Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Sabina Liechti‐Gallati"'
Publikováno v:
European Journal of Human Genetics. 7:590-598
The large size of many disease genes and the multiplicity of mutations complicate the design of an adequate assay for the identification of disease-causing variants. One of the most successful methods for mutation detection is the single strand confo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc509c2618e4362cd1fa0c82250dacd9
https://doi.org/10.1038/sj.ejhg.5200338
https://doi.org/10.1038/sj.ejhg.5200338
Autor:
Beat J. Meyer, Jürg H. Beer, Bernhard Lämmle, Khatereh Moshfegh, Maurice Redondo, Walter A. Wuillemin, Sabina Liechti-Gallati
Publikováno v:
The Lancet. 353:351-354
Summary Background The platelet membrane glycoprotein la/lla plays a major part in platelet function as a primary receptor for collagen. A previous report showed a variation of glycoprotein la/lla receptor density and function associated with two sil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06077f158fe9500e9f8112b150def237
https://doi.org/10.1016/s0140-6736(98)06448-4
https://doi.org/10.1016/s0140-6736(98)06448-4
Autor:
J. L. Mandel, Serge Vicaire, Sabina Liechti-Gallati, François Blondeau, Jocelyn Laporte, Stephan M. Tanner, Christophe Guiraud-Chaumeil, Ling-Jia Hu
Publikováno v:
European Journal of Human Genetics. 6:325-330
X-linked recessive myotubular myopathy (XLMTM) is a very severe congenital muscular disease characterised by an impaired maturation of muscle fibres, and caused by defects in the MTM1 gene. This gene defines a new family of putative tyrosine phosphat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77f6e2c2881a0bb594da301bd150ba0c
https://doi.org/10.1038/sj.ejhg.5200189
https://doi.org/10.1038/sj.ejhg.5200189
Autor:
Sabina Liechti-Gallati, Peter Moosmann, Stephan Krähenbühl, V. Schneider, Sebastian Brandner, Stephanie Kleinle
Publikováno v:
Biochemical and Biophysical Research Communications. 247:112-115
We have identified a novel mitochondrial (mt) DNA mutation in the tRNA(Phe)-gene in a patient with an isolated mitochondrial myopathy. This T to C transition at position 618 disrupts a strictly conserved base pair within the anticodon stem of tRNA(Ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::996e4a791f0fdc74fa98248df150ac4c
https://doi.org/10.1006/bbrc.1998.8729
https://doi.org/10.1006/bbrc.1998.8729
Publikováno v:
Human Mutation. 11:62-68
X-linked recessive myotubular myopathy (XLMTM; MTM1) is a severe neonatal disorder often causing perinatal death of the affected males. The responsible gene, designated MTM1, was localized to proximal Xq28 and recently isolated. The characterization
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c5b92a66a71cc3e2224e77e6c154919d
https://doi.org/10.1002/(sici)1098-1004(1998)11:1<62::aid-humu10>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1998)11:1<62::aid-humu10>3.0.co
Publikováno v:
Human Mutation. 11:62-68
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b369d2447a541532b2b5294d3cf09bb0
https://doi.org/10.1002/(sici)1098-1004(1998)11:1<62::aid-humu10>3.3.co
https://doi.org/10.1002/(sici)1098-1004(1998)11:1<62::aid-humu10>3.3.co
Autor:
René Burger, Jaya Balakrishnan, Francine Thonney, Sabina Liechti-Gallati, Inge Einschenk, Christian Brägger, Francoise Chevalier-Porst, Daniel F. Schorderet, Naseem Malik, Michael A. Morris, H. Moser, Martin Hergersberg, Thomas Bettecken
Publikováno v:
Human Genetics. 100:220-223
We have analysed 1173 cystic fibrosis (CF) chromosomes from Switzerland for eight mutations in the CF transmembrane conductance regulator (CFTR) gene. This permitted the identification of 88.5% of all mutations present. A novel insertion mutation in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c7171e479009c5a0368b90147a9eca2
https://doi.org/10.1007/s004390050494
https://doi.org/10.1007/s004390050494
Publikováno v:
Human Genetics. 98:681-684
The severe neonatal centronuclear/myotubular myopathy (XLMTM) is an X-linked disorder characterized by generalized muscle weakness, hypotonia and serious respiratory insufficiency. The gene for this disease has been assigned to the long arm of chromo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4269aab7d45830af0252787b50efb346
https://doi.org/10.1007/s004390050284
https://doi.org/10.1007/s004390050284
Autor:
Sabina Liechti-Gallati, N. Dahl, Ling-Jia Hu, Z. Smolenicka, Wolfram Kress, J. Fitzpatrick, Jocelyn Laporte
Publikováno v:
Neuromuscular Disorders. 6:275-281
X-linked recessive myotubular myopathy (XLMTM) is a severe neonatal neuro-muscular disease characterized by muscle weakness, hypotonia, and respiratory problems. The locus for the XLMTM gene (MTM1) has previously been mapped to Xq28 between the marke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e0955971f317c152627b0b04b41ac02
https://doi.org/10.1016/0960-8966(96)00364-1
https://doi.org/10.1016/0960-8966(96)00364-1
Autor:
Petra Kioschis, Sabina Liechti-Gallati, Sabine M. Klauck, Johannes F. Coy, Ute Christine Rogner, Elke Pick, Jocelyn Laporte, Nina S. Heiss, Bernhard Korn, Renate Siebenhaar, Annemarie Poustka
Publikováno v:
Genomics. 33:365-373
The X-linked myotubular myopathy locus (MTM1) has been assigned to the Xq28 region by linkage analysis. By observation of an interstitial deletion in a female patient, the candidate region could be further reduced to a region of 600 kb flanked by the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c1f20c98e461188fa6bc82f36ea3d81
https://doi.org/10.1006/geno.1996.0212
https://doi.org/10.1006/geno.1996.0212