Search Results - "Peñaherrera, M."
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The application of epiphenotyping approaches to DNA methylation array studies of the human placenta
Published in Epigenetics & chromatin (04-10-2023)“…Abstract Background Genome-wide DNA methylation (DNAme) profiling of the placenta with Illumina Infinium Methylation bead arrays is often used to explore the…”
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Decreased Placental Methylation at the H19 / IGF2 Imprinting Control Region is Associated with Normotensive Intrauterine Growth Restriction but not Preeclampsia
Published in Placenta (Eastbourne) (01-03-2010)“…Abstract Many genes exhibiting genomic imprinting, parent-of-origin differences in gene expression, are involved in regulating placental and fetal growth. The…”
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Evaluating DNA methylation and gene expression variability in the human term placenta
Published in Placenta (Eastbourne) (01-12-2010)“…Abstract Obtaining representative samples from a term placenta for gene-expression studies is confounded by both within placental heterogeneity and sampling…”
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Cytogenetic and molecular study of a premature male infant with 46,XX derived from ICSI: Case report
Published in Human reproduction (Oxford) (01-11-2003)“…We investigated the aetiology of the male phenotype in a premature infant derived from ICSI with a 46,XX karyotype. A karyotypically normal couple underwent…”
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Patterns of placental development evaluated by X chromosome inactivation profiling provide a basis to evaluate the origin of epigenetic variation
Published in Human reproduction (Oxford) (01-06-2012)“…BACKGROUND Inactivation of the maternally or paternally derived X chromosome (XCI) initially occurs in a random manner in early development; however as tissues…”
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Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants
Published in Molecular human reproduction (01-04-2015)“…Triploidy is a relatively common cause of miscarriage; however, recurrent triploidy has rarely been reported. A healthy 34-year-old woman was ascertained…”
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The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders
Published in Clinical genetics (01-02-2011)“…Bourque DK, Peñaherrera MS, Yuen RKC, Van Allen MI, McFadden DE, Robinson WP. The utility of quantitative methylation assays at imprinted genes for the…”
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The dynamics of X-inactivation skewing as women age
Published in Clinical genetics (01-10-2004)“…Non‐random X‐chromosome inactivation (XCI) has been associated with X‐linked diseases, neoplastic diseases, recurrent pregnancy loss, and trisomy risk. It also…”
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X-chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t(X;20) case
Published in American journal of medical genetics. Part A (01-04-2003)“…Non‐random X‐chromosome inactivation (XCI) is often seen in female carriers of balanced X‐autosome translocations and is generally attributed to a selective…”
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Skewed X-Chromosome Inactivation Is Associated with Trisomy in Women Ascertained on the Basis of Recurrent Spontaneous Abortion or Chromosomally Abnormal Pregnancies
Published in American journal of human genetics (01-02-2003)“…An increase in extremely skewed X-chromosome inactivation (XCI) (⩾90%) among women who experienced recurrent spontaneous abortion (RSA) has been previously…”
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Skewed X-Chromosome Inactivation Is Common in Fetuses or Newborns Associated with Confined Placental Mosaicism
Published in American journal of human genetics (01-12-1997)“…The inactivation of one X chromosome in females is normally random with regard to which X is inactivated. However, exclusive or almost-exclusive inactivation…”
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The mechanisms involved in formation of deletions and duplications of 15q11-q13
Published in Journal of medical genetics (01-02-1998)“…Haplotype analysis was undertaken in 20 cases of 15q11-q13 deletion associated with Prader-Willi syndrome (PWS) or Angelman syndrome (AS) to determine if these…”
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Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15
Published in Clinical genetics (01-05-2000)“…Paternal uniparental disomy (UPD) for chromosome 15 (UPD15), which is found in ∼2% of Angelman syndrome (AS) patients, is much less frequent than maternal…”
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An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta
Published in Clinical genetics (01-12-2000)“…Skewed X‐chromosome inactivation (XCI) is frequently found in the diploid fetal tissues of individuals with mosaic trisomy that originated from a ‘trisomic…”
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Clinical and molecular findings in two patients with Russell-Silver syndrome and UPD7: Comparison with non-UPD7 cases
Published in American journal of medical genetics (26-11-1999)“…The clinical presentation of prenatal and postnatal growth deficiency, triangular face, relative macrocephaly, and body asymmetry is frequently diagnosed as…”
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X-chromosome inactivation and telomere size in newborns resulting from intracytoplasmic sperm injection
Published in American journal of medical genetics. Part A (01-09-2005)Get full text
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Estilos de personalidad y funcionamiento familiar en estudiantes de psicología de una universidad privada en Ecuador
Published in Ateneo (01-05-2019)“…Los estilos de personalidad y los tipos de funcionamiento familiar son esenciales para futuros psicólogos pues a partir de ellos se regula el ejercicio…”
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ICSI and the transmission of X‐autosomal translocation: a three‐generation evaluation of X;20 translocation: Case report
Published in Human reproduction (Oxford) (01-07-2003)“…Published reports show that male carriers of an X‐autosome translocation, which is either inherited from their mother or is de novo, are generally sterile,…”
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Follow up study of chromosome aberrations in lymphocytes in hospital workers occupationally exposed to low levels of ionizing radiation
Published in Mutation Research-Environmental Mutagenesis and Related Subjects (01-12-1995)“…In the present study we analyzed and followed up on the cytogenetic effects of low levels of ionizing X-radiation on hospital workers at 72 h cultures. Samples…”
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Global and regional effects of potentially modifiable risk factors associated with acute stroke in 32 countries (INTERSTROKE): a case-control study
Published in The Lancet (British edition) (20-08-2016)“…Summary Background Stroke is a leading cause of death and disability, especially in low-income and middle-income countries. We sought to quantify the…”
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