndrome, determined by a novel mutation c.1037C &gt; G (p.Ala346Gly). The disorder in this family exhibits a broad spectrum of phenotypes: two individuals were personally examined, one presenting the complete constellation of EEC syndrome manifestations and the other presenting an intermediate phenotype; the third affected, a deceased individual not examined personally and...
Tipo: Info:eu-repo/semantics/report
Palavras-chave: EEC syndrome; TP63-mutations; P63-associated disorders; SHFM.
Ano: 2015
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100037

Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant
Provedor de dados: 74
Autores: Pardono,Eliete; Mazzeu,Juliana F.; Lezirovitz,Karina; Auricchio,Maria Teresa B.M.; Iughetti,Paula; Nascimento,Rafaella M.P.; Mingroni-Netto,Regina C.; Otto,Paulo A.
We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G &gt; T) and was present both in the affected individual and in his clinically normal father. The mutation found in the second family consisted of a deletion of 13 bases, c.764-776del(TTACCCTGACATT), in exon 5.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Waardenburg syndrome; PAX3 gene; Incomplete penetrance; Sensorineural hearing impairment; Telecanthus.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400003

Experience with molecular and cytogenetic diagnosis of fragile X syndrome in Brazilian families
Provedor de dados: 54
Autores: Mingroni-Netto,Regina C.; Pavanello,Rita C.M.; Otto,Paulo A.; Vianna-Morgante,Angela M.
We report on the cytogenetic and DNA analysis of 55 families with the fragile X (FMR-1 locus) mutation (318 individuals and 15 chorionic villi samples). A total of 129 males were investigated, 54 mentally normal and 75 presenting mental retardation. Among the 54 normal males, 11 had the premutation, and none expressed the fragile site. The full mutation was detected in 73 retarded males, and 14 (18%) presented a premutation along with the full mutation (mosaics). All of them manifested the fragile site. The frequencies of fragile site expression correlated positively with the sizes of the expansion of the CGG repeats (&lt;FONT FACE="Symbol"&gt;D&lt;/FONT&gt;). Among 153 normal females, 85 were found to be heterozygous for the premutation and 15 had the...
Tipo: Info:eu-repo/semantics/article
Ano: 1997
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551997000400028