Zobrazeno 1 - 8
of 8
pro vyhledávání: '"C. J. Höweler"'
Autor:
Marcel R. Nelen, C. E. M. De Die, H.H. Ropers, B. A. Van Oost, B. Wieringa, G. Jansen, Hubert J.M. Smeets, Willy M. Nillesen, H.G. Brunner, C. J. Höweler
Publikováno v:
New England Journal of Medicine. 328:476-480
Myotonic dystrophy is a multisystem disorder that is transmitted in an autosomal dominant fashion and is characterized by muscular weakness and atrophy, clinical and electromyographic evidence of myotonia, ocular cataract, and various other abnormali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c16af27dd374bb828ccc484ac417ce16
https://doi.org/10.1056/nejm199302183280705
https://doi.org/10.1056/nejm199302183280705
Publikováno v:
Journal of Medical Genetics. 29:791-793
We describe four myotonic dystrophy (DM) patients who developed recurrent intestinal pseudo-obstruction. Some episodes were associated with gastroenteritis, while abdominal crowding may have occurred in one case during the third trimester of pregnanc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::492c6244eb2c5c477a826562244be7c2
https://doi.org/10.1136/jmg.29.11.791
https://doi.org/10.1136/jmg.29.11.791
Publikováno v:
Genetic counseling (Geneva, Switzerland). 6(1)
Various clinical classifications of XLMR have been reported. In a recent review on X-linked mental retardation (XLMR) genes, 127 conditions featuring XLMR as a primary or major manifestation were listed (32). In our clinical departments, we have a sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5066674d5b65d2dc57bddceab422ef24
https://pubmed.ncbi.nlm.nih.gov/7794558
https://pubmed.ncbi.nlm.nih.gov/7794558
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 137(48)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::352609e091e01678fa9b4ce4b92cc221
https://pubmed.ncbi.nlm.nih.gov/8272119
https://pubmed.ncbi.nlm.nih.gov/8272119
Publikováno v:
Brain. 112:779-797
In 1918 Fleischer reported that after transmission from one generation to the next, myotonic dystrophy has an earlier onset and is more severe. The hypothesis put forward by Penrose in 1948 that 'anticipation' is caused by bias of index case selectio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5cd040bb3fc67ec29922d4706dc4932
https://doi.org/10.1093/brain/112.3.779
https://doi.org/10.1093/brain/112.3.779
Autor:
H. F. M. Busch, C. J. Höweler
Publikováno v:
Early Diagnosis and Prevention of Genetic Diseases ISBN: 9789401019323
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9bc2f72466280c08bb8ee0139fea38b9
https://doi.org/10.1007/978-94-010-1930-9_3
https://doi.org/10.1007/978-94-010-1930-9_3
Autor:
R G Pearse, C J Höweler
Five preterm babies with the neonatal form of dystrophia myotonica are reported. In addition to the generally accepted signs and symptoms of the disease, two other features were present in these patients; oedema was notable in all 5 babies and 4 had
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5074e5511754b92749b08486930fd05
https://europepmc.org/articles/PMC1545553/
https://europepmc.org/articles/PMC1545553/
Autor:
C J, Höweler
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 132(23)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::47f01d559bf74be09602b1ab049ac98f
https://pubmed.ncbi.nlm.nih.gov/3386769
https://pubmed.ncbi.nlm.nih.gov/3386769