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Report of the committee on clinical disorders, chromosome aberrations and uniparental disomy


Frézal, J; Schinzel, Albert; Neil, D L (1991). Report of the committee on clinical disorders, chromosome aberrations and uniparental disomy. Cytogenetic and Genome Research, 58(3-4):986-1052.

Abstract

There are more than 550 loci which have been associated with clinical disorders. Since HGM10.5, this number has been increased by 93 new entries belonging to all categories, from inborn errors of metabolism to congenital anomalies. In this report, we shall limit ourselves to hereditary diseases and congenital disorders and mention some constitutional liabilities to common diseases. We only list the references pertinent to the clinical disorders associated with mapped genes and not those relating to their assignment. Furthermore, we do not list the references already included in the preceeding reports (HGM10, HGM10.5)

Abstract

There are more than 550 loci which have been associated with clinical disorders. Since HGM10.5, this number has been increased by 93 new entries belonging to all categories, from inborn errors of metabolism to congenital anomalies. In this report, we shall limit ourselves to hereditary diseases and congenital disorders and mention some constitutional liabilities to common diseases. We only list the references pertinent to the clinical disorders associated with mapped genes and not those relating to their assignment. Furthermore, we do not list the references already included in the preceeding reports (HGM10, HGM10.5)

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Life Sciences > Genetics
Life Sciences > Cell Biology
Uncontrolled Keywords:Genetics (clinical), Genetics, Molecular Biology, uniparental disomy
Language:English
Date:1 January 1991
Deposited On:27 Sep 2023 16:55
Last Modified:30 May 2024 01:46
Publisher:Karger
ISSN:1424-8581
OA Status:Closed
Publisher DOI:https://doi.org/10.1159/000133716
PubMed ID:1685704
Other Identification Number:Corpus ID: 85031217