Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    facet.materialart.
    New York : Garland Press
    Call number: QH447:199(5)
    Keywords: Human molecular genetics ; Molecular Biology
    Pages: xiii, 770 p. : ill.
    Edition: 4th ed.
    ISBN: 9780815345893
    Signatur Availability
    QH447:199(5) available
    BibTip Others were also interested in ...
  • 2
    facet.materialart.
    New York : Garland Press
    Call number: C050:55
    Keywords: Human molecular genetics ; Molecular Biology
    Pages: xxv, 781 p. : ill.
    Edition: 4th rev. ed.
    ISBN: 978-0-8153-4149-9
    Signatur Availability
    C050:55 available
    BibTip Others were also interested in ...
  • 3
    facet.materialart.
    Heidelberg : Spektrum Akad. Verl.
    Call number: H0600:53 ; H0600:65
    Keywords: Human molecular genetics ; Molecular genetics ; Molecular Biology
    Notes: Translation of: Human molecular genetics.
    Pages: xxxix, 743 p. : ill.
    ISBN: 3-8274-0039-2
    Signatur Availability
    H0600:53 departmental collection or stack – please contact the library
    H0600:65 departmental collection or stack – please contact the library
    BibTip Others were also interested in ...
  • 4
    facet.materialart.
    Oxford : BIOS Scientific Publ.
    Call number: H0600:109 ; H0700:50 ; H0900:60 ; C050:2
    Keywords: Human molecular genetics ; Molecular Biology
    Notes: Includes index.
    Pages: xxiii, 576 p. : ill.
    Edition: 2nd ed.
    ISBN: 1-85996-202-5
    Signatur Availability
    H0600:109 departmental collection or stack – please contact the library
    H0700:50 departmental collection or stack – please contact the library
    H0900:60 departmental collection or stack – please contact the library
    C050:2 departmental collection or stack – please contact the library
    BibTip Others were also interested in ...
  • 5
    facet.materialart.
    New York : Garland Press
    Call number: B060:135
    Keywords: Human molecular genetics ; Molecular Biology
    Pages: xxv, 674 p. : ill.
    Edition: 3rd ed.
    ISBN: 0815341849
    Signatur Availability
    B060:135 departmental collection or stack – please contact the library
    BibTip Others were also interested in ...
  • 6
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 7
    ISSN: 1432-1076
    Keywords: Key words Connexin 26 ; Hearing loss ; Melanocyte ; Neural crest ; Waardenburg syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Hereditary deafness is highly heterogeneous genetically, with over 100 loci so far identified. Routine diagnostic mutation screening can be done only when a candidate gene has been identified, and preferably a candidate mutation. For syndromic forms of hearing loss it is often possible to predict the gene involved. Non-syndromic loss is much more intractable to diagnostic mutation screening because of the extensive locus heterogeneity. However, mutations in the connexin 26 (GJB2) gene and the mitochondrial m.1555A > G mutation are sufficiently frequent in some populations to justify mutation testing. Identifying the genes mutated in syndromic hearing loss can help delineate developmental pathways. Conclusion The example of Waardenburg syndrome is used to illustrate how unravelling developmental pathways can be more complicated than defining metabolic pathways through biochemical defects. Developmental genes tend to be organised into networks rather than linear pathways, and transcription factors act in a combinatorial manner. This makes developmental pathways harder to unravel genetically than metabolic pathways.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 8
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary This paper presents three markers, 16D/E, pHMAI (DXS208), and CRI-L1391 (DXS274), that show close linkage for X-linked hypophosphataemic rickets (HYP). DXS274 is closely linked to HYP (θ max= 0.00, Zmax = 4.20), and DXS41 (99.6), (θ max= 0.00, Zmax = 5.20). Marker 16D/E maps distal to the disease locus (θ max= 0.05, Zmax = 3.11). The pHMAI probe recognises the same restriction fragment length polymorphism (RFLP) as 99.6. Multipoint analysis suggests that the most probable order of loci is Xpter-(DXS43, 16D/E)-HYP-DXS274-(DXS208, DXS41)-Xcen. The location of DXS274 distal to HYP cannot be excluded, as no recombinants were observed between DXS274 and HYP, or between DXS274 and DXS41/DXS208. One of the families contains a large number of recombinants, four of which are double recombinants. This most probably means that the disease in this family maps elsewhere on the X chromosome or on an autosome, indicating locus heterogeneity.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 9
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Waardenburg syndrome (WS) type 1 is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary abnormalities of the eye, hair, and skin, and dystopia canthorum. The phenotype is variable and affected individuals may exhibit only one or a combination of several of the associated features. To assess the relationship between phenotype and gene defect, clinical and genotype data on 48 families (271 WS individuals) collected by members of the Waardenburg Consortium were pooled. Forty-two unique mutations in the PAX3 gene, previously identified in these families, were grouped in five mutation categories: amino acid (AA) substitution in the paired domain, AA substitution in the homeodomain, deletion of the Ser-Thr-Pro-rich region, deletion of the homeodomain and the Ser-Thr-Pro-rich region, and deletion of the entire gene. These mutation classes are based on the structure of the PAX3 gene and were chosen to group mutations predicted to have similar defects in the gene product. Association between mutation class and the presence of hearing loss, eye pigment abnormality, skin hypopigmentation, or white forelock was evaluated using generalized estimating equations, which allowed for incorporation of a correlation structure that accounts for potential similarity among members of the same family. Odds for the presence of eye pigment abnormality, white forelock, and skin hypopigmentation were 2, 8, and 5 times greater, respectively, for individuals with deletions of the homeodomain and the Pro-Ser-Thr-rich region compared to individuals with an AA substitution in the homeodomain. Odds ratios that differ significantly from 1.0 for these traits may indicate that the gene products resulting from different classes of mutations act differently in the expression of WS. Although a suggestive association was detected for hearing loss with an odds ratio of 2.6 for AA substitution in the paired domain compared with AA substitution in the homeodomain, this odds ratio did not differ significantly from 1.0.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 10
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The search for the Huntington's disease (HD) gene has prompted construction of a complete long-range restriction map of a 2.5-Mb candidate region, distal to the DNA markerD4S10. To facilitate the procurement of cloned DNA from this candidate region, we have augmented the existing regional mapping panel of somatic cell hybrids with hybrid HHW1071 containing a t(4p16;12) chromosome from a patient with Wolf-Hirschhorn syndrome. This translocation maps betweenD4S180 andD4S127, subdividing theHD candidate region and setting a proximal limit to the Wolf-Hirschhorn syndrome region. Using the expanded mapping panel, we have regionally assigned 14 independently cloned cosmids, five proximal to the t(4;12) breakpoint in the same region asD4S10 and nine distal to the breakpoint. By a combination of overlap with previously mapped cosmids and pulsed-field gel analysis, each of these cosmids has been positioned on the long-range restriction map of 4p16.3, increasing the clone coverage of the candidate region to approximately 40%. Single-copy probes from mapped cosmids were used to identify eight new DNA polymorphisms spanning theHD candidate region. These new DNA markers should prove valuable for analysis of recombination and linkage disequilibrium inHD, as well as for preclinical diagnosis of the disorder.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...