Island Syndrome
Mostrando 13-24 de 45 artigos, teses e dissertações.
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13. Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome.
We report five patients with ectodermal dysplasia, ectrodactyly associated with syndactyly or cleft hand or both, and, in addition, macular dystrophy which was presumed to be progressive, in an isolated population on a remote island in Japan. The heredity of this syndrome was thought to be autosomal recessive. Three cases have been reported so far with a com
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14. Carpal tunnel syndrome: what is attributable to work? The Montreal study.
OBJECTIVE: To estimate the fraction of carpal tunnel syndrome (CTS) that is attributable to work in the total adult population of the island of Montreal. METHODS: The population consisted of 1.1 million people 20-64 years of age, with 73.2% of men and 60.6% of women employed. The rates of first surgery for CTS were compared between occupational groups and th
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15. The savant syndrome: an extraordinary condition. A synopsis: past, present, future
Savant syndrome is a rare, but extraordinary, condition in which persons with serious mental disabilities, including autistic disorder, have some ‘island of genius’ which stands in marked, incongruous contrast to overall handicap. As many as one in 10 persons with autistic disorder have such remarkable abilities in varying degrees, although savant syndro
The Royal Society.
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16. Sequencing and Functional Analysis of the SNRPN Promoter: In Vitro Methylation Abolishes Promoter Activity
The gene encoding the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) maps to the Prader–Willi syndrome critical region on chromosome 15 and is expressed preferentially from the paternal allele. A CpG island encompassing the first exon of SNRPN is methylated on the inactive maternal allele. DNA sequence was determined for a cosmid containi
Cold Spring Harbor Laboratory Press.
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17. Molecular cloning and analysis of the fragile X region in man.
The fragile X syndrome (FraX), the most common inherited form of mental retardation, has been located to Xq27.3. As a step in the molecular analysis of this mutation, we have cloned a contiguous 1.8 Mb region containing the entire fragile X region in YAC and cosmid clones. The cloned area defines a region of 50 kb containing a CpG island, found to be selecti
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18. Characterization of a Putative Pathogenicity Island from Bovine Staphylococcus aureus Encoding Multiple Superantigens
Previous studies have demonstrated that a proportion of Staphylococcus aureus isolates from bovine mastitis coproduce toxic shock syndrome toxin (TSST) and staphylococcal enterotoxin C (SEC). In this study, molecular genetic analysis of one such strain, RF122, revealed the presence of a 15,891-bp putative pathogenicity island (SaPIbov) encoding the genes for
American Society for Microbiology.
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19. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndrome
Loss of imprinting at IGF2, generally through an H19-independent mechanism, is associated with a large percentage of patients with the overgrowth and cancer predisposition condition Beckwith–Wiedemann syndrome (BWS). Imprinting control elements are proposed to exist within the KvLQT1 locus, because multiple BWS-associated chromosome rearrangements disrupt
The National Academy of Sciences.
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20. Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region.
The Miller-Dieker syndrome (MDS), composed of characteristic facial abnormalities and a severe neuronal migration disorder affecting the cerebral cortex, is caused by visible or submicroscopic deletions of chromosome band 17p13. Twelve anonymous DNA markers were tested against a panel of somatic cell hybrids containing 17p deletions from seven MDS patients.
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21. Evidence for a Hybrid Genomic Island in Verocytotoxin-Producing Escherichia coli CL3 (Serotype O113:H21) Containing Segments of EDL933 (Serotype O157:H7) O Islands 122 and 48
Genomic O island 122 (OI-122) of the verocytotoxin-producing Escherichia coli (VTEC) strain EDL933 contains four putative virulence genes, Z4321, Z4326, Z4332, and Z4333. However, strain CL3 (serotype O113:H21) contains only Z4321, not the other three genes. To determine whether Z4321 is part of a different genomic island in CL3, a region of 27,293 bp up- an
American Society for Microbiology.
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22. Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.
The main mutation responsible for the fragile X syndrome is the expansion of an untranslated CGG repeat in the first exon of the FMR1 gene, associated with the hypermethylation of the proximal CpG island and the CGG repeat region, and repression of transcription of FMR1. Fragile X syndrome mosaicism has been described as the coexistence of the full mutation
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23. Characterization of Staphylococcus aureus Enterotoxin L
Staphylococcus aureus causes a wide variety of diseases. Major virulence factors of this organism include enterotoxins (SEs) that cause both food poisoning and toxic shock syndrome. Recently, a novel SE, tentatively designated SEL, was identified in a pathogenicity island from a bovine mastitis isolate. The toxin had a molecular weight of 26,000 and an isoel
American Society for Microbiology.
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24. Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.
The fragile X syndrome is caused by an expanded CGG repeat (> 200 units, full mutation) at the 5' end of the FMR1 gene, which is associated with methylation of a CpG island upstream of the FMR1 gene and down regulation of the transcription. We describe three related males with full mutations in the FMR1 gene, as defined by size, but with different percentage