Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Kaisa Niemi"'
Autor:
Kaisa Niemi
Publikováno v:
Suomen Antropologi, Vol 40, Iss 1, Pp 27-46 (2015)
Ethnic identities are affected by social changes which force identities, their meanings, and cultural markers connected to them to be adapted to new situations. Among the highland peoples of Southeast Asia in recent decades, the degree of change has
Externí odkaz:
https://doaj.org/article/0801ce69868e4544bff7d4daa4f0da90
Autor:
Rebecca Carter, Anna-Kaisa Niemi
Publikováno v:
Platelets. 33:649-651
Noonan syndrome (NS) is a genetic disorder with distinctive physical features and often multiple organ involvement. Bleeding disorders are reported in over half of patients with NS, including thrombocytopenia and platelet dysfunction. Neonatal alloim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::818f024266781610f7b4404573a2ea5c
https://doi.org/10.1080/09537104.2021.1981845
https://doi.org/10.1080/09537104.2021.1981845
Autor:
Mallory J. Owen, Sebastien Lefebvre, Christian Hansen, Chris M. Kunard, David P. Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary J. Willis, Annette Feigenbaum, Anna-Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal S. Mehtalia, Kevin K. Chau, Yong H. Kwon, Zhanyang Zhu, Sergey Batalov, Shimul Chowdhury, Seema Rego, James Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, Gail Knight, Albert Oriol, Jerica Lenberg, Shareef A. Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford, Kristen Wigby, Jacqueline Weir, Vicki S. Thomson, Louise Fraser, Seka S. Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore
Publikováno v:
Nature communications, vol 13, iss 1
While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians frequently lack familiarity with these diseases,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93a9f2cc8e4850bd65efab3c63ddbe87
https://doi.org/10.1038/s41467-022-31446-6
https://doi.org/10.1038/s41467-022-31446-6
Autor:
Valerie Y. Chock, Anna-Kaisa Niemi
Publikováno v:
The Journal of Pediatrics. 208:282-286
We assessed the utility of near-infrared spectroscopy to evaluate neonates with mitochondrial disorders. We observed abnormally high cerebral oxygen saturation levels indicating insufficient tissue oxygen utilization. We propose that near-infrared sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d029318e471540686c6a2e8d896e1c4e
https://doi.org/10.1016/j.jpeds.2019.01.022
https://doi.org/10.1016/j.jpeds.2019.01.022
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 32:305-310
Background Neonatal severe hyperparathyroidism (NSHPT) is commonly treated with either parathyroidectomy or pharmacologic agents with varying efficacy and numerous side effects. Reports of using cinacalcet for NSHPT have increased, however, the effec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd25c76233b49a8a3fcf775e64f6da9d
https://doi.org/10.1515/jpem-2018-0307
https://doi.org/10.1515/jpem-2018-0307
Autor:
Anna-Kaisa Niemi, Kevin Hall, Meredith S. Wright, Mark Speziale, Louise Fraser, Jerica Lenberg, Shimul Chowdhury, Tim K McPhail, Sergey Batalov, Luca Van Der Kraan, Kevin K Chau, David Dimmock, Vicki S Thomson, Christian Hansen, Yan Ding, Mark Nespeca, Shyamal S Mehtalia, Sheldon Gilmer, Stephen F. Kingsmore, Mallory J Owen, Zhanyang Zhu, Gail Knight, Chris M Kunard, Charlotte A. Hobbs, Jacqueline Weir, John Reynders, Narayanan Veeraraghavan, Bryan R. Lajoie, Sebastien Lefebvre, Shareef Nahas, Thomas Defay
Publikováno v:
N Engl J Med
Speedy Genetic Diagnosis Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. Here, the genome ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90fdf8243084399b2bccf87ef969c176
https://europepmc.org/articles/PMC9844116/
https://europepmc.org/articles/PMC9844116/
Publikováno v:
NeoReviews. 19:e308-e311
At 18 days of age, a male infant born at term presents with redness and swelling surrounding the umbilicus (Fig 1). Figure 1. Abdomen at admission. At 13 days of age, the infant had spontaneous separation of the umbilical stump following routine dry
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bbd3c0735e66dc6e6909a6cda72def67
https://doi.org/10.1542/neo.19-5-e308
https://doi.org/10.1542/neo.19-5-e308
Autor:
Shimul Chowdhury, David Dimmock, Nanda Ramchandar, Charlotte A. Hobbs, Yan Ding, Stephen F. Kingsmore, Kiely N. James, Shareef Nahas, Anna-Kaisa Niemi, Annette Feigenbaum, Wendy Benson
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Neonatal encephalopathy with seizures is a presentation in which rapid whole-genome sequencing (rWGS) has shown clinical utility and improved outcomes. We report a neonate who presented on the third day of life with seizures refractory to antiepilept
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4820ad3c2cb35c309764e1f61373d15c
http://europepmc.org/articles/PMC6996516
http://europepmc.org/articles/PMC6996516
Autor:
Pentti J. Tienari, Jari Lahti, Lilja Jansson, Kari Majamaa, Jyrki Launes, Hannu Laaksovirta, Johan G. Eriksson, Samuli J. Salmi, Timo E. Strandberg, Anna-Kaisa Niemi, Laura Hokkanen, Karri Kaivola
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-9 (2020)
Acta Neuropathologica Communications
Acta Neuropathologica Communications
The hexanucleotide repeat expansion in intron 1 of the C9orf72 gene causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. In addition to the effects of the pathogenic expansion, a role of intermediate-length alleles has been suggest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d298908e8e5affb721c304bb7c014372
http://urn.fi/urn:nbn:fi-fe202102124626
http://urn.fi/urn:nbn:fi-fe202102124626
Autor:
Kaivola, Karri, Salmi, Samuli J., Jansson, Lilja, Launes, Jyrki, Hokkanen, Laura, Anna-Kaisa Niemi, Majamaa, Kari, Lahti, Jari, Eriksson, Johan G., Strandberg, Timo, Laaksovirta, Hannu, Tienari, Pentti J.
Additional file 1 Power calculations and detailed genotyping information.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6ebd0d68f9e0735a241f17235bdc360