المؤلفون: 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

المساهمون: Clinicum, Children's Hospital, Raivio Group, HUS Children and Adolescents

مصطلحات موضوعية: Skeletal dysplasia, Skeletal disorders, Next-generation sequencing, Multi-gene panel, Molecular diagnostics, Genetic diagnostics, Prenatal genetic testing, Copy number variant analysis, PRENATAL-DIAGNOSIS, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: Funding for the study was provided by Blueprint Genetics, Inc., a Quest Diagnostics company.; Scocchia , A , Kangas-Kontio , T , Irving , M , Hero , M , Saarinen , I , Pelttari , L , Gall , K , Valo , S , Huusko , J M , Tallila , J , Sistonen , J , Koskenvuo , J & Alastalo , T-P 2021 , ' Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia ' , Orphanet journal of rare diseases , vol. 16 , no. 1 , 412 . https://doi.org/10.1186/s13023-021-02025-7; http://hdl.handle.net/10138/342319; 58c9b852-e751-4ef5-8872-84cb9323651d; 000705208700008

الاتاحة: http://hdl.handle.net/10138/342319

المؤلفون: 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

المصدر: Orphanet Journal of Rare Diseases ; volume 17, issue 1 ; ISSN 1750-1172

الاتاحة: https://doi.org/10.1186/s13023-022-02242-8
https://link.springer.com/content/pdf/10.1186/s13023-022-02242-8.pdf
https://link.springer.com/article/10.1186/s13023-022-02242-8/fulltext.html

المؤلفون: Stoll, Georg, Pietiläinen, Olli PH, Linder, Bastian, Suvisaari, Jaana, Brosi, Cornelia, Hennah, William, Leppä, Virpi, Torniainen, Minna, Ripatti, Samuli, Ala-Mello, Sirpa, Plöttner, Oliver, Rehnström, Karola, Tuulio-Henriksson, Annamari, Varilo, Teppo, Tallila, Jonna, Kristiansson, Kati, Isohanni, Matti, Kaprio, Jaakko, Eriksson, Johan G, Raitakari, Olli T, Lehtimäki, Terho, Jarvelin, Marjo-Riitta, Salomaa, Veikko, Hurles, Matthew, Stefansson, Hreinn, Peltonen, Leena, Sullivan, Patrick F, Paunio, Tiina, Lönnqvist, Jouko, Daly, Mark J, Fischer, Utz, Freimer, Nelson B, Palotie, Aarno

المصدر: Nature Neuroscience. 16(9)

مصطلحات موضوعية: Neurosciences, Schizophrenia, Intellectual and Developmental Disabilities (IDD), Mental Health, Genetics, Fragile X Syndrome, Rare Diseases, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Mental health, Abnormalities, Multiple, Adolescent, Adult, Aged, Chromosome Deletion, Chromosomes, Human, Pair 22, Cognition Disorders, Cohort Studies, DNA Topoisomerases, Type I, DiGeorge Syndrome, Family Health, Female, Finland, Fragile X Mental Retardation Protein, Gene Expression Profiling, Genetic Association Studies, Genotype, HEK293 Cells, Health Surveys, Humans, Male, Middle Aged, Models, Molecular, Proteins, Ribonucleoproteins, Sequence Deletion, Young Adult, Psychology, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6dp021vs

المؤلفون: Hathaway, Julie, Heliö, Krista, Saarinen, Inka, Tallila, Jonna, Seppala, Eija H., Tuupanen, Sari, Turpeinen, Hannu, Kangas-Kontio, Tiia, Schleit, Jennifer, Tommiska, Johanna, Kytola, Ville, Valori, Miko, Muona, Mikko, Sistonen, Johanna, Gentile, Massimiliano, Salmenpera, Pertteli, Myllykangas, Samuel, Paananen, Jussi, Alastalo, Tero-Pekka, Helio, Tiina, Koskenvuo, Juha

المساهمون: HUS Heart and Lung Center, Helsinki University Hospital Area, Clinicum, Department of Medicine, Doctoral Programme in Clinical Research

مصطلحات موضوعية: Hypertrophic cardiomyopathy, Genetic testing, Next generation sequencing, Diagnosis, Counseling, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: Hathaway , J , Heliö , K , Saarinen , I , Tallila , J , Seppala , E H , Tuupanen , S , Turpeinen , H , Kangas-Kontio , T , Schleit , J , Tommiska , J , Kytola , V , Valori , M , Muona , M , Sistonen , J , Gentile , M , Salmenpera , P , Myllykangas , S , Paananen , J , Alastalo , T-P , Helio , T & Koskenvuo , J 2021 , ' Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients ' , BMC Cardiovascular Disorders , vol. 21 , no. 1 , 126 . https://doi.org/10.1186/s12872-021-01927-5; ORCID: /0000-0001-6244-1969/work/93304017; http://hdl.handle.net/10138/329626; 6f61c275-a1fc-4645-aba1-1c0635e577af; 000625928000001

الاتاحة: http://hdl.handle.net/10138/329626

المؤلفون: 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

المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-021-02025-7
https://link.springer.com/content/pdf/10.1186/s13023-021-02025-7.pdf
https://link.springer.com/article/10.1186/s13023-021-02025-7/fulltext.html

المؤلفون: Vattulainen, Sanna, Aho, Joonas, Salmenperä, Pertteli, Bruce, Siina, Tallila, Jonna, Gentile, Massimiliano, Sankelo, Marja, Laitinen, Tarja, Koskenvuo, Juha W., Alastalo, Tero-Pekka, Myllykangas, Samuel

المساهمون: Children's Hospital, Clinicum, University of Helsinki, Department of Diagnostics and Therapeutics, Lastentautien yksikkö, Medicum, Department of Biochemistry and Developmental Biology, HUS Children and Adolescents

مصطلحات موضوعية: BMPR2, genetic diagnostics, genetics, OS-Seq, pulmonary arterial hypertension, Biomedicine

وصف الملف: application/pdf

Relation: Vattulainen , S , Aho , J , Salmenperä , P , Bruce , S , Tallila , J , Gentile , M , Sankelo , M , Laitinen , T , Koskenvuo , J W , Alastalo , T-P & Myllykangas , S 2015 , ' Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing ' , Molecular Genetics & Genomic Medicine , vol. 3 , no. 4 , pp. 354-362 . https://doi.org/10.1002/mgg3.147; RIS: urn:5B246083685AA0EC93E65C46591AEC0B; http://hdl.handle.net/10138/233220; c85d73c7-886c-48e2-8941-e2c56d43a378; 000214712800011

الاتاحة: http://hdl.handle.net/10138/233220

المؤلفون: Akinrinade, Oyediran, Ollila, Laura, Vattulainen, Sanna, Tallila, Jonna, Gentile, Massimiliano, Salmenpera, Pertteli, Koillinen, Hannele, Kaartinen, Maija, Nieminen, Markku S., Myllykangas, Samuel, Alastalo, Tero-Pekka, Koskenvuo, Juha W., Helio, Tiina

المساهمون: Children's Hospital, Clinicum, Medicum, Department of Medical and Clinical Genetics, Department of Medicine, Kardiologian yksikkö, Lastentautien yksikkö, University of Helsinki, Department of Diagnostics and Therapeutics, HUS Children and Adolescents

مصطلحات موضوعية: Dilated cardiomyopathy, Genetics, Diagnosis, DNA-SEQUENCING DATA, HYPERTROPHIC CARDIOMYOPATHY, CARDIAC TRANSPLANTATION, CARDIOVASCULAR-DISEASE, CLINICAL EXOME, MUTATIONS, HEART, RECOMMENDATIONS, STATEMENT, FRAMEWORK, General medicine, internal medicine and other clinical medicine, Biomedicine

وصف الملف: application/pdf

Relation: This work was supported by grants from the Sigrid Juselius Foundation; Finnish Foundation for Pediatric Research; Finnish Foundation for Cardiovascular Research; Finnish Cultural Foundation; Aarne Koskelo Foundation; Ida Montin Foundation; Clinical Research funding of Turku University Hospital (E.V.O.); Helsinki University Hospital [TYH2014208, TYH2012120, TYH7106, TYH200921, TYH4241, TYH2205, and TYH0231]; and Blueprint Genetics. Funding to pay the Open Access publication charges for this article was provided by Blueprint Genetics.; Akinrinade , O , Ollila , L , Vattulainen , S , Tallila , J , Gentile , M , Salmenpera , P , Koillinen , H , Kaartinen , M , Nieminen , M S , Myllykangas , S , Alastalo , T-P , Koskenvuo , J W & Helio , T 2015 , ' Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy ' , European Heart Journal , vol. 36 , no. 34 , pp. 2327-2337 . https://doi.org/10.1093/eurheartj/ehv253; http://hdl.handle.net/10138/225092; fe90f18b-c6f1-4d28-acfb-86f271aec581; 84941203449; 000361206300016

الاتاحة: http://hdl.handle.net/10138/225092

المؤلفون: Pöyhönen, Pauli, Hiippala, Anita, Ollila, Laura, Kaasalainen, Touko, Hänninen, Helena, Helio, Tiina, Tallila, Jonna, Vasilescu, Catalina, Kivistö, Sari Marjut, Ojala, Tiina, Holmstrom, Miia

المساهمون: Clinicum, Department of Medicine, Kardiologian yksikkö, Children's Hospital, Department of Diagnostics and Therapeutics, Research Programs Unit, HUS Children and Adolescents

مصطلحات موضوعية: PARKINSON-WHITE-SYNDROME, FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CONDUCTION SYSTEM DISEASE, GLYCOGEN-STORAGE-DISEASE, CARDIAC-HYPERTROPHY, DIASTOLIC FUNCTION, MYOCARDIAL T1, DIAGNOSIS, IDENTIFICATION, PREEXCITATION, General medicine, internal medicine and other clinical medicine, Surgery, anesthesiology, intensive care, radiology

وصف الملف: application/pdf

Relation: We would like to acknowledge all the patients who participated in this study and research nurse Sini Weckstrom for assistance. PP received a grant from Ida Montin Foundation, TH received grants from the Finnish Foundation for Cardiovascular Research, Finnish Medical Foundation, Aarno Koskelo Foundation, and the special governmental subsidy (2014208) for health sciences research of the University Hospital of Helsinki. SK received a grant from the special governmental subsidy (YLD8114001) for health sciences research of the University Hospital of Helsinki.; Pöyhönen , P , Hiippala , A , Ollila , L , Kaasalainen , T , Hänninen , H , Helio , T , Tallila , J , Vasilescu , C , Kivistö , S M , Ojala , T & Holmstrom , M 2015 , ' Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations ' , Journal of Cardiovascular Magnetic Resonance , vol. 17 , 89 . https://doi.org/10.1186/s12968-015-0192-3; ORCID: /0000-0002-5391-2666/work/39284201; ORCID: /0000-0001-9092-7763/work/68616943; ORCID: /0000-0002-3031-5391/work/97324051; http://hdl.handle.net/10138/158376; 3e0072b7-5fb0-47f0-bd74-337117ad6e92; 84945133676; 000364017600001

الاتاحة: http://hdl.handle.net/10138/158376

المؤلفون: Vattulainen, Sanna, Aho, Joonas, Salmenperä, Pertteli, Bruce, Siina, Tallila, Jonna, Gentile, Massimiliano, Sankelo, Marja, Laitinen, Tarja, Koskenvuo, Juha W., Alastalo, Tero‐Pekka, Myllykangas, Samuel

المساهمون: Sigrid Jusélius Foundation, Academy of Finland, Finnish Medical Foundation, Finnish Foundation for Pediatric Research, Finnish Foundation for Cardiovascular Research, Turku University Hospital, Blueprint Genetics

المصدر: Molecular Genetics & Genomic Medicine ; volume 3, issue 4, page 354-362 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.147
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.147
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.147

المؤلفون: Schleit, Jennifer, Valori, Miko, Kytola, Ville, Siivonen, Pauli, Salmenperä, Pertteli, Gentile, Massimiliano, Sistonen, Johanna, Tallila, Jonna, Liaquat, Khalida, Koskenvuo, Juha, Alastalo, Tero-Pekka, Isokallio, Marita

المصدر: Molecular Genetics and Metabolism ; volume 132, page S229 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/s1096-7192(21)00435-2
https://api.elsevier.com/content/article/PII:S1096719221004352?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719221004352?httpAccept=text/plain

المؤلفون: Paul, Dirk S., Nisbet, James P., Yang, Tsun-Po, Meacham, Stuart, Rendon, Augusto, Hautaviita, Katta, Tallila, Jonna, White, Jacqui, Tijssen, Marloes R., Sivapalaratnam, Suthesh, Basart, Hanneke, Trip, Mieke D., Göttgens, Berthold, Soranzo, Nicole, Ouwehand, Willem H., Deloukas, Panos

المساهمون: Copenhaver, Gregory P.

المصدر: PLoS Genetics ; volume 7, issue 6, page e1002139 ; ISSN 1553-7404

الاتاحة: http://dx.doi.org/10.1371/journal.pgen.1002139
http://dx.plos.org/10.1371/journal.pgen.1002139

المؤلفون: Paul, Dirk S., Nisbet, James P., Yang, Tsun-Po, Meacham, Stuart, Rendon, Augusto, Hautaviita, Katta, Tallila, Jonna, White, Jacqui, Tijssen, Marloes R., Sivapalaratnam, Suthesh, Basart, Hanneke, Trip, Mieke D., Göttgens, Berthold, Soranzo, Nicole, Ouwehand, Willem H., Deloukas, Panos

المساهمون: Copenhaver, Gregory P.

المصدر: PLoS Genetics ; volume 7, issue 7 ; ISSN 1553-7404

الاتاحة: http://dx.doi.org/10.1371/annotation/5d0c3be4-6f34-420a-960f-0a880bbf6128

المؤلفون: Tallila, Jonna, Jakkula, Eveliina, Peltonen, Leena, Salonen, Riitta, Kestilä, Marjo

المصدر: The American Journal of Human Genetics ; volume 82, issue 6, page 1361-1367 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2008.05.004
https://api.elsevier.com/content/article/PII:S0002929708003121?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929708003121?httpAccept=text/plain

المؤلفون: Tommiska, Johanna, Seal, Sheila, Renwick, Anthony, Barfoot, Rita, Baskcomb, Linda, Jayatilake, Hiran, Bartkova, Jirina, Tallila, Jonna, Kaare, Milja, Tamminen, Anitta, Heikkilä, Päivi, Evans, D. Gareth, Eccles, Diana, Aittomäki, Kristiina, Blomqvist, Carl, Bartek, Jiri, Stratton, Michael R., Nevanlinna, Heli, Rahman, Nazneen, Ardern-Jones, A., Belk, R., Berg, J., Bradshaw, N., Brice, G., Brady, A., Brewer, C., Bullman, B., Cetnarsryj, R., Chapman, C., Cole, T., Crawford, G., Cummings, C., Davidson, R., Donaldson, A., Dorkins, H., Eeles, R., Emslie, F., Evans, G., Goff, S., Gray, J., Greenhalgh, L., Gregory, H., Haites, N., Hodgson, S., Homfray, T., Houlston, R., Izatt, L., Jackson, L., Jeffers, L., Lalloo, F., Longmuir, M., McBride, D., Mackay, J., Magee, A., Mansour, S., Morrison, P., Murday, V., Paterson, J., Porteous, M., Rahman, N., Rogers, M., Rowe, S., Schofield, A., Shea-Simmonds, J., Side, L., Snadden, L.

المصدر: Tommiska , J , Seal , S , Renwick , A , Barfoot , R , Baskcomb , L , Jayatilake , H , Bartkova , J , Tallila , J , Kaare , M , Tamminen , A , Heikkilä , P , Evans , D G , Eccles , D , Aittomäki , K , Blomqvist , C , Bartek , J , Stratton , M R , Nevanlinna , H , Rahman , N , Ardern-Jones , A , Belk , R , Berg , J , Bradshaw , N , Brice , G , Brady ....

مصطلحات موضوعية: Breast cancer, Cancer susceptibility, Familial, RAD50

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/4bebabfe-1e86-4b74-9b26-54505cd590f5
https://doi.org/10.1002/ijc.21738

المؤلفون: Hiippala, Anita, Vasilescu, Catalina, Tallila, Jonna, Alastalo, Tero‐Pekka, Paetau, Anders, Tyni, Tiina, Suomalainen, Anu, Euro, Liliya, Ojala, Tiina

المصدر: American Journal of Medical Genetics Part A ; volume 170, issue 6, page 1433-1438 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.37596
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.37596
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37596

المؤلفون: Hiippala, Anita, Tallila, Jonna, Myllykangas, Samuel, Koskenvuo, Juha W, Alastalo, Tero‐Pekka

المصدر: American Journal of Medical Genetics Part A ; volume 167, issue 3, page 629-634 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.36924
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.36924
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.36924

المؤلفون: JURCUȚ, RUXANDRA OANA, BASTIAN, ALEXANDRA EUGENIA, MILITARU, SEBASTIAN, POPA, AURA, MANOLE, EMILIA, POPESCU, BOGDAN ALEXANDRU, TALLILA, JONNA, POPESCU, BOGDAN OVIDIU, GINGHINĂ, CARMEN DOINA

المصدر: Romanian Journal of Morphology & Embryology; 2018, Vol. 59 Issue 2, p225-230, 6p

المؤلفون: Nousiainen, Heidi O, Kestilä, Marjo, Pakkasjärvi, Niklas, Honkala, Heli, Kuure, Satu, Tallila, Jonna, Vuopala, Katri, Ignatius, Jaakko, Herva, Riitta, Peltonen, Leena

المصدر: Nature Genetics ; volume 40, issue 2, page 155-157 ; ISSN 1061-4036 1546-1718

الاتاحة: http://dx.doi.org/10.1038/ng.2007.65
http://www.nature.com/articles/ng.2007.65.pdf
http://www.nature.com/articles/ng.2007.65

المؤلفون: Tallila, Jonna

المساهمون: University of Helsinki, Faculty of Biosciences, Department of Biological and Environmental Sciences, Genetics, National Public Health Institute, National Institute for Health and Welfare, Helsingin yliopisto, biotieteellinen tiedekunta, bio- ja ympäristötieteiden laitos, Helsingfors universitet, biovetenskapliga fakulteten, institutionen för bio- och miljövetenskaper, Pöyhönen, Minna, Kestilä, Marjo

مصطلحات موضوعية: perinnöllisyystiede

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1593::eab63fa6308af111a762e4398613cd8e
http://hdl.handle.net/10138/21947

المؤلفون: Kyttälä, Mira, Tallila, Jonna, Salonen, Riitta, Kopra, Outi, Kohlschmidt, Nicolai, Paavola-Sakki, Paulina, Peltonen, Leena, Kestilä, Marjo

المصدر: Nature Genetics ; volume 38, issue 2, page 155-157 ; ISSN 1061-4036 1546-1718

الاتاحة: http://dx.doi.org/10.1038/ng1714
http://www.nature.com/articles/ng1714.pdf
http://www.nature.com/articles/ng1714