Library

feed icon rss

Your email was sent successfully. Check your inbox.

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

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 118 (1974), S. 225-229 
    ISSN: 1432-1076
    Keywords: Antenatal diagnosis ; Enzyme assay ; MSUD ; Recessive inheritance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wurde eine pränatale Diagnostik auf Ahornsirupkrankheit bei einer Frau mit zwei an dieser Erkrankung verstorbenen Kindern durchgeführt. Mit einer relativ einfachen Methode konnten wir feststellen, daß die kultivierten Amnionzellen (weiblicher Karyotyp) im Vergleich mit den Kontrollen keine veränderten Enzymaktivitäten zeigten. Die Geburt eines weiblichen, gesunden Säuglings bestätigte unser Ergebnis.
    Notes: Abstract Antenatal diagnosis of MSUD was carried out in a family with 2 known MSUD cases. By means of a relatively simple method we were able to show that the enzyme activity of the cultivated amnion cells (female karyotype) was not lower than the activities of the control cells. The birth of a healthy girl confirmed our result.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 144 (1986), S. 503-504 
    ISSN: 1432-1076
    Keywords: Hypospadias ; Paracentric inversion of chromosome 14
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Abnormalities of chromosome 14 are encountered infrequently in clinical cytogenetics and only few studies of paracentric inversion have been published. This paper reports the first case of hypospadias associated with paracentric inversion of chromosome 14.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 3
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Cancer Genetics and Cytogenetics 29 (1987), S. 319-321 
    ISSN: 0165-4608
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A female infant with multiple congenital anomalies is presented. Cytogenetic study revealed the presence of a de novo, supernumerary, small telocentric chromosome exhibiting the banding pattern of the short arm of chromosome no. 10 [47,XX,+10p(pter→cen)]. Her clinical features were compatible with the 10p trisomy syndrome. Hexokinase (HK-1) activity was elevated in the patient's erythrocytes, which is consistent with an assignment of HK-1 to 10pter→cen10. The absence of a gene dosage effect for inorganic pyrophosphatase (PP) in this study indicates exclusion of PP from 10pter →cen10, and therefore implies a regional assignment of cen10→10q24 for PP. Adenosine kinase (ADK) activity was within control limits, which is consistent with exclusion of ADK from 10pter→cen10.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 75 (1987), S. 84-87 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two cases of familial paracentric inversion, one in the long arm of chromosome 2 and the other in the long arm of chromosome 8, are described. The first was ascertained in a woman who was studied because of recurrent abortions. The second was ascertained in the father of a girl with the trichorhinophalangeal syndrome and an interstitial deletion in 8q. The latter is the first case in which unequal crossing over in an inversion loop can be inferred in a male carrier of a paracentric inversion. The reasons for the relatively low frequency of paracentric inversions observed and factors which affect the pregnancy outcome are discussed.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 21 (1974), S. 283-286 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Eine Deletion des kurzen Armes des Chromosoms Nr. 15 — del(15) (q11) — wurde bei einem 13jährigen Mädchen mit der klinischen Diagnose Anorexia nervosa gefunden. Die gleiche chromosomale Besonderheit wurde ebenfalls bei dem Vater gefunden, der jedoch phänotypisch unauffällig ist.
    Notes: Summary A short arm deletion of chromosome No. 15 — del(15)(q11) — was detected in a 13-year-old girl with the clinical diagnosis of anorexia nervosa. The same marker chromosome was also found in the father, who is phenotypically inconspicuous.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 50 (1979), S. 339-340 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 62 (1982), S. 113-116 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Paracentric inversion of chromosome 7 was found in a female infant with multiple malformations and in her phenotypically normal mother. Examination of prometaphase chromosomes revealed an additional small dark band on the inverted chromosome 7 of the girl. It was assumed that an unequal crossing over at the base of a meiotic loop of chromosome 7 had occurred in the mother and resulted in a tiny interstitial duplication in the girl.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 13 (1971), S. 166-170 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung An je 100 Mitoseplatten einer männlichen und weiblichen Fibroblastenkultur wurden nach zirkulärer Transformation die Abstandquadrate der einzelnen Chromosomenpaare zum Zentrum der Platte gemessen. Es ergibt sich eine signifikante Zuordnung der großen Chromosomen zur Peripherie, der kleinen Chromosomen zur inneren Zone der Mitoseplatte.
    Notes: Summary The square distances of chromosome centromeres to the center of the mitosis plate, after circular transformation, were measured on each 100 mitosis plates of cultured fibroblasts from a man and a woman. It is proved statistically, that the larger chromosomes are located more in the periphery than the smaller chromosomes.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 23 (1974), S. 213-217 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Bei einem Neugeborenen, das klinisch durch multiple Mißbildungen auffiel, wurde ein akrozentrisches Extrachromosom gefunden, das kleiner war als die Chromosomen der G-Gruppe. Mit Hilfe der Q-,C- und G-Bandentechnik ließ sich das überzählige Chromosom als kurzer Arm des Chromosom 17 in der E-Gruppe einordnen.
    Notes: Summary The chromosome analysis of a female newborn with multiple malformations revealed an extra, small acrocentric chromosome that is smaller than the G-group chromosomes. Using special staining techniques, we identified the extra chromosome as the short arm of chromosome 17.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...