المؤلفون: Tiensuu, Heli, Haapalainen, Antti M., Tissarinen, Pinja, Pasanen, Anu, Määttä, Tomi A., Huusko, Johanna M., Ohlmeier, Steffen, Bergmann, Ulrich, Ojaniemi, Marja, Muglia, Louis J., Hallman, Mikko, Rämet, Mika

المساهمون: Tampere University, Clinical Medicine

مصطلحات موضوعية: 3111 Biomedicine, 3123 Gynaecology and paediatrics

وصف الملف: fulltext

Relation: 141; 20; https://trepo.tuni.fi/handle/10024/140252

الاتاحة: https://trepo.tuni.fi/handle/10024/140252
https://doi.org/10.1186/s12916-022-02339-8

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: Huusko, Johanna M., Tiensuu, Heli, Haapalainen, Antti M., Pasanen, Anu, Tissarinen, Pinja, Karjalainen, Minna K., Zhang, Ge, Christensen, Kaare, Ryckman, Kelli K., Jacobsson, Bo, Murray, Jeffrey C., Kingsmore, Stephen F., Hallman, Mikko, Muglia, Louis J., Rämet, Mika

المساهمون: Tampere University, Clinical Medicine

مصطلحات موضوعية: 3111 Biomedicine, 3123 Gynaecology and paediatrics

وصف الملف: fulltext

Relation: 17115; 11; https://trepo.tuni.fi/handle/10024/134230; URN:NBN:fi:tuni-202109167130

الاتاحة: https://trepo.tuni.fi/handle/10024/134230
https://doi.org/10.1038/s41598-021-96374-9

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: Tiensuu, Heli, Haapalainen, Antti M., Karjalainen, Minna K., Pasanen, Anu, Huusko, Johanna M., Marttila, Riitta, Ojaniemi, Marja, Muglia, Louis J., Hallman, Mikko, Rämet, Mika

المساهمون: Barsh, Gregory S.

المصدر: PLOS Genetics ; volume 15, issue 6, page e1008107 ; ISSN 1553-7404

الاتاحة: http://dx.doi.org/10.1371/journal.pgen.1008107
http://dx.plos.org/10.1371/journal.pgen.1008107

المؤلفون: Huusko, Johanna M., Karjalainen, Minna K., Graham, Britney E., Zhang, Ge, Farrow, Emily G., Miller, Neil A., Jacobsson, Bo, Eidem, Haley R., Murray, Jeffrey C., Bedell, Bruce, Breheny, Patrick, Brown, Noah W., Bødker, Frans L., Litterman, Nadia K., Jiang, Pan-Pan, Russell, Laura, Hinds, David A., Hu, Youna, Rokas, Antonis, Teramo, Kari, Christensen, Kaare, Williams, Scott M., Rämet, Mika, Kingsmore, Stephen F., Ryckman, Kelli K., Hallman, Mikko, Muglia, Louis J.

المساهمون: Barsh, Gregory S., Lastentautien Tutkimussäätiö, University of California, San Francisco, California Preterm Birth Initiative (PTBi-CA), funded by Marc and Lynne Benioff, Orion Research Foundation, Finland, the Alma and K. A. Snellman Foundation, Oulu, Finland, Jane ja Aatos Erkon Säätiö, March of Dimes Foundation, Bill and Melinda Gates Foundation, the Fifth-Third Foundation, Eunice Kennedy Shriver National Institute of Child Health and Human Development

المصدر: PLOS Genetics ; volume 14, issue 7, page e1007394 ; ISSN 1553-7404

الاتاحة: http://dx.doi.org/10.1371/journal.pgen.1007394
http://dx.plos.org/10.1371/journal.pgen.1007394

المؤلفون: Huusko, Johanna M., Karjalainen, Minna K., Graham, Britney E., Zhang, Ge, Farrow, Emily G., Miller, Neil A., Jacobsson, Bo, Eidem, Haley R., Murray, Jeffrey C., Bedell, Bruce, Breheny, Patrick, Brown, Noah W., Bødker, Frans L., Litterman, Nadia K., Jiang, Pan-Pan, Russell, Laura, Hinds, David A., Hu, Youna, Rokas, Antonis, Teramo, Kari, Christensen, Kaare, Williams, Scott M., Rämet, Mika, Kingsmore, Stephen F., Ryckman, Kelli K., Hallman, Mikko, Muglia, Louis J.

المصدر: PLOS Genetics ; volume 14, issue 9, page e1007673 ; ISSN 1553-7404

الاتاحة: http://dx.doi.org/10.1371/journal.pgen.1007673
http://dx.plos.org/10.1371/journal.pgen.1007673

المؤلفون: Mahlman, Mari, Karjalainen, Minna K, Huusko, Johanna M, Andersson, Sture, Kari, M Anneli, Tammela, Outi K T, Sankilampi, Ulla, Lehtonen, Liisa, Marttila, Riitta H, Bassler, Dirk, Poets, Christian F, Lacaze-Masmonteil, Thierry, Danan, Claude, Delacourt, Christophe, Palotie, Aarno, Muglia, Louis J, Lavoie, Pascal M, Hadchouel, Alice, Rämet, Mika, Hallman, Mikko

المصدر: Mahlman, Mari; Karjalainen, Minna K; Huusko, Johanna M; Andersson, Sture; Kari, M Anneli; Tammela, Outi K T; Sankilampi, Ulla; Lehtonen, Liisa; Marttila, Riitta H; Bassler, Dirk; Poets, Christian F; Lacaze-Masmonteil, Thierry; Danan, Claude; Delacourt, Christophe; Palotie, Aarno; Muglia, Louis J; Lavoie, Pascal M; Hadchouel, Alice; Rämet, Mika; Hallman, Mikko (2017). Genome-wide association study of bronchopulmonary dysplasia: a potential role for variants near the CRP gene. Scientific Reports, 7(1):9271.

مصطلحات موضوعية: Clinic for Neonatology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/141033/1/Mahlman_Bassler_Variants_near_CRP_ScientificReports_2017_Neo_USZ.pdf; info:pmid/28839172; urn:issn:2045-2322

الاتاحة: https://www.zora.uzh.ch/id/eprint/141033/
https://www.zora.uzh.ch/id/eprint/141033/1/Mahlman_Bassler_Variants_near_CRP_ScientificReports_2017_Neo_USZ.pdf

المؤلفون: Zhang, Ge, Feenstra, Bjarke, Bacelis, Jonas, Liu, Xueping, Muglia, Lisa M, Juodakis, Julius, Miller, Daniel E, Litterman, Nadia, Jiang, Pan-Pan, Russell, Laura, Hinds, David A, Hu, Youna, Weirauch, Matthew T, Chen, Xiaoting, Chavan, Arun R, Wagner, Günter P, Pavličev, Mihaela, Nnamani, Mauris C, Maziarz, Jamie, Karjalainen, Minna K, Rämet, Mika, Sengpiel, Verena, Geller, Frank, Boyd, Heather A, Palotie, Aarno, Momany, Allison, Bedell, Bruce, Ryckman, Kelli K, Huusko, Johanna M, Forney, Carmy R, Kottyan, Leah C, Hallman, Mikko, Teramo, Kari, Nohr, Ellen A, Davey Smith, George, Melbye, Mads, Jacobsson, Bo, Muglia, Louis J

المصدر: Zhang , G , Feenstra , B , Bacelis , J , Liu , X , Muglia , L M , Juodakis , J , Miller , D E , Litterman , N , Jiang , P-P , Russell , L , Hinds , D A , Hu , Y , Weirauch , M T , Chen , X , Chavan , A R , Wagner , G P , Pavličev , M , Nnamani , M C , Maziarz , J , Karjalainen , M K , Rämet , M , Sengpiel , V , Geller , F ....

مصطلحات موضوعية: Adenylyl Cyclases/genetics, Datasets as Topic, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Gestational Age, Humans, Peptide Elongation Factors/genetics, Phenotype, Polymorphism, Single Nucleotide, Pregnancy, Premature Birth/genetics, Receptor, Angiotensin, Type 2/genetics, Regression Analysis, Trans-Activators/genetics, Wnt4 Protein/genetics, ras Proteins/genetics

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/6fd4a1f5-c578-4a2a-9f8d-cfa8ec62d964
https://doi.org/10.1056/NEJMoa1612665
https://findresearcher.sdu.dk/ws/files/145573114/nbnfi_fe201709288780.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5561422/

المؤلفون: Tiensuu, Heli, Haapalainen, Antti M., Tissarinen, Pinja, Pasanen, Anu, Määttä, Tomi A., Huusko, Johanna M., Ohlmeier, Steffen, Bergmann, Ulrich, Ojaniemi, Marja, Muglia, Louis J., Hallman, Mikko, Rämet, Mika

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32963b3293ab93de15804dd2452a9585

المؤلفون: Huusko, Johanna M., Karjalainen, Minna K., Mahlman, Mari, Haataja, Ritva, Kari, M. Anneli, Andersson, Sture, Toldi, Gergely, Tammela, Outi, Ramet, Mika, Lavoie, Pascal M., Hallman, Mikko

المساهمون: Children's Hospital, Clinicum, Lastentautien yksikkö, HUS Children and Adolescents

مصطلحات موضوعية: Bronchopulmonary dysplasia, Epistasis, Glucocorticoid receptor, Interleukin, Preterm infant, Single nucleotide polymorphism, SINGLE-NUCLEOTIDE POLYMORPHISMS, NECROSIS-FACTOR-ALPHA, PRETERM INFANTS, POPULATION, ASSOCIATION, INTERLEUKIN-6, HERITABILITY, GENETICS, RISK, Biomedicine

وصف الملف: application/pdf

Relation: This work was supported by the Alma and K. A. Snellman Foundation, Oulu, Finland (JMH, MKK), the Emil Aaltonen Foundation (JMH, MKK), the Foundation of Pediatric Research in Finland (MKK, RH), the Academy of Finland (grant number 126662, MH), the Sigrid Juselius Foundation (MH), and Competitive Research Funding of the Tampere University Hospital (MR). PML is supported by Michael Smith Foundation for Health Research Career Investigator and Child & Family Research Institute Clinician-Scientist Awards. The Canadian recruitment portion of this study was funded by a British Columbia Lung Association Grant (PML).; http://hdl.handle.net/10138/164107; 84923864877; 000345714200001

الاتاحة: http://hdl.handle.net/10138/164107

المؤلفون: Huusko, Johanna M, Karjalainen, Minna K, Mahlman, Mari, Haataja, Ritva, Kari, M A, Andersson, Sture, Toldi, Gergely, Tammela, Outi, Rämet, Mika, Lavoie, Pascal M, Hallman, Mikko, on behalf of Gen-BPD Study Group

وصف الملف: text/xml; application/pdf

Relation: BMC Medical Genetics. 2014 Nov 01;15(1):120; http://hdl.handle.net/10138/144113

الاتاحة: http://hdl.handle.net/10138/144113

المؤلفون: Karjalainen, Minna K., Huusko, Johanna M., Ulvila, Johanna, Sotkasiira, Jenni, Luukkonen, Aino, Teramo, Kari, Plunkett, Jevon, Anttila, Verneri, Palotie, Aarno, Haataja, Ritva, Muglia, Louis J., Hallman, Mikko

المساهمون: Department of Obstetrics and Gynecology, Institute for Molecular Medicine Finland, Department of Medical and Clinical Genetics, HUS Gynecology and Obstetrics, Genomics of Neurological and Neuropsychiatric Disorders

مصطلحات موضوعية: Biomedicine

وصف الملف: application/pdf

Relation: Karjalainen , M K , Huusko , J M , Ulvila , J , Sotkasiira , J , Luukkonen , A , Teramo , K , Plunkett , J , Anttila , V , Palotie , A , Haataja , R , Muglia , L J & Hallman , M 2012 , ' A Potential Novel Spontaneous Preterm Birth Gene, AR, Identified by Linkage and Association Analysis of X Chromosomal Markers ' , PLoS One , vol. 7 , no. 12 , pp. Article Number: e51378 . https://doi.org/10.1371/journal.pone.0051378; Bibtex: urn:7bb1a16ddb2f43166dc7acef30e1ae93; ORCID: /0000-0002-2527-5874/work/97266665; http://hdl.handle.net/10138/42091; 24af5efd-a4cf-47a9-b5c9-a04470caede3; 84870778839; 000312588200122

الاتاحة: http://hdl.handle.net/10138/42091

المؤلفون: Taponen, Saija, Huusko, Johanna M., Petäjä-Repo, Ulla E., Paananen, Reija, Guttentag, Susan H., Hallman, Mikko, Haataja, Ritva

المصدر: Pediatric Research ; volume 74, issue 6, page 646-651 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1038/pr.2013.151
http://www.nature.com/articles/pr2013151.pdf
http://www.nature.com/articles/pr2013151

المؤلفون: Karjalainen, Minna K., Huusko, Johanna M., Ulvila, Johanna, Sotkasiira, Jenni, Luukkonen, Aino, Teramo, Kari, Plunkett, Jevon, Anttila, Verneri, Palotie, Aarno, Haataja, Ritva, Muglia, Louis J., Hallman, Mikko

المساهمون: Mittal, Balraj

المصدر: PLoS ONE ; volume 7, issue 12, page e51378 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0051378
http://dx.plos.org/10.1371/journal.pone.0051378

المؤلفون: Karjalainen, Minna K., Huusko, Johanna M., Tuohimaa, Anu, Luukkonen, Aino, Haataja, Ritva, Hallman, Mikko

المصدر: Pediatric Research ; volume 71, issue 1, page 93-99 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1038/pr.2011.2
http://www.nature.com/articles/pr20112.pdf
http://www.nature.com/articles/pr20112

المؤلفون: Banfi, Cristina, Brioschi, Maura, Karjalainen, Minna K., Huusko, Johanna M., Gianazza, Erica, Agostoni, Piergiuseppe

المساهمون: C. Banfi, M. Brioschi, M.K. Karjalainen, J.M. Huusko, E. Gianazza, P. Agostoni

مصطلحات موضوعية: HDL, Heart failure, Oxidant index, Surfactant protein B, Cardiology and Cardiovascular Medicine, Settore MED/11 - Malattie dell'Apparato Cardiovascolare

Relation: info:eu-repo/semantics/altIdentifier/pmid/30857841; info:eu-repo/semantics/altIdentifier/wos/WOS:000464016000010; volume:285; firstpage:53; lastpage:58; numberofpages:6; journal:INTERNATIONAL JOURNAL OF CARDIOLOGY; http://hdl.handle.net/2434/632375; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85062470108

الاتاحة: http://hdl.handle.net/2434/632375
https://doi.org/10.1016/j.ijcard.2019.02.057

المؤلفون: Zhang, Ge, Feenstra, Bjarke, Bacelis, Jonas, Liu, Xueping, Muglia, Lisa M., Juodakis, Julius, Miller, Daniel E., Litterman, Nadia, Jiang, Pan Pan, Russell, Laura, Hinds, David A., Hu, Youna, Weirauch, Matthew T., Chen, Xiaoting, Chavan, Arun R., Wagner, Günter P., Pavličev, Mihaela, Nnamani, Mauris C., Maziarz, Jamie, Karjalainen, Minna K., Ramet, Mika, Sengpiel, Verena, Geller, Frank, Boyd, Heather A., Palotie, Aarno, Momany, Allison, Bedell, Bruce, Ryckman, Kelli K., Huusko, Johanna M., Forney, Carmy R., Kottyan, Leah C., Hallman, Mikko, Teramo, Kari, Nohr, Ellen A., Davey Smith, George, Melbye, Mads, Jacobsson, Bo, Muglia, Louis J.

المصدر: Zhang , G , Feenstra , B , Bacelis , J , Liu , X , Muglia , L M , Juodakis , J , Miller , D E , Litterman , N , Jiang , P P , Russell , L , Hinds , D A , Hu , Y , Weirauch , M T , Chen , X , Chavan , A R , Wagner , G P , Pavličev , M , Nnamani , M C , Maziarz , J , Karjalainen , M K , Ramet , M , Sengpiel , V , Geller , ....

Relation: https://portal.findresearcher.sdu.dk/da/publications/87adbf93-03b2-493b-8c78-c22cc05336bf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/87adbf93-03b2-493b-8c78-c22cc05336bf
https://doi.org/10.1097/01.ogx.0000530434.15441.45

المؤلفون: Huusko, Johanna M, Karjalainen, Minna K, Graham, Britney E, Jacobsson, Bo, Muglia, Louis J

المصدر: 22 ; 14 ; PLoS Genetics ; 7

وصف الملف: application/pdf

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042692/pdf/pgen.1007394.pdf; PLoS Genetics. 2018, 14 (7), .; urn:issn:1553-7390; http://hdl.handle.net/11250/2507499; https://doi.org/10.1371/ journal.pgen.1007394; cristin:1599353

الاتاحة: http://hdl.handle.net/11250/2507499
https://doi.org/10.1371/ journal.pgen.1007394