Vascular Endothelial Growth Factor Gene Variation and the Response to Photodynamic Therapy in Age-Related Macular Degeneration
Immonen, Ilkka, MD, Seitsonen, Sanna, MD, Tommila, Petri, MD, Kangas-Kontio, Tiia, MSc, Kakko, Sakari, MD, Savolainen, Eeva-Riitta, MD, Savolainen, Markku J., MD, Liinamaa, M. Johanna, MD
Published in Ophthalmology (Rochester, Minn.) (2010)
Published in Ophthalmology (Rochester, Minn.) (2010)
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Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
Scocchia, Alicia, Kangas-Kontio, Tiia, Irving, Melita, Hero, Matti, Saarinen, Inka, Pelttari, Liisa, Gall, Kimberly, Valo, Satu, Huusko, Johanna M, Tallila, Jonna, Sistonen, Johanna, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in Orphanet journal of rare diseases (09.10.2021)
Published in Orphanet journal of rare diseases (09.10.2021)
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Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
Scocchia, Alicia, Kangas-Kontio, Tiia, Irving, Melita, Hero, Matti, Saarinen, Inka, Pelttari, Liisa, Gall, Kimberly, Valo, Satu, Huusko, Johanna M, Tallila, Jonna, Sistonen, Johanna, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in Orphanet journal of rare diseases (17.02.2022)
Published in Orphanet journal of rare diseases (17.02.2022)
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Journal Article
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
Koskenvuo, Juha W, Saarinen, Inka, Ahonen, Saija, Tommiska, Johanna, Weckström, Sini, Seppälä, Eija H, Tuupanen, Sari, Kangas-Kontio, Tiia, Schleit, Jennifer, Heliö, Krista, Hathaway, Julie, Gummesson, Anders, Dahlberg, Pia, Ojala, Tiina H, Vepsäläinen, Ville, Kytölä, Ville, Muona, Mikko, Sistonen, Johanna, Salmenperä, Pertteli, Gentile, Massimiliano, Paananen, Jussi, Myllykangas, Samuel, Alastalo, Tero-Pekka, Heliö, Tiina
Published in PloS one (03.02.2021)
Published in PloS one (03.02.2021)
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Journal Article
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
Hathaway, Julie, Heliö, Krista, Saarinen, Inka, Tallila, Jonna, Seppälä, Eija H, Tuupanen, Sari, Turpeinen, Hannu, Kangas-Kontio, Tiia, Schleit, Jennifer, Tommiska, Johanna, Kytölä, Ville, Valori, Miko, Muona, Mikko, Sistonen, Johanna, Gentile, Massimiliano, Salmenperä, Pertteli, Myllykangas, Samuel, Paananen, Jussi, Alastalo, Tero-Pekka, Heliö, Tiina, Koskenvuo, Juha
Published in BMC cardiovascular disorders (05.03.2021)
Published in BMC cardiovascular disorders (05.03.2021)
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Impaired HDL2-mediated cholesterol efflux is associated with metabolic syndrome in families with early onset coronary heart disease and low HDL-cholesterol level
Paavola, Timo, Kuusisto, Sanna, Jauhiainen, Matti, Kakko, Sakari, Kangas-Kontio, Tiia, Metso, Jari, Soininen, Pasi, Ala-Korpela, Mika, Bloigu, Risto, Hannuksela, Minna L, Savolainen, Markku J, Salonurmi, Tuire
Published in PloS one (16.02.2017)
Published in PloS one (16.02.2017)
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Journal Article
DSP p.(Thr2104Glnfs12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy
Heliö, Krista, Kangas-Kontio, Tiia, Weckström, Sini, Vanninen, Sari U M, Aalto-Setälä, Katriina, Alastalo, Tero-Pekka, Myllykangas, Samuel, Heliö, Tiina M, Koskenvuo, Juha W
Published in BMC medical genetics (31.01.2020)
Published in BMC medical genetics (31.01.2020)
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P577: Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel
Hathaway, Julie, Huusko, Johanna, Cicerchia, Marcos, Ahonen, Saija, Tommiska, Johanna, Gall, Kim, Liaquat, Khalida, Howell, Victoria, Sluyters, Allison, Djupsjöbacka, Janica, Muona, Mikko, Saarinen, Inka, Seppala, Eija, Kangas-Kontio, Tiia, Koskinen, Lotta, Salmenperä, Pertteli, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome
Pietrzak, Anna, Badura-Stronka, Magdalena, Kangas-Kontio, Tiia, Felczak, Paulina, Kozubski, Wojciech, Latos-Bielenska, Anna, Wierzba-Bobrowicz, Teresa, Florczak-Wyspianska, Jolanta
Published in Folia neuropathologica (01.01.2019)
Published in Folia neuropathologica (01.01.2019)
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P487: Genetic findings from multi-gene panel for primary ciliary dyskinesia
Howell, Victoria, Huusko, Johanna, Bernal, Manuel, Faber, Allison, Valo, Satu, Gall, Kimberly, Koskinen, Lotta, Kangas-Kontio, Tiia, Saarinen, Inka, Kytölä, Ville, Siivonen, Pauli, Djupsjöbacka, Janica, Gentile, Massimiliano, Salmenperä, Pertteli, Paananen, Jussi, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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P465: The occurrence of noncoding variants, copy number variants and variants in difficult-to-sequence genes in over 10,000 whole exome sequencing tests
Gall, Kimberly, Hathaway, Julie, Howell, Victoria, Scocchia, Alicia, Sluyters, Allison, Saarinen, Inka, Kangas-Kontio, Tiia, Kaare, Milja, Wells, Kirsty, Calvo del Castillo, Maria, Muona, Mikko, Pietila, Tuuli, Rantanen, Matias, Gentile, Massimiliano, Salmenperä, Pertelli, Paananen, Jussi, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Variation in the vascular endothelial growth factor gene, carotid intima-media thickness and the risk of acute myocardial infarction
Kangas-Kontio, Tiia, Tapanainen, Jari M., Huikuri, Heikki, Savolainen, Eeva-Riitta, Päivänsalo, Markku, Kauma, Heikki, Kesäniemi, Y. Antero, Savolainen, Markku J., Kakko, Sakari
Published in Scandinavian journal of clinical and laboratory investigation (01.01.2009)
Published in Scandinavian journal of clinical and laboratory investigation (01.01.2009)
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eP346 - Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias
Scocchia, Alicia, Kangas-Kontio, Tiia, Pelttari, Liisa, Gall, Kim, Saarinen, Inka, Sistonen, Johanna, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias
Scocchia, Alicia, Kangas-Kontio, Tiia, Pelttari, Liisa, Gall, Kim, Saarinen, Inka, Sistonen, Johanna, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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eP359: Diagnostic yield of genetic testing in an unselected cohort of patients with congenital heart disease
Hathaway, Julie, Cicerchia, Marcos, Tommiska, Johanna, Ahonen, Saija, Seppala, Eija, Scocchia, Alicia, Saarinen, Inka, Gall, Kimberly, Rantanen, Matias, Schleit, Jennifer, Kangas-Kontio, Tiia, Gentile, Massimiliano, Salmenpera, Pertteli, Paananen, Jussi, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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eP351: Next-generation sequencing panels for cystic kidney disease with improvements for sequencing and alignment challenges
Hathaway, Julie, Scocchia, Alicia, Huusko, Johanna, Bernal, Manuel, Saarinen, Inka, Rantanen, Matias, Schleit, Jennifer, Kangas-Kontio, Tiia, Pietila, Tuuli, Salmenpera, Pertteli, Gentile, Massimiliano, Myllykangas, Samuel, Koskenvuo, Juha, Gall, Kim
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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eP358: Genetic findings in a cohort of patients with pulmonary arterial hypertension referred for NGS panel testing
Hathaway, Julie, Cicerchia, Marcos, Tommiska, Johanna, Ahonen, Saija, Seppälä, Eija, Gall, Kimberly, Scocchia, Alicia, Saarinen, Inka, Rantanen, Matias, Schleit, Jennifer, Kangas-Kontio, Tiia, Gentile, Massimiliano, Salmenperä, Pertteli, Paananen, Jussi, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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eP343 - Biallelic NRAP variants are a significant cause of dilated cardiomyopathy
Gall, Kim, Koskenvuo, Juha, Saarinen, Inka, Tommiska, Johanna, Weckstrom, Sini, Seppala, Eija, Tuupanen, Sari, Kangas-Kontio, Tiia, Schleit, Jennifer, Hathaway, Julie, Muona, Mikko, Sistonen, Johanna, Salmenpera, Pertelli, Gentile, Massimiliano, Paananen, Jussi, Alastalo, Tero-Pekka, Helio, Tiina
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Biallelic NRAP variants are a significant cause of dilated cardiomyopathy
Gall, Kim, Koskenvuo, Juha, Saarinen, Inka, Tommiska, Johanna, Weckstrom, Sini, Seppala, Eija, Tuupanen, Sari, Kangas-Kontio, Tiia, Schleit, Jennifer, Hathaway, Julie, Muona, Mikko, Sistonen, Johanna, Salmenpera, Pertelli, Gentile, Massimiliano, Paananen, Jussi, Alastalo, Tero-Pekka, Helio, Tiina
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Genetic and environmental determinants of total and high-molecular weight adiponectin in families with low HDL-cholesterol and early onset coronary heart disease
Kangas-Kontio, Tiia, Huotari, Anne, Ruotsalainen, Heli, Herzig, Karl-Heinz, Tamminen, Minna, Ala-Korpela, Mika, Savolainen, Markku J, Kakko, Sakari
Published in Atherosclerosis (01.06.2010)
Published in Atherosclerosis (01.06.2010)
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