Abnormal Offspring Syndrome
Mostrando 1-10 de 10 artigos, teses e dissertações.
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1. Fisiologia e metabolismo placentário por canulação cordonal em gestações de bovinos normais, FIV e clonados / Placental physiology and metabolism by cordonal canulation in normal, IVF and cloned bovine concepti
O desenvolvimento dos sistemas de produção de embriões por fecundação in vitro (FIV) ou transferência nuclear com células somáticas (TNCS) em diversas espécies animais, em especial a bovina, acarretou na manifestação de anormalidades de desenvolvimento in vivo, com a placenta sendo considerada o fator determinante no aparecimento destes distúrbio
Publicado em: 2010
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2. Pregnancy in a patient with 47,XX,i(Xq) karyotype.
A phenotypically normal woman with a 47,XX,i(Xq) karyotype is reported. She has had two successful pregnancies monitored by prenatal diagnosis with the delivery of normal offspring. The presence of a structurally abnormal third X chromosome has not demonstrably affected this patient or her reproduction. The importance of the human X and Y chromosomes in sexu
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3. Prenatal Diagnosis of an Inherited Translocation Between Chromosomes No. 9 and 18
A phenotypically normal woman has an apparently balanced reciprocal translocation between chromosomes No. 9 and No. 18 (translocation 9p-; 18p+), which was transmitted in an unbalanced state to an infant and a fetus. In the latter instance, chromosome analysis of cultured amniotic cells disclosed an abnormal karyotype, which was identical to that of the firs
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4. Platelets of the Wistar Furth rat have reduced levels of alpha-granule proteins. An animal model resembling gray platelet syndrome.
Rats of the Wistar Furth (WF) strain have hereditary macrothrombocytopenia (large mean platelet volume [MPV] with increased platelet size heterogeneity and reduced platelet count). Ultrastructural studies suggest that this anomaly results from erratic subdivision of megakaryocyte cytoplasm into platelets. In this study, we have examined protein profiles of p
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5. The Molecular through Ecological Genetics of Abnormal Abdomen. III. Tissue-Specific Differential Replication of Ribosomal Genes Modulates the Abnormal Abdomen Phenotype in DROSOPHILA MERCATORUM
The abnormal abdomen (aa) syndrome in Drosophila mercatorum is controlled by two major X-linked genetic elements. We have previously shown that the major X-linked element of aa is associated with the presence of large inserts in the 28S gene of the ribosomal RNA (rDNA) genes. We show that, in polytene tissue of wild-type D. mercatorum, the uninterrupted rD
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6. Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome.
The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hypospadias with cryptorchidism and micropenis (mild undervirilisation) to clitoromegaly and partial labial fusion (marked undervirilisation). Within an affected family, wide variation in the degree of genital ambiguity between individuals can be
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7. Identical Mitochondrial DNA Deletion in a Woman with Ocular Myopathy and in Her Son with Pearson Syndrome
Single deletions of mitochondrial DNA (mtDNA) are associated with three major clinical conditions: Kearns-Sayre syndrome, a multisystem disorder; Pearson syndrome (PS), a disorder of the hematopoietic system; and progressive external ophthalmoplegia (PEO), primarily affecting the ocular muscles. Typically, single mtDNA deletions are sporadic events, since th
The American Society of Human Genetics.
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8. Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture.
The neurodegeneration and amyloid deposition of sporadic Alzheimer disease (AD) also occur in familial AD and in all trisomy-21 Down syndrome (DS) patients, suggesting a common pathogenetic mechanism. We investigated whether defective processing of damaged DNA might be that mechanism, as postulated for the neurodegeneration in xeroderma pigmentosum, a diseas
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9. Targeted disruption of the Walker–Warburg syndrome gene Pomt1 in mouse results in embryonic lethality
O-mannosylation is an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of protein O-mannosyltransferases. The first mammalian protein O-mannosyltransferase gene described was the human POMT1. Mutations in the hPOMT1 gene are responsible for Walker–Warburg syndrome (WWS), a severe recessive congenital musc
National Academy of Sciences.
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10. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
Mitochondrial long chain fatty acid beta-oxidation provides the major source of energy in the heart. Deficiencies of human beta-oxidation enzymes produce sudden, unexplained death in childhood, acute hepatic encephalopathy, skeletal myopathy, or cardiomyopathy. Long chain 3-hydroxyacyl-CoA dehydrogenase [LCHAD; long-chain-(S)-3-hydroxyacyl-CoA:NAD+ oxidoredu