A follow-up study of chromosome 19q13 in multiple sclerosis susceptibility

Autor: Keijo Koivisto, Pentti J. Tienari, M Laaksonen, Irina Elovaara, Juhani Ruutiainen, Leena Peltonen, Tuula Pirttilä, Mauri Reunanen, Terhi Rantamäki, Alessandro Bonetti

Publikováno v: Journal of Neuroimmunology. 208:119-124

A possible role of allelic variation on chromosome 19q13 in multiple sclerosis (MS) susceptibility has been suggested. We tested association of sixteen 19q13 markers with MS in 459 families. Nominally significant associations were tested in an indepe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1409dcefca2d9de8d991b7b056e75e6f
https://doi.org/10.1016/j.jneuroim.2009.01.003

Multiple sclerosis in western Finland: evidence for a founder effect

Autor: Pentti J. Tienari, Marja-Liisa Sumelahti, Terhi Rantamäki, Juhani Wikström

Publikováno v: Clinical Neurology and Neurosurgery. 106:175-179

We have previously demonstrated that there is a high-risk focus for multiple sclerosis (MS) in the southern Ostrobothnian region of western Finland (population 376121 in 1993). Of the two southern Ostrobothnian health-care districts, Vaasa and Seinä

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f8a75fdba62874c5fbc05cea5041ddf
https://doi.org/10.1016/j.clineuro.2004.02.009

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

Autor: Saga Le Bourdelles, Bart Loeys, Maureen Boxer, James C. Hyland, Gwenaëlle Collod-Béroud, Lesley C. Adès, Leena Ala-Kokko, Katerine Holman, Leena Peltonen, Gabor Matyas, Ilkka Kaitila, Claudine Junien, Christophe Béroud, Anne H. Child, P Comeglio, Terhi Rantamäki, Anne De Paepe, Catherine Boileau, Peter N. Robinson, Patrick Booms, L Nuytinck, Beat Steinmann

Publikováno v: Hum Mutat
Hum Mutat, 2003, 22 (3), pp.199-208. 〈10.1002/humu.10249〉
Human Mutation
Human Mutation, Wiley, 2003, 22 (3), pp.199-208. ⟨10.1002/humu.10249⟩
Human Mutation, 2003, 22 (3), pp.199-208. ⟨10.1002/humu.10249⟩

Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were first described in the heritable connective disorder, Marfan syndrome (MFS). FBN1 has also been shown to harbor mutations rel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::131e4e2c3e9993ebcdd8f9a42da0cced
http://www.hal.inserm.fr/inserm-00143263

Marfan database (third edition) : new mutations and new routines for the software

Autor: Gwenaëlle Collod-Béroud, Claudine Junien, Ana Beatriz Alvarez Perez, Leena Peltonen, Maureen Boxer, Ulrich Grau, David J. H. Brock, Uta Francke, Terhi Rantamäki, H. G. Klein, Caroline Hayward, Catherine Boileau, Lesley C. Adès, Wanguo Liu, Lieve Nuytinck, Anne De Paepe, Cheryl Black, Christophe Béroud, Katherine Holman

Publikováno v: NUCLEIC ACIDS RESEARCH
Nucleic Acids Research
Nucleic Acids Research, Oxford University Press, 1998, 26 (1), pp.229-3

The Marfan database is a software that contains routines for the analysis of mutations identified in the FBN1 gene that encodes fibrillin-1. Mutations in this gene are associated not only with Marfan syndrome but also with a spectrum of overlapping d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e05dc561619f18c859890c1e33ff66c5
https://hdl.handle.net/1854/LU-176530

Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample

Autor: Leena Karttunen, Michael Raghunath, Leena Peltonen, L Lonnqvist, Terhi Rantamäki, Anne H. Child

Publikováno v: Prenatal diagnosis. 15(12)

Marfan syndrome (MFS) is one of the most common heritable connective tissue disorders and is caused by mutations in a gene coding for fibrillin-1. All but one of over 30 published mutations have been unique and specific prenatal diagnostics can only

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34a6aebb2954099a5811e7cdd48285bf
https://pubmed.ncbi.nlm.nih.gov/8750301