Zobrazeno 1 - 10
of 200
pro vyhledávání: '"Marianne Schwartz"'
Publikováno v:
Case Reports in Genetics, Vol 2011 (2011)
A Turkish boy was referred at the age of 3 6/12 years for the evaluation of a premature moustache. No other signs of virilisation were present. The endocrine evaluation led to the diagnosis of nonclassic congenital adrenal hyperplasia. Genetic analys
Externí odkaz:
https://doaj.org/article/8179a11428d34dff89613e57376314f2
Autor:
MARIANNE SCHWARTZ
Publikováno v:
Horse and Rider in the late Viking Age ISBN: 9788772194660
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4176170d2730104f6adb3cbcbb9a093b
https://doi.org/10.2307/j.ctv34wmv0p.6
https://doi.org/10.2307/j.ctv34wmv0p.6
Autor:
Michele Ramsay, Robert Williamson, Xavier Estivill, Brandon J. Wainwright, Meng-Falt Ho, Stephanie Halford, Juha Kere, Erkki Savilahti, Albert de la Chapelle, Marianne Schwartz, Martin Schwartz, Maurice Super, Peter Farndon, Carol Hardlng, Linda Meredith, Layla Al-Jader, Claude Ferec, Mirellle Claustres, Teresa Casals, Virginia Nunes, Paolo Gasparini, Anna Savoia, Pier Franco Pignatti, Giuseppe Novelli, Massimo Bennarelli, Bruno Dallapiccola, Luba Kalaydjieva, Peter J. Scambler
Publikováno v:
Scopus-Elsevier
Positional cloning involves first finding linkage between an inherited phenotype (such as a disease) and a DNA marker, followed by the use of a variety of physical and genetic mapping techniques to move from linkage to mutation. If there is a founder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4db222f8243eb4dd163961fc1392f93d
https://ora.ox.ac.uk/objects/uuid:18ed8428-cbf7-41b9-bfda-cd94313251ad
https://ora.ox.ac.uk/objects/uuid:18ed8428-cbf7-41b9-bfda-cd94313251ad
Autor:
Paulo J. Magalhães, Juliette Saillard, David Leroy, Morten Duno, Marianne Schwartz, Søren Nørby, Erik Kann, Thomas Rosenberg
Publikováno v:
Rosenberg, N T, Nørby, S, Schwartz, M, Saillard, J, Magalhães, P J, Leroy, D, Kann, E C & Duno, M 2016, ' Prevalence and Genetics of Leber Hereditary Optic Neuropathy in the Danish Population ', Investigative Ophthalmology & Visual Science, vol. 57, no. 3, pp. 1370-1375 . https://doi.org/10.1167/iovs.15-18306
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science, Association for Research in Vision and Ophthalmology, 2016, 57 (3), pp.1370
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science, Association for Research in Vision and Ophthalmology, 2016, 57 (3), pp.1370
PURPOSE: In Denmark, the occurrence of Leber hereditary optic neuropathy (LHON) has continuously been monitored since 1944. We provide here a summary of 70 years of data collection including registered lines and subjects by the end of 2012.METHODS: A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b688011a08e2e5c18fad564ec690a23c
https://curis.ku.dk/ws/files/178285469/i1552_5783_57_3_1370.pdf
https://curis.ku.dk/ws/files/178285469/i1552_5783_57_3_1370.pdf
Autor:
David B. Olsen, Flemming Wibrand, Marianne Schwartz, Morten Duno, Anja Lisbeth Frederiksen, John Vissing, Tina D. Jeppesen
Publikováno v:
Muscle & Nerve. 41:607-613
We evaluated the diagnostic value of respiratory chain (RC) enzyme analysis of muscle in adult patients with mitochondrial myopathy (MM). RC enzyme activity was measured in muscle biopsies from 39 patients who carry either the 3243A>G mutation, other
Autor:
Marianne Schwartz, Kirsten Ohm Kyvik, Anja Lisbeth Frederiksen, Ole Schmitz, John Vissing, Per Heden Andersen, Tina D. Jeppesen, Per Løgstrup Poulsen
Publikováno v:
Frederiksen, A L, Jeppesen, T D, Vissing, J, Schwartz, M, Kyvik, K O, Schmitz, O, Poulsen, P L & Andersen, P H 2009, ' High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A >G mitochondrial DNA mutation-positive subjects ', Journal of Clinical Endocrinology and Metabolism, vol. 94, no. 8, pp. 2872-9 . https://doi.org/10.1210/jc.2009-0235
Udgivelsesdato: 2009-Aug INTRODUCTION: The point mutation of 3243A>G mtDNA is the most frequent cause of mitochondrial diabetes, often presenting as the syndrome maternally inherited diabetes and deafness (MIDD). The mutation may also cause myopathy,
Autor:
Marianne Schwartz, Veronika Skalická, Miroslava Balascakova, Manfred Stuhrmann, Martine Jaspers, Frauke Stanke, Kris De Boeck, Burkhard Tümmler, Isabelle de Monestrol, Judit Korbmacher, Brigitte Boissier, Lena Hjelte, Yann Fichou, Harry Cuppens, L. Bassinet, Mireille Claustres, Abul Kalam Azad, Marie des Georges, Dragica Radojkovic, Christoph Korbmacher, Robert Rauh, Jean-Jacques Cassiman, Martin Schwarz, François Vermeulen, Emmanuelle Girodon, Lieven Dupont, Claude Férec, Carlo Castellani, Patrick Lebecque
Publikováno v:
Human Mutation. 30:1093-1103
We investigated whether mutations in the genes that code for the different subunits of the amiloride-sensitive epithelial sodium channel (ENaC) might result in cystic fibrosis (CF)-like disease. In a small fraction of the patients, the disease could
Publikováno v:
International Journal of Andrology. 33:521-527
Summary Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with impaired function of the adrenal cortex caused by mutations in the CYP21A2 gene. Deficiency of steroid 21-hydroxylase accounts for 80–95% of CAH cases. Testicular
Autor:
Marianne Schwartz, Ola Hjalmarson, Ernst Christensen, Elsebet Ostergaard, Mustafa Batbayli, Elisabeth Holme, Gittan Kollberg
Publikováno v:
European Journal of Pediatrics. 169:201-205
Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding th
Åland Eye Disease (Forsius-Eriksson-Miyake syndrome) with probability established in a Danish family
Publikováno v:
Acta Ophthalmologica. 68:281-291
A reinvestigation of a Danish family with X-linked inherited congenital nystagmus through 6 generations revealed a congenital stationary retinal dysfunction syndrome with characteristics of both incomplete congenital stationary night blindness and Al