Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Analia Munoz"'
Autor:
Daniel Robyr, Periklis Makrythanasis, Christian Iseli, Stylianos E. Antonarakis, Laurent Farinelli, Siv Fokstuen, Jean-Louis Blouin, Sergey Nikolaev, Jeremy Bevillard, Analia Munoz, Federico Santoni
Publikováno v:
Clinical Genetics. 85:365-370
Mendelian cardiomyopathies and arrhythmias are characterized by an important genetic heterogeneity, rendering Sanger sequencing very laborious and expensive. As a proof of concept, we explored multiplex targeted high-throughput sequencing (HTS) as a
Autor:
Niklaus Erb, Analia Munoz, Jean-Louis Blouin, Peter Dürig, Dieter Kotzot, Hans Jörg Altermatt, Siv Fokstuen, Franz Binkert
Publikováno v:
American Journal of Medical Genetics Part A. 161:1101-1104
Autor:
Sabino Iliceto, Cemil Özcelik, Analia Munoz, Claudine Rieubland, Stylianos E. Antonarakis, Martin Farr, Ulrich Sigwart, François Mach, Paola Melacini, René Lerch, Jean-Louis Blouin, Xavier Jeanrenaud, Siv Fokstuen, Lothar Faber, Andreas Perrot
Publikováno v:
Journal of Medical Genetics, Vol. 48, No 8 (2011) pp. 572-6
Journal of medical genetics
Journal of medical genetics
Background Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease (1/500) and the most common cause of sudden cardiac death in young people. Pathogenic mutation detection of HCM is having a growing impact on the medical manage
Autor:
Robert Lyle, Andreas Perrot, Analia Munoz, Ulrich Sigwart, Maurice Beghetti, Christian Geier, Corinne Gehrig, Karl Josef Osterziel, Siv Fokstuen, Stylianos E. Antonarakis, Juan Sztajzel, René Lerch, François Mach, Jean-Louis Blouin
Publikováno v:
Human Mutation, Vol. 29, No 6 (2008) pp. 879-85
Hypertrophic cardiomyopathy (HCM) is a heterogeneous autosomal dominant cardiac disorder with a prevalence of 1 in 500. Over 450 different pathogenic mutations in at least 16 genes have been identified so far. The large allelic and genetic heterogene
Autor:
Romain Lazor, Maria Margherita De Santi, Francesca Santamaria, Emilie Falconnet, Alexandra Saitta, Analia Munoz, C. D. DeLozier-Blanchet, Colette Rossier, Mike Failly, Lucia Bartoloni, Jean-Louis Blouin
Publikováno v:
Respiration. 76:198-204
Background: Primary ciliary dyskinesia (PCD) is a rare recessive hereditary disorder characterized by dysmotility to immotility of ciliated and flagellated structures. Its main symptoms are respiratory, caused by defective ciliary beating in the epit
Autor:
Analia Munoz, Jayesh Sheth, Consolato Sergi, John Lui Blouin, Jhumur Pani, Harsh Sheth, Frenny Sheth
Publikováno v:
International Journal of Human Genetics. 11:51-53
Here we report a case of double aneuploidy showing trisomy 21 and triple-X chromosome in a case of Down syndrome born to young non-consanguineous parents. The child presented with strabismus, perio...
Autor:
Romain Lazor, O. Sacco, Lucia Bartoloni, A. Letourneau, Jean-Louis Blouin, Mike Failly, Analia Munoz, Francesca Santamaria, E. Falconnet, M. M. De Santi, C. D. DeLozier-Blanchet, Colette Rossier
Background: Primary ciliary dyskinesia (PCD) is characterised by recurrent infections of the upper respiratory airways (nose, bronchi, and frontal sinuses) and randomisation of left–right body asymmetry. To date, PCD is mainly described with autoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bb71c29785b100d0e6284c8c3fc03fe
http://hdl.handle.net/11588/377628
http://hdl.handle.net/11588/377628
Autor:
Analia Munoz, Jean-Louis Blouin, Marja W. Wessels, Patrick Willems, Heymut Omran, Mike Failly, Avraham Avital
Publikováno v:
American Journal of Medical Genetics. A, Vol. 146A, No 13 (2008) pp. 1765-1767
American Journal of Medical Genetics Part A, 146A(13), 1765-1767. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 146A(13), 1765-1767. Wiley-Liss Inc.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e9b5f415c46ee8ee16c10739d829d38
https://archive-ouverte.unige.ch/unige:1797
https://archive-ouverte.unige.ch/unige:1797