Zobrazeno 1 - 10
of 189
pro vyhledávání: '"Laurence KM"'
Autor:
Laurence Km
Publikováno v:
Developmental Medicine & Child Neurology. 11:23-30
A study carried out in South Wales of neural tube malformations is described in order to shed light on the genetics of this abnormality as well as to provide information for genetic counseling. Because twin data have suggested that factors other than
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be37e8754066c3b27e70e8a20df625b4
https://doi.org/10.1111/j.1469-8749.1969.tb09240.x
https://doi.org/10.1111/j.1469-8749.1969.tb09240.x
Publikováno v:
Journal of Medical Genetics. 18:470-473
A malformed male infant with pure partial trisomy 12q (q24.1 leads to qter), resulting from an unbalanced segregation of a paternal balanced translocation t(2;12)(q37;q24.1), is described. The cytogenetic and clinical abnormalities of the proband are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9dd9d0aaaa13cc68ef39cfd70686831
https://doi.org/10.1136/jmg.18.6.470
https://doi.org/10.1136/jmg.18.6.470
Autor:
Laurence Km
Publikováno v:
European Journal of Pediatric Surgery. 40:58-60
Neural tube defects, anencephaly and spina bifida (including encephalocele) have been the major malformation problem in South Wales. Births of affected offspring of residents of Mid and South Glamorgan between 1956 and June 1985 were ascertained from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6404e767826cf6449f1320126407e5e8
https://doi.org/10.1055/s-2008-1059771
https://doi.org/10.1055/s-2008-1059771
The authors describe a pair of twins, one of whom showed acardia while the other had severe neural tube defect including anencephaly. This is the first observation of a fetal malformation (anencephaly) in the cotwin of an acardius and confirms the fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46fa513c4d163ad97cd33ab429b8431c
http://hdl.handle.net/20.500.11769/30366
http://hdl.handle.net/20.500.11769/30366
Publikováno v:
Human genetics. 75(2)
A mentally retarded male was found to be homozygous for a paracentric inversion of the long arm of chromosome 12(inv(12)(q21.1q23.2)). His parents, who are first cousins, and his phenotypically normal younger brother are inversion heterozygotes. Homo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20d212aff46a07db1dc542898e99af11
https://pubmed.ncbi.nlm.nih.gov/3546078
https://pubmed.ncbi.nlm.nih.gov/3546078
Autor:
Laurence Km
Publikováno v:
Zeitschrift fur Kinderchirurgie : organ der Deutschen, der Schweizerischen und der Osterreichischen Gesellschaft fur Kinderchirurgie = Surgery in infancy and childhood. 39
Congenital hydrocephalus is a relatively uncommon abnormality in population malformation surveys accounting for between four and ten out of every 10,000 births. In 30%, it is caused by aqueduct stenosis. The majority of cases have a multifactorial ae
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6deb9a28c387e6c5ed68df339257a1a
https://pubmed.ncbi.nlm.nih.gov/6524107
https://pubmed.ncbi.nlm.nih.gov/6524107
Publikováno v:
Cytogenetics. 2
A case of a chromatin positive, mentally deficient 51 year old male who is clinically an example of Klinefelter’s syndrome and has a sex chromosome constitution of XXYY is described. He has some of the features of the four cases previously describe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eb8e24d56e36045689ca098bbdf59dc
https://pubmed.ncbi.nlm.nih.gov/14042839
https://pubmed.ncbi.nlm.nih.gov/14042839
Autor:
Lloyd J, Laurence Km
Publikováno v:
European Journal of Pediatric Surgery. 38:98-99
The study was undertaken to demonstrate the reactions to termination of pregnancy for genetic reasons and to examine follow up services that are available. Women resident in Mid Glamorgan who had experienced a termination of pregnancy between 1977 an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::539e8b7aaf4659be335a719fb14c51c5
https://doi.org/10.1055/s-2008-1063089
https://doi.org/10.1055/s-2008-1063089
Autor:
Laurence Km
Publikováno v:
Proceedings of the Royal Society of Medicine. 60:1265-1266
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe550193fa26a4143e9d2c8a4485e35b
https://doi.org/10.1177/003591576706001209
https://doi.org/10.1177/003591576706001209
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