Zobrazeno 1 - 10
of 82
pro vyhledávání: '"R R, Frants"'
Autor:
P Lombardi, E J Sijbrands, K van de Giessen, A H Smelt, J J Kastelein, R R Frants, L M Havekes
Publikováno v:
Journal of Lipid Research, Vol 36, Iss 4, Pp 860-867 (1995)
Familial hypercholesterolemia (FH) results from mutations in the low density lipoprotein receptor (LDLR) gene. We applied denaturing gradient gel electrophoresis (DGGE) to screen for sequence variations in the coding and splice site consensus sequenc
Externí odkaz:
https://doaj.org/article/1db1e2cb6d474bea9a1b9a9b0516e091
Publikováno v:
Journal of Lipid Research, Vol 29, Iss 12, Pp 1621-1627 (1988)
Recently, we determined the apolipoprotein E (apoE) phenotype distribution in 2,000 randomly selected 35-year-old male individuals by slab gel isoelectric focusing of delipidated plasma samples, followed by immunoblotting using anti-apoE antiserum. T
Externí odkaz:
https://doaj.org/article/a8db4cde2e664fb1a21ae81c0d771e89
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:
Theoretical and Applied Genetics. 89:403-406
We have estimated the incidence of microand mini-satellites in the dog genome. A genomic phage library from canine liver, with an average insert size of 16 kb, was screened to detect potentially polymorphic microand mini-satellite sequences, which ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9af36796f33220b8433a40d0b8dbc3b2
https://doi.org/10.1007/bf00225373
https://doi.org/10.1007/bf00225373
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:
P M C, Callenbach, E H, van den Boogerd, R F M, de Coo, R, ten Houten, J C, Oosterwijk, G, Hageman, R R, Frants, O F, Brouwer, A M J M, van den Maagdenberg
Publikováno v:
Clinical genetics. 67(6)
Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy syndrome of early childhood with remission before the age of 3 years. The syndrome has been linked to loci on chromosomes 1q23, 2q24, 16p12-q12, and 19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a42d3757c54ff2cc20006bb5a1c920f6
https://pubmed.ncbi.nlm.nih.gov/15857419
https://pubmed.ncbi.nlm.nih.gov/15857419
Autor:
E E, Kors, K R J, Vanmolkot, J, Haan, A M J M, van den Maagdenberg, R R, Frants, M D, Ferrari
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 148(39)
Familial hemiplegic migraine (FHM) is a rare, autosomal dominant subtype of migraine, associated in half of the families with mutations in the CACNA1A gene located on chromosome 19p13, which encodes the Cav2.1-subunit of brain-specific P/Q-type calci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8d7fc86dda65198a4499d88bd115b41d
https://pubmed.ncbi.nlm.nih.gov/15495990
https://pubmed.ncbi.nlm.nih.gov/15495990
Autor:
R P, Bruyn, R R, Frants
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 148(4)
Hereditary spastic paraparesis (HSP) belongs to a group of genetically and clinically heterogeneous disorders characterised by progressive spasticity of the legs and hyperreflexia. A further clinical distinction is drawn between pure and complicated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6a0b11468fffe4abead8df3b3fa8a1d5
https://pubmed.ncbi.nlm.nih.gov/14974310
https://pubmed.ncbi.nlm.nih.gov/14974310
Autor:
A M J M, van den Maagdenberg, E E, Kors, E R, Brunt, W, van Paesschen, J, Pascual, D, Ravine, S, Keeling, K R J, Vanmolkot, F L M G, Vermeulen, G M, Terwindt, J, Haan, R R, Frants, M D, Ferrari
Publikováno v:
Journal of neurology. 249(11)
We analysed the CACNA1A gene, located on chromosome 19p13, in three unrelated families and one sporadic case with episodic ataxia type 2 (EA-2). In two of the families and the sporadic patient, novel truncating mutations, which disrupt the reading fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c633e16bab25943f8e9ecc0f71d5f1e5
https://pubmed.ncbi.nlm.nih.gov/12420090
https://pubmed.ncbi.nlm.nih.gov/12420090