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  • 1
    Electronic Resource
    Electronic Resource
    Wither polygenic inheritance: Mapping Hirschsprung disease (1993)
    [s.l.] : Nature Publishing Group
    Nature genetics 4 (1993), S. 325-326 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] There are numerous reasons why two papers describing a gene locus for Hirschsprung disease (HSCR) on human chromosome 10, in this issue ofNature Genetics, should be of broad interest. First, they mark one of the first successful attempts to localize a single gene for a complex disorder hitherto ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0893-325
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  • 2
    Electronic Resource
    Electronic Resource
    Dissecting Hirschsprung disease (2002)
    [s.l.] : Nature Publishing Group
    Nature genetics 31 (2002), S. 11-12 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] In complex (multifactorial or multigenic) disorders, it has not so far been possible to identify the particular contributions of individual genes, making it difficult to correlate genotype with phenotype. In an accompanying paper, Stacey Bolk Gabriel and colleagues offer an innovative solution to ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng878
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  • 3
    Electronic Resource
    Electronic Resource
    Incorrect use of the term synteny (1999)
    [s.l.] : Nature America Inc.
    Nature genetics 23 (1999), S. 387-387 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] The term 'synteny' (or syntenic) refers to gene loci on the same chromosome regardless of whether or not they are genetically linked by classic linkage analysis. This term was introduced in 1971 by John H. Renwick, of the London School of Hygiene and Tropical Medicine, at the 4th Internal ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/70486
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  • 4
    Electronic Resource
    Electronic Resource
    A DNA helicase in full Bloom (1995)
    [s.l.] : Nature Publishing Group
    Nature genetics 11 (1995), S. 356-357 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Bloom syndrome is unique among the 3,000 or so monogenic human diseases. It involves severe prenatal and postnatal growth deficiency (the average birthweight is a mere 1.9 kg and adult height 145 cm) as well as predisposition to different types of malignant and benign tumours, variable immune ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng1295-356
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  • 5
    Electronic Resource
    Electronic Resource
    German job security leads to stagnation ... (1999)
    [s.l.] : Macmillan Magazines Ltd.
    Nature 397 (1999), S. 467-468 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Sir Your editorial and News report touch on fundamental problems that have beset German universities for a long time (Nature 396, 393; 1998 & Nature 396, 396; 1998 ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/17196
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  • 6
    Electronic Resource
    Electronic Resource
    Das Nierenbeckengefäßsystem als extraglomerulärer Blutweg (1960)
    Springer
    Anatomy and embryology 122 (1960), S. 86-113 
    Details
    ISSN: 1432-0568
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00526610
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  • 7
    Electronic Resource
    Electronic Resource
    Autoradiographic studies of human chromosomes (1969)
    Springer
    Chromosoma 28 (1969), S. 37-47 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Chromosomal sites of DNA synthesis during the final 30 minutes or less of the S-phase of the cell division cycle of fibroblasts were delinated autoradiographically. Very light labeling was found, indicating that a recognizable but very minor portion of the cell's DNA is synthesized during a few minutes at the extreme end of S. This interval immediately follows those periods near the end of S when prominent synthetic asynchrony exists in different chromosomal regions. A non-random distribution of label, but one different from the more familiar end-of-S pattern, was detected during this final interval. The late-replicating X was less heavily labeled than some autosomes during the final minutes of S, while sites in chromosome No. 3 were somewhat more heavily labeled than those in other chromosomes. The biological significance of these minute, last-to-replicate chromosomal regions is unknown.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00325988
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  • 8
    Electronic Resource
    Electronic Resource
    Everything the pediatrician ever wanted to know about HLA but was afraid to ask (1980)
    Springer
    European journal of pediatrics 133 (1980), S. 93-100 
    Details
    ISSN: 1432-1076
    Keywords: HLA ; Histocompatibility antigens ; Primed lymphocyte typing (PLT) ; Disease associations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Following a description of the genetic aspects of the human histocompatibility antigen system HLA and its principle typing methods, this paper reviews the relationship between HLA antigens, transplantation immunology and certain diseases. In particular, the role of the lymphocyte-defined antigens of the HLA-D system is emphasized on the basis of a special typing method, the PLT test, used in our laboratory. Aside from its necessity in bone marrow and kidney transplantation, HLA typing can be used as an additional diagnostic or prognostic tool for certain diseases. Among the pediatric age group, this includes rheumatic fever and other rheumatic diseases, insulin-dependent juvenile diabetes mellitus, some forms of Addison's disease, thyrotoxicosis, myasthenia gravis, celiac disease, and some complement deficiency disorders. Close linkage of the HLA system with steroid 21-hydroxylase deficiency has made it possible to diagnose this form of congenital adrenal hyperplasia in utero. This approach is illustrated in a large family at risk for this disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441576
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  • 9
    Electronic Resource
    Electronic Resource
    Human chromosomal deficiency: The 4p- syndrome (1970)
    Springer
    Human genetics 〈Berlin〉 10 (1970), S. 51-57 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenjassung Beschreibung eines $$3{\raise0.5ex\hbox{$\scriptstyle 1$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle 2$}}$$ jährigen Jungen mit einer partiellen Deletion des kurzen Armes von Chromosom 4 (4p--Syndrom). Geburtsgewicht von 1880 g nach 39 Wochen Schwangerschaftsdauer. Ein kongenitaler Herzdefekt, Hypospadie, ein cerebrales Anfallsleiden sowie eine schwere Gedeihstörung veranlaßten die klinische Verdachtsdiagnose. Die Größe der Deletion betrug nur etwa ein Fünftel der Länge des kurzen Armes in zwei untersuchten Geweben. Autoradiographische Untersuchungen zeigten, daß die Deletion Chromosom 4 betraf.
    Notes: Summary Description of a $$3{\raise0.5ex\hbox{$\scriptstyle 1$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle 2$}}$$ year old boy with a partial deletion of the short arm of chromosome 4 (4p- syndrome). The clinical diagnosis was suggested by birth weight of 1880 g at term, congenital heart defect, hypospadias, seizures, and severe failure to thrive. The size of the deletion was only about one fifth of the length of the short arm in two tissues examined. Autoradiographic studies showed the deleted chromosome to be chromosome 4.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00297640
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  • 10
    Electronic Resource
    Electronic Resource
    Derivative chromosomal structures from a ring chromosome 4 (1975)
    Springer
    Human genetics 〈Berlin〉 28 (1975), S. 9-23 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Die Lymphocyten eines Patienten mit Ringchromosom 4 wurden in der Meta-, Ana-und Interphase beobachtet. 90,1% der Metaphasen wiesen einen Ring auf. Besondere Aufmerksamkeit wurde abnormen, aus dem Ring entstandenen Chromosomen zugewandt. Es fanden sich u. a.: partielle Doppel-und Dreifachringe, Ringe mit 3 Zentromeren, Ringe aus 3 miteinander verketteten Ringen, stabförmige Chromosomen und “pulverisierte” Ringe. Die Symptome des Patienten (Minderwuchs, Schwachsinn, Hypoplasie der Daumen, Ptosis palpebrae, Hypoplasie des äußeren genitale, abnorme Dermatoglyphen) waren zum größten Teil unspezifish.
    Notes: Summary This report describes the results from cultured lymphocytes studied at metaphase, anaphase, and interphase from an individual with a ring chromosome 4. A ring was present in 90.1% of metaphases. Special attention was directed towards the occurrence of derivative chromosomal structures, such as partially duplicated and triplicated rings, tricentric rings, chains of 3 interlocked rings, rod-shaped chromosomes, “pulverized” rings, and others. The clinical features of the individual (small stature and impaired mental development, hypoplastic thumbs, ptosis palpebrae hypoplastic external male genitalia, abnormal dermatoglyphic pattern) did not conform to a specific phenotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00272478
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