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  • 1
    Electronic Resource
    Electronic Resource
    Twin pregnancy consisting of a complete hydatidiform mole and a fetus: genetic origin determined by DNA typing (1993)
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 100 (1993), S. 0 
    Details
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1471-0528.1993.tb14321.x
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    The crystal and molecular structure of the experimental anticancer agent 2-hydroxy-2-phenyl-1-aziridinoethane (1975)
    Copenhagen : International Union of Crystallography (IUCr)
    Acta crystallographica 31 (1975), S. 1875-1878 
    Details
    ISSN: 1600-5740
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Chemistry and Pharmacology , Geosciences , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1107/S0567740875006401
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  • 3
    Electronic Resource
    Electronic Resource
    N,N'-Bis(3-chloropropionyl)piperazine (1975)
    Copenhagen : International Union of Crystallography (IUCr)
    Acta crystallographica 31 (1975), S. 2544-2546 
    Details
    ISSN: 1600-5740
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Chemistry and Pharmacology , Geosciences , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1107/S0567740875008096
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Prevalence study and molecular characterization of α-thalassemia in Filipinos (1999)
    Springer
    Annals of hematology 78 (1999), S. 355-357 
    Details
    ISSN: 1432-0584
    Keywords: Key words α-Thalassemia ; Filipino deletion ; Southeast Asian deletion ; Filipino
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  In order to determine the prevalence and molecular basis of α-thalassemia (thal) among Filipinos, a total of 2954 Filipinos in Taiwan were enrolled in this study. A complete blood count was done for every subject. Those with microcytosis (MCV less than 82.5 fl) were studied with hemoglobin (Hb) high-performance liquid chromatography to determine the levels of Hb A2 and Hb F, and with an enzyme immunoassay to determine plasma ferritin levels. Those who had microcytosis and normal or low levels of Hb A2 and Hb F were further studied with molecular methods for α-globin gene mutations. We used Southern blot hybridization and/or the polymerase chain reaction to detect Southeast Asian deletion, Filipino deletion, rightward and leftward single α-globin gene deletions, and Hb Constant Spring and Hb Quong Sze. Specific amplification and direct DNA sequencing of the α2- and α1-globin genes were carried out in apparent α-thal carriers without any of the above-mentioned mutations. Our results showed that in Filipinos the prevalence of α-thal 1 was 5% (147 carriers) and that of α-thal 2 was 1.7% (49 carriers); two had Hb H disease. Among the α-thal 1 carriers, 89 had the Southeast Asian deletion and 58 had the Filipino deletion. Among the α-thal 2 carriers, 48 had a rightward deletion and one had a leftward deletion. None had Hb Constant Spring or Hb Quong Sze. Specific amplification and DNA sequencing in five apparent α-thal carriers did not reveal mutations in the 2-kb region spanning the α2- and α1-globin genes. The molecular defects of α-thal in Filipinos were different from those in the neighboring ethnic groups. Elucidation of the α-thal mutations in Filipinos is useful in the genetic counseling and prenatal diagnosis of this common disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002770050528
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  • 5
    Electronic Resource
    Electronic Resource
    Prevalence and molecular characterization of β-thalassemia in Filipinos (1998)
    Springer
    Annals of hematology 77 (1998), S. 257-260 
    Details
    ISSN: 1432-0584
    Keywords: Key words β-Thalassemia ; Filipino deletion of β-globin gene ; Filipino ; Genetic counseling
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  β-Thalassemia (thal) is a common single-gene disease worldwide. However, the prevalence of β-thal and the spectrum of β-globin gene mutations in Filipinos remain unclear. This study sought to answer these two questions. A total of 2954 apparently healthy Filipinos in Taiwan were recruited for a prevalence study. A complete blood count was done in every subject. Those with microcytosis were studied with hemoglobin (Hb) high-performance liquid chromatography to determine the levels of Hb A2 and Hb F. Twenty-seven subjects had elevated levels of Hb A2 (〉4.0%). These 27 suspected β-thal carriers and another 16 β-thal major patients who were being treated in the Philippines were studied to determine the spectrum of β-globin gene mutations. Gap-PCR was used to detect the Filipino deletion of β-thal, and direct sequencing was used to detect point or small mutations in the β-globin gene. All of the 27 suspected β-thal carriers had one mutation in the β-globin gene, resulting in an overall prevalence of 0.9%. The spectrum of β-thal mutations was similar in the carrier and patient groups. Analysis of the pooled identified seven different mutations in the study population. The Filipino deletion was the most common mutation, accounting for 45.8% (27/59) of the alleles, followed by codon 67 (–TG) (16 alleles), and Hb E (11 alleles). These three mutations accounted for 92% of the Filipino β-thal alleles. Elucidation of the β-thal mutations in Filipinos is useful for the genetic counseling and prenatal diagnosis of this disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002770050454
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  • 6
    Electronic Resource
    Electronic Resource
    Amniocentesis in mothers who are hepatitis B virus carriers does not expose the infant to an increased risk of hepatitis B virus infection (1994)
    Springer
    Archives of gynecology and obstetrics 255 (1994), S. 25-30 
    Details
    ISSN: 1432-0711
    Keywords: Key words: Hepatitis B virus – Genetic amniocentesis – Intrauterine infection
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Sixty-seven pairs of mothers with hepatitis B virus (HBV) surface antigen (HBsAg) and their infants were divided into two study groups to determine the effect of amniocentesis on intrauterine HBV infection. In the first study group (35 pairs), the infant's HBsAg status in cord blood was studied and the results were compared with those obtained in the cord blood from 65 infants born to HBsAg-positive women who did not have an amniocentesis. In the second study group (32 pairs), the HBV status of the infants was studied at the age of three months to five years and compared with the HBV status of 3,454 infants in the National HBV Prevention Program. In the first study group, one sample (2.9%) was weakly positive for HBsAg; while in the first control group, two (3.1%) were positive. In the second study group, three (10%) infants were positive for HBsAg. The failure rates of immunoprophylaxis in the second study and control groups were similar (9.4% vs 11% for HBsAg carrier mothers; 30% vs 14% for HBe antigen-positive carrier mothers). This suggested that genetic amniocentesis did not increase the risk of intrauterine HBV infection.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004040050021
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  • 7
    Electronic Resource
    Electronic Resource
    Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism (1994)
    Springer
    Archives of gynecology and obstetrics 255 (1994), S. 213-216 
    Details
    ISSN: 1432-0711
    Keywords: Key words: Trisomy 21 ; Mosaicism ; DNA polymorphism analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract.  A family with three children who had Down's syndrome and one healthy child is reported. Cytogenetic studies of the peripheral blood revealed trisomy 21 in the affected children, and normal karyotypes in both the parents and the healthy child. However, a biopsy of the mother's right ovary showed a mosaic trisomy 21 cell line (8/20 cells). By DNA polymorphism analysis, segregation of trisomy oogonia appeared to be the cause of recurrent trisomy 21.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004040050055
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  • 8
    Electronic Resource
    Electronic Resource
    Prenatal diagnosis by transabdominal chorionic villus sampling in the second and third trimesters (1995)
    Springer
    Archives of gynecology and obstetrics 256 (1995), S. 193-197 
    Details
    ISSN: 1432-0711
    Keywords: Chorionic villus sampling ; Prenatal diagnosis ; Single gene disease ; Chromosome anomaly
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract From October 1989 through December 1993, 124 pregnant women (114 in the second trimester and 10 in the third trimester) underwent transabdominal chorionic villus sampling (CVS) for prenatal molecular or cytogenetic diagnosis. The mean gestational age was 18.2 weeks. Indications for CVS comprised single gene disease (72%), fetal anomalies detected by ultrasound (17%), advanced maternal age (6%), and previous siblings with chromosomal aberration (5%). Among the 89 fetuses at risk for single gene disease, 20 were diagnosed as affected by DNA analysis. Among the 35 fetuses at risk for chromosomal anomaly, 4 had trisomy, 3 had a 45, XO karyotype and 2 had a structural chromosomal abnormality. The miscarriage rate was 1.8% (2/114) and the spontaneous preterm birth rate was 2.4% (3/124). No maternal or other fetal complications occurred. This study suggested that second- and third trimester CVS is a safe and useful method for prenatal diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00634491
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  • 9
    Electronic Resource
    Electronic Resource
    Prenatal diagnosis by transabdominal chorionic villus sampling in the second and third trimesters (1995)
    Springer
    Archives of gynecology and obstetrics 256 (1995), S. 193-197 
    Details
    ISSN: 1432-0711
    Keywords: Key words: Chorionic villus sampling ; Prenatal diagnosis ; Single gene disease ; Chromosome anomaly
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. From October 1989 through December 1993, 124 pregnant women (114 in the second trimester and 10 in the third trimester) underwent transabdominal chorionic villus sampling (CVS) for prenatal molecular or cytogenetic diagnosis. The mean gestational age was 18.2 weeks. Indications for CVS comprised single gene disease (72%), fetal anomalies detected by ultrasound (17%), advanced maternal age (6%), and previous siblings with chromosomal aberration (5%). Among the 89 fetuses at risk for single gene disease, 20 were diagnosed as affected by DNA analysis. Among the 35 fetuses at risk for chromosomal anomaly, 4 had trisomy, 3 had a 45,XO karyotype and 2 had a structural chromosomal abnormality. The miscarriage rate was 1.8% (2/114) and the spontaneous preterm birth rate was 2.4% (3/124). No maternal or other fetal complications occurred. This study suggested that second- and third trimester CVS is a safe and useful method for prenatal diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00634491
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    Paper (German National Licenses)
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  • 10
    Electronic Resource
    Electronic Resource
    Amniocentesis in mothers who are hepatitis B virus carriers does not expose the infant to an increased risk of hepatitis B virus infection (1994)
    Springer
    Archives of gynecology and obstetrics 255 (1994), S. 25-30 
    Details
    ISSN: 1432-0711
    Keywords: Hepatitis B virus ; Genetic amniocentesis ; Intrauterine infection
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Sixty-seven pairs of mothers with hepatitis B virus (HBV) surface antigen (HBsAg) and their infants were divided into two study groups to determine the effect of amniocentesis on intrauterine HBV infection. In the first study group (35 pairs), the infant's HBsAg status in cord blood was studied and the results were compared with those obtained in the cord blood from 65 infants born to HBsAg-positive women who did not have an amniocentesis. In the second study group (32 pairs), the HBV status of the infants was studied at the age of three months to five years and compared with the HBV status of 3,454 infants in the National HBV Prevention Program. In the first study group, one sample (2.9%) was weakly positive for HBsAg; while in the first control group, two (3.1%) were positive. In the second study group, three (10%) infants were positive for HBsAg. The failure rates of immunoprophylaxis in the second study and control groups were similar (9.4% vs 11% for HBsAg carrier mothers; 30% vs 14% for HBe antigen-positive carrier mothers). This suggested that genetic amniocentesis did not increase the risk of intrauterine HBV infection.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02390671
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    Paper (German National Licenses)
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