Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Milja Kaare"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 8, Pp n/a-n/a (2023)
Abstract Background Discussion about the risks and benefits of offering secondary findings as part of genome‐wide diagnostics lacks real‐life data. We studied the opt‐in decisions of patients/families referred to whole exome study (WES) in Blue
Externí odkaz:
https://doaj.org/article/0d82de37f1a940f39a5736b8fb8ce5f5
Autor:
Kimberly Gall, Julie Hathaway, Victoria Howell, Alicia Scocchia, Allison Sluyters, Inka Saarinen, Tiia Kangas-Kontio, Milja Kaare, Kirsty Wells, Maria Calvo del Castillo, Mikko Muona, Tuuli Pietila, Matias Rantanen, Massimiliano Gentile, Pertelli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100512- (2023)
Externí odkaz:
https://doaj.org/article/9d7ca44a1e8542b1baab457c055644db
Autor:
Ivana Frongia, Susanna Rizzi, Margherita Baga, Laura Maria Ceteroni, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Milja Kaare, Francesco Pisani, Carlo Fusco
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Charcot–Marie–Tooth (CMT) is the most frequent group of inherited neuropathies and includes several heterogeneous phenotypes. Over 80 causative genes have been described so far. Variants in the microrchidia family CW-type zinc finger
Externí odkaz:
https://doaj.org/article/40e0a2cf747a4aa68375f72fb1d55448
Publikováno v:
European journal of medical genetics. 66(1)
The RFX7 gene is one of eight genes within the regulatory factor X family. RFX7 is highly expressed in the brain and plays an important role in cell maturation and differentiation. It has only recently been implicated in disease in humans. Reports fr
Autor:
Carlotta Spagnoli, Daniele Frattini, Laura Maria Ceteroni, Milja Kaare, Ivana Frongia, Grazia Gabriella Salerno, Carlo Fusco, Francesco Pisani, Susanna Rizzi, Margherita Baga
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology
Frontiers in Neurology
Background: Charcot–Marie–Tooth (CMT) is the most frequent group of inherited neuropathies and includes several heterogeneous phenotypes. Over 80 causative genes have been described so far. Variants in the microrchidia family CW-type zinc finger
Autor:
Terhi Jokilehto, Milja Kaare, Olli Carpén, Reetta Vainionpää, Jari Sundström, Ari Ristimäki, Minnamaija Lintunen, Arto Orpana, Pia Österlund, Raija Ristamäki, Annika Ålgars, Soili Kytölä
Publikováno v:
International Journal of Cancer. 140:922-929
Anti-EGFR antibodies are used for the treatment of RAS wild type metastatic colorectal cancer. We previously showed that EGFR gene copy number (GCN) predicts response to anti-EGFR therapy in KRAS exon 2 wild type metastatic colorectal cancer. The aim
Autor:
Annika, Ålgars, Jari, Sundström, Minnamaija, Lintunen, Terhi, Jokilehto, Soili, Kytölä, Milja, Kaare, Reetta, Vainionpää, Arto, Orpana, Pia, Österlund, Ari, Ristimäki, Olli, Carpen, Raija, Ristamäki
Publikováno v:
International journal of cancer. 140(4)
Anti-EGFR antibodies are used for the treatment of RAS wild type metastatic colorectal cancer. We previously showed that EGFR gene copy number (GCN) predicts response to anti-EGFR therapy in KRAS exon 2 wild type metastatic colorectal cancer. The aim
Autor:
Anu Suomalainen, Veli-Matti Ulander, Sarah Ariansen, Alexandra Götz, Risto Kaaja, Milja Kaare, Kristiina Aittomäki
Publikováno v:
Molecular Human Reproduction. 15:295-300
The cause of recurrent miscarriage (RM) can be identified in approximately 50% of cases, whereas in others, unknown genetic factors are actively being sought. As mitochondrial functions, and therefore also the mitochondrial genome [mitochondrial DNA
Autor:
Ralf Bützow, Veli-Matti Ulander, Jodie N. Painter, Risto Kaaja, Milja Kaare, Kristiina Aittomäki
Publikováno v:
Reproductive BioMedicine Online. 18:430-435
This study aimed to investigate the role of p53 in early human development by screening patients with recurrent miscarriages (RM) for mutations in the p53 gene and by studying p53 expression in placental tissue. A total of 46 women with RM and 191 co
Publikováno v:
Fertility and Sterility. 90:2328-2333
Objective To investigate whether skewed X chromosome inactivation (XCI) and Y chromosome microdeletions are associated with recurrent miscarrige (RM). Design A retrospective study. Setting University hospital and genetic laboratory. Patient(s) Altoge