Zobrazeno 1 - 10
of 45
pro vyhledávání: '"D F, Schorderet"'
Autor:
Matthew J. Farrer, Keith D. Coon, Zbigniew K. Wszolek, Gregory Kapatos, D F. Schorderet, Alessandra Solida, M. Hauf, Jennifer M. Kachergus, Matt Baker, Stacey Melquist, Pierre Burkhard, Ashley Cannon, Mike Hutton, Christian Wider, Dietrich A. Stephan, J. Ghika, François Vingerhoets, Jennifer Gass, Stephanie A. Cobb
Publikováno v:
Neurology, vol. 70, no. 16 Pt 2, pp. 1377-1383
Neurology, Vol. 70, No 16 Pt 2 (2008) pp. 1377-83
Neurology, Vol. 70, No 16 Pt 2 (2008) pp. 1377-83
OBJECTIVE: To report the study of a multigenerational Swiss family with dopa-responsive dystonia (DRD). METHODS: Clinical investigation was made of available family members, including historical and chart reviews. Subject examinations were video reco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c232d7c908f16cb29620f3c4f50bc51
https://serval.unil.ch/notice/serval:BIB_773A2B48221E
https://serval.unil.ch/notice/serval:BIB_773A2B48221E
Autor:
M-C, Gaillard, T J, Wolfensberger, S, Uffer, I, Mantel, J-A, Pournaras, D F, Schorderet, F L, Munier
Publikováno v:
Klinische Monatsblatter fur Augenheilkunde. 222(3)
Malattia Leventinese (ML) is a genetically homogeneous macular dystrophy with an autosomal dominant mode of inheritance. Ophthalmoscopically it is recognisable by a radial pattern of drusen-like deposits in the macula and by parapapillary deposits, n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::17bf1ebfa99d91bc13f6e4e8d6b1a0fa
https://pubmed.ncbi.nlm.nih.gov/15785976
https://pubmed.ncbi.nlm.nih.gov/15785976
Autor:
F, Chiambaretta, F, Pilon, J-B, Deriot, M, Gerard, M-L, Couleangon, D F, Schorderet, J-L, Kemeny, B, Dastugue, I, Creveaux, D, Rigal
Publikováno v:
Journal francais d'ophtalmologie. 27(5)
Granular corneal dystrophy Groenouw type 1 (GGI) is a rare autosomal dominant disease caused by allelic mutations of the BIGH3 gene. The specific phenotype is characterized by granular opacities (white, sharply demarcated spots resembling bread crumb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::962bdbee903fba1cb05ce3249043ac0e
https://pubmed.ncbi.nlm.nih.gov/15179300
https://pubmed.ncbi.nlm.nih.gov/15179300
Publikováno v:
Genetic counseling (Geneva, Switzerland). 13(4)
A female newborn is reported with dextrocardia and a partial trisomy 20q, derived from a t(2;20) paternal translocation. The most discriminating findings of the condition include brachycephaly, bulging forehead, deep set eyes, short nose, large ears,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::02db2ed81c3f76a563579e67e67b6faf
https://pubmed.ncbi.nlm.nih.gov/12558114
https://pubmed.ncbi.nlm.nih.gov/12558114
Autor:
F L, Munier, D F, Schorderet
Publikováno v:
Klinische Monatsblatter fur Augenheilkunde. 218(3)
The following article is an attempt to summarise the recent genetic findings in chromosome 5q31 corneal dystrophies. It also shows the remarkable correlation between genotype and phenotype characterising them. Basically, 6 main heterozygote mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7325e8f1337c11addb3e0b0bb1c2e650
https://pubmed.ncbi.nlm.nih.gov/11322049
https://pubmed.ncbi.nlm.nih.gov/11322049
Autor:
D, Marchant, K, Gogat, S, Boutboul, M, Péquignot, C, Sternberg, P, Dureau, O, Roche, Y, Uteza, J C, Hache, B, Puech, V, Puech, V, Dumur, M, Mouillon, F L, Munier, D F, Schorderet, C, Marsac, J L, Dufier, M, Abitbol
Publikováno v:
Human mutation. 17(3)
We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons revealed electrophoretic mobility shifts exclusively in exons 2, 3, 4, 6 and 8. Direct sequencing ind
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d3debc410d54812791d5e144f4d431ba
https://pubmed.ncbi.nlm.nih.gov/11241846
https://pubmed.ncbi.nlm.nih.gov/11241846
Publikováno v:
Diabetes. 50(1)
Stress conditions and proinflammatory cytokines activate the c-Jun NH2-terminal kinase (JNK), a member of the stress-activated group of mitogen-activated protein kinases (MAPKs). We recently demonstrated that inhibition of JNK signaling with the use
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::901312bb5939274b766c1cad927bb567
https://pubmed.ncbi.nlm.nih.gov/11147798
https://pubmed.ncbi.nlm.nih.gov/11147798
Publikováno v:
Schweizerische medizinische Wochenschrift. 130(38)
Since 1988 the epidemiological surveillance of congenital anomalies (malformations, chromosomal aberrations, metabolic diseases, hereditary diseases, neurosensorial defects, etc.) is carried out by the Swiss registry of EUROCAT (European Registry of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5365e2d001ccbb26425af9a2396fc660
https://pubmed.ncbi.nlm.nih.gov/11064923
https://pubmed.ncbi.nlm.nih.gov/11064923
Autor:
A E, Ridgway, S, Akhtar, F L, Munier, D F, Schorderet, H, Stewart, R, Perveen, R E, Bonshek, M T, Odenthal, M, Dixon, R, Barraquer, R, Escoto, G C, Black
Publikováno v:
Investigative ophthalmologyvisual science. 41(11)
Two mutations (R555Q and R124L) in the BIGH3 gene have been described in anterior or Bowman's layer dystrophies (CDB). The clinical, molecular, and ultrastructural findings of five families with CDB was reviewed to determine whether there is a consis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1c165b820c29f06c5687ee73f3df5f97
https://pubmed.ncbi.nlm.nih.gov/11006215
https://pubmed.ncbi.nlm.nih.gov/11006215
Publikováno v:
Revue medicale de la Suisse romande. 120(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ac6033065b22d49a9c860796ba42b88f
https://pubmed.ncbi.nlm.nih.gov/10911748
https://pubmed.ncbi.nlm.nih.gov/10911748