Neurological manifestations in adult patients with the m.3243A>G variant in mitochondrial DNA

Autor: Kari Majamaa, Mikko Kärppä, Jukka S Moilanen

Publikováno v: BMJ Neurology Open, Vol 6, Iss 2 (2024)

Background The m.3243A>G variant in mitochondrial DNA (mtDNA) is the most common cause of the MELAS (Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes) syndrome usually commencing in childhood or adolescence. In adults, the varia

Externí odkaz: https://doaj.org/article/185136fa0b004cab83c323c82ff50399

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

Autor: Mitja I. Kurki, Elmo Saarentaus, Olli Pietiläinen, Padhraig Gormley, Dennis Lal, Sini Kerminen, Minna Torniainen-Holm, Eija Hämäläinen, Elisa Rahikkala, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen–Ebrahim, Heli Helander, Päivi Vieira, Minna Männikkö, Markku Peltonen, Aki S. Havulinna, Veikko Salomaa, Matti Pirinen, Jaana Suvisaari, Jukka S. Moilanen, Jarmo Körkkö, Outi Kuismin, Mark J. Daly, Aarno Palotie

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)

Various types of genetic variation contribute to the etiology of intellectual disability (ID). Here, the authors study a cohort of ID patients enriched for mild ID from Finland, to investigate contributions of rare and common variants associated with

Externí odkaz: https://doaj.org/article/ab9e0271d0224acca582195c7d5d71d8

Supplementary Figure 1 from Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

Autor: Roger A. Greenberg, Jukka S. Moilanen, Lisa A. Moreau, Kym M. Boycott, A. Micheil Innes, David A. Dyment, Jacek Majewski, Martin Kircher, Jeremy Schwartzentruber, Marketta Kähkönen, Lei Tian, Sarah L. Sawyer

Supplementary Figure 1. BRCA1 mutations lead to impaired MMC induced DNA damage signaling.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0532760bd962cbf7fc57649914de88e2
https://doi.org/10.1158/2159-8290.22530600.v1

Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland

Autor: Maria Suo-Palosaari, Päivi Vieira, Elisa Rahikkala, Oula Knuutinen, Reetta Hinttala, Johanna Uusimaa, Salla M. Kangas, Jukka S. Moilanen, Jaakko H Oikarainen, Tytti Pokka

Publikováno v: Developmental Medicine & Child Neurology. 63:1066-1074

AIM To examine the epidemiological, clinical, and genetic characteristics of paediatric patients with genetic white matter disorders (GWMDs) in Northern Finland. METHOD A longitudinal population-based cohort study was conducted in the tertiary catchm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2166b514d2ef530b97d0d5e656058203
https://doi.org/10.1111/dmcn.14884

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Autor: Judith Balmaña, Douglas F. Easton, Adeline Cuggia, Kenneth Offit, Heli Nevanlinna, Judy Garber, Florentia Fostira, Kelly A. Metcalfe, Jana Soukupova, Carlo Tondini, Orland Diez, George Zogopoulos, James Scarth, Marketa Janatova, Tuya Pal, Mark E. Robson, James E. Redman, Laura Ottini, Patrick Concannon, Ann S.G. Lee, Åke Borg, Anders Kvist, Sandra Schneider, Valentina Silvestri, Christoph Engel, Rachel Silva-Smith, Antoine De Pauw, Tu Nguyen-Dumont, Inga Plaskocinska, Katherine L. Nathanson, Hans Ehrencrona, Susan J. Ramus, Rita K. Schmutzler, Craig Luccarini, Mitul Shah, Sophia George, Goska Leslie, Jeffrey N. Weitzel, Irene Konstantopoulou, Carl Blomqvist, William D. Foulkes, Georgia Chenevix-Trench, Marc Tischkowitz, Thomas van Overeem Hansen, Pei Sze Ng, Kathleen Claes, Ellen L. Goode, Olufunmilayo I. Olopade, Sarah M. Nielsen, Andy C. H. Lee, Melissa C. Southey, Ramunas Janavicius, Jill S. Dolinsky, Alfons Meindl, Paolo Peterlongo, Julie O. Culver, Kristiina Aittomäki, Robert Winqvist, Alison H. Trainer, Tuomas Heikkinen, Paolo Radice, David E. Goldgar, Florian Obermair, Marie E. Wood, Jonine L. Bernstein, Sook-Yee Yoon, Paul D.P. Pharoah, Christopher R. Hake, Claude Houdayer, Irene L. Andrulis, Aaron Elliott, Zaki El-Haffaf, Petra Kleiblova, Jukka S. Moilanen, Judith Hurley, Antonis C. Antoniou, Siranoush Manoukian, Fergus J. Couch, Anne-Bine Skytte, Susan L. Neuhausen, Gary Unzeitig, D. Gareth Evans, Eamonn R. Maher, John L. Hopper, Rachel McFarland, James A. G. Whitworth, Judith Penkert, Julian Barwell, Susan M. Domchek, Zdenek Kleibl, Leila Dorling, Lisa Golmard, Peter Ang, Brennan Decker, Cheng Har Yip, Nur Aishah Taib, Vilius Rudaitis, Julian Adlard, Xin Yang, Jamie Allen, Lydia Usha, Francesca Damiola, Amal Yussuf, Katri Pylkäs, Alicja Doroszuk, Eric Hahnen, Muriel A. Adank, Karen A. Pooley, Soo Hwang Teo, Kristie Bobolis, Paul A. James, Alison M. Dunning, Holly LaDuca, Stephen B. Gruber, Wendy McKinnon, Fabienne Lesueur, Lucy Side, Arto Mannermaa, Thomas P. Slavin

Publikováno v: Yang, X, Leslie, G, Doroszuk, A, Schneider, S, Allen, J, Decker, B, Dunning, A M, Redman, J, Scarth, J, Plaskocinska, I, Luccarini, C, Shah, M, Pooley, K, Dorling, L, Leei, A, Adank, M A, Adlard, J, Aittomäki, K, Andrulis, I L, Ang, P, Barwell, J, Bernstein, J L, Bobolis, K, Borg, Å, Blomqvist, C, Claes, K B M, Concannon, P, Cuggia, A, Culver, J O, Damiola, F, De Pauw, A, Diez, O, Dolinsky, J S, Domchek, S M, Engel, C, Evans, D G, Fostira, F, Garber, J, Golmard, L, Goode, E L, Gruber, S B, Hahnen, E, Hake, C, Heikkinen, T, Hurley, J E, Janavicius, R, Kleibl, Z, Kleiblova, P, Konstantopoulou, I, Kvist, A, Laduca, H, Lee, A S G, Lesueur, F, Maher, E R, Mannermaa, A, Manoukian, S, McFarland, R, McKinnon, W, Meindl, A, Metcalfe, K, Taib, N A M, Moilanen, J, Nathanson, K L, Neuhausen, S, Ng, P S, Nguyen-Dumont, T, Nielsen, S M, Obermair, F, Offit, K, Olopade, O I, Ottini, L, Penkert, J, Pylkäs, K, Radice, P, Ramus, S J, Rudaitis, V, Side, L, Silva-Smith, R, Silvestri, V, Skytte, A B, Slavin, T, Soukupova, J, Tondini, C, Trainer, A H, Unzeitig, G, Usha, L, Van Overeem Hansen, T, Whitworth, J, Wood, M, Yip, C H, Yoon, S Y, Yussuf, A, Zogopoulos, G, Goldgar, D, Hopper, J L, Chenevix-Trench, G, Pharoah, P, George, S H L, Balmaña, J, Houdayer, C, James, P, El-Haffaf, Z, Ehrencrona, H, Janatova, M, Peterlongo, P, Nevanlinna, H, Schmutzler, R, Teo, S H, Robson, M, Pal, T, Couch, F, Weitzel, J N, Elliott, A, Southey, M, Winqvist, R, Easton, D F, Foulkes, W D, Antoniou, A C & Tischkowitz, M 2020, ' Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families ', Journal of Clinical Oncology, vol. 38, no. 7, pp. 674-685 . https://doi.org/10.1200/JCO.19.01907

PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these ri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa6efd9d1ddf683873bdcb0c64763fb9
https://doi.org/10.1200/jco.19.01907