Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Rosalind Skinner"'
Publikováno v:
Clinical Genetics. 15:444-449
One possible explanation for the apparently high birth incidence of Duchenne muscular dystrophy (DMD), a lethal X-linked disorder, is genetic heterogeneity. As a first step in possibly demonstrating genetic heterogeneity, affected boys were sub-divid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b71c4a7dc7ea3ae81458ffa920dc49e
https://doi.org/10.1111/j.1399-0004.1979.tb01777.x
https://doi.org/10.1111/j.1399-0004.1979.tb01777.x
Autor:
Alan E. H. Emery, Rosalind Skinner
Publikováno v:
Clinical Genetics. 10:189-201
Ten extensive families with benign (Becker type) X-linked muscular dystrophy have been studied, in which there was a total of 67 affected males. Reliable information was available on 41 of these males, 29 of whom were alive at the time of the study.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9312abb40a86ec8bff199c0cda648a4f
https://doi.org/10.1111/j.1399-0004.1976.tb00033.x
https://doi.org/10.1111/j.1399-0004.1976.tb00033.x
Autor:
Alexander M. Davie, Rosalind Skinner, Susan Holloway, Irena Hausmanowa-Petrusewicz, Alan E. H. Emery, Janina Borkowska
Publikováno v:
Journal of the Neurological Sciences. 29:83-94
There is considerable variation in age of onset, though in over three-quarters of cases onset is before 4 years of age. A febrile episode, often of viral origin, may be present at the time of onset and might possibly be of aetiological significance,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::29d34a2b2e82758efc17b490de901663
https://doi.org/10.1016/0022-510x(76)90082-4
https://doi.org/10.1016/0022-510x(76)90082-4
Publikováno v:
Journal of the Neurological Sciences. 30:375-384
Most of the cases in the present study are of the juvenile onset, proximal form of spinal muscular atrophy. The results of the study indicate that the majority of these cases are due to one or more autosomal recessive genes, with very few being inher
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::055083dbbd35a679bd1565c04d724953
https://doi.org/10.1016/0022-510x(76)90141-6
https://doi.org/10.1016/0022-510x(76)90141-6
Publikováno v:
Journal of Medical Genetics. 11:317-320
A family is described in which benign Becker type X-linked muscular dystrophy and deutan colour blindness are segregating. The lod scores from this family have been added to those obtained in a family previously reported (Emery et.al, 1968/1969) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcf559cbd6e07dece05ef331ac4bc698
https://doi.org/10.1136/jmg.11.4.317
https://doi.org/10.1136/jmg.11.4.317
Publikováno v:
Journal of Medical Genetics. 19:1-3
During the period November 1976 to September 1980, 2703 babies born in one Edinburgh hospital were screened in the neonatal period by estimation of their serum creatine kinase levels for Duchenne muscular dystrophy. Among the 2336 male babies tested,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08777dc9d5f7240c29c8fd1af6ef90ae
https://doi.org/10.1136/jmg.19.1.1
https://doi.org/10.1136/jmg.19.1.1
Autor:
David Irvine, Rosalind Skinner
Publikováno v:
Journal of Medical Genetics. 10:337-339
An association of Hirschsprung's disease (congenital intestinal aganglionosis) and profound congenital deafness is described in four unrelated patients and another reported case which was found in the literature. It is suggested that this might repre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbe3c418a58daef5eeecba6a4c48ecc3
https://doi.org/10.1136/jmg.10.4.337
https://doi.org/10.1136/jmg.10.4.337
Publikováno v:
Lancet (London, England). 1(8283)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::889cd207daa0332e6d688b51a7634a1d
https://pubmed.ncbi.nlm.nih.gov/6123008
https://pubmed.ncbi.nlm.nih.gov/6123008
Autor:
Rosalind Skinner, D. Burt
Publikováno v:
Lancet (London, England). 1(8162)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f5b08aacd7b14795c66dbdfe0765b18
https://pubmed.ncbi.nlm.nih.gov/6101726
https://pubmed.ncbi.nlm.nih.gov/6101726
Autor:
Rosalind Skinner, AlanE.H. Emery
Publikováno v:
The Lancet. 304:1023-1024
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b65478f1cd47fad8df8539b59b51700
https://doi.org/10.1016/s0140-6736(74)92130-8
https://doi.org/10.1016/s0140-6736(74)92130-8