Zobrazeno 1 - 10
of 24
pro vyhledávání: '"G. W. Padberg"'
Publikováno v:
Musclenerve. Supplement. (2)
Extrapolating the figures from a previous study on FSHD in a province of The Netherlands to the entire Dutch population suggests that at present a nearly complete overview is obtained of all symptomatic kindred. In 139 families, dominant inheritance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::465fd56682aa3ae900eb5b4491f36105
https://pubmed.ncbi.nlm.nih.gov/23573591
https://pubmed.ncbi.nlm.nih.gov/23573591
Publikováno v:
Musclenerve. Supplement. (2)
We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen norma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4a2c9ede9111614ac27906223c350323
https://pubmed.ncbi.nlm.nih.gov/23573589
https://pubmed.ncbi.nlm.nih.gov/23573589
Publikováno v:
Nederlands tijdschrift voor tandheelkunde. 117(1)
Facioscapulohumeral muscular dystrophy is clinically mainly characterized by progressive weakness of the facial, shoulder and upper arm muscles. It is an autosomal dominant heriditary disease, caused by a contraction of a repetitive DNA element at th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b36cfdbb93f783aacbdba7458c9f05f2
https://pubmed.ncbi.nlm.nih.gov/20180344
https://pubmed.ncbi.nlm.nih.gov/20180344
Autor:
N C, Voermans, M, Guillard, R, Doedée, M, Lammens, M, Huizing, G W, Padberg, R A, Wevers, B G, van Engelen, D J, Lefeber
Publikováno v:
Clinical neuropathology. 29(2)
We present a comprehensive report of two siblings with hereditary inclusion body myopathy (HIBM). The clinical features and histological characteristics of the muscle biopsies showed the typical pattern of predominantly distal vacuolar myopathy with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ab70a9f304ffee3ed63645a37c7b9c32
https://pubmed.ncbi.nlm.nih.gov/20175955
https://pubmed.ncbi.nlm.nih.gov/20175955
Publikováno v:
Journal of Neurology. 239:107-111
A large family with adrenoleukodystrophy is described and the case histories of two clinically symptomatic and related male patients are presented. Clinical, biochemical and genetic screening of their family demonstrated two clinically affected males
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::745aeb07c0dade45fa3a88a148d28970
https://doi.org/10.1007/bf00862985
https://doi.org/10.1007/bf00862985
Publikováno v:
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology. 7(5)
Fluorescence in-situ hybridization (FISH) has been used to study the spatial orientation of subtelomeric chromosome regions in the interphase nucleus. Compared to interstitial chromosomal sites, subtelomeres showed an increased number of somatic pair
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::21eff0cf7e98caff22369d6cba31b5f9
https://pubmed.ncbi.nlm.nih.gov/10515207
https://pubmed.ncbi.nlm.nih.gov/10515207
Publikováno v:
Clinical neurology and neurosurgery. 99(2)
Autosomal dominant familial spastic paraparesis (AD-FSP) is a genetically heterogeneous disorder of the central nervous system characterized by a progressive spasticity of the legs. One gene causing AD-FSP (FSP1) has recently been mapped to chromosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e46925625d3c0e7ed64c40741a634b8
https://pubmed.ncbi.nlm.nih.gov/9213050
https://pubmed.ncbi.nlm.nih.gov/9213050
Publikováno v:
Cancer research. 57(3)
The susceptibility gene for Cowden disease (CD), an autosomal dominant inherited cancer syndrome, has recently been mapped to an approximately 6-cM interval on chromosome subband 10q22-23 between the markers D10S541 and D10S564. CD is characterized b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a9a0805f379a3bb60710385aee9b353b
https://pubmed.ncbi.nlm.nih.gov/9012481
https://pubmed.ncbi.nlm.nih.gov/9012481
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 139(38)
Hyperekplexia or startle disease was diagnosed in four patients, a girl of 14 months, two men of 45 and 61 years old, and a woman of 56 years old. This is an autosomal dominant inherited disorder, characterized by excessive startle reactions, notably
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5e5c6a575dced905c1709f2974874541
https://pubmed.ncbi.nlm.nih.gov/8628445
https://pubmed.ncbi.nlm.nih.gov/8628445