نتائج البحث - "Materna Kiryluk, Anna"

1

دورية أكاديمية

Surveillance of multiple congenital anomalies:searching for new associations

المصدر: Morris , J K , Bergman , J E H , Barisic , I , Wellesley , D , Tucker , D , Limb , E , Addor , M C , Cavero-Carbonell , C , Matias Dias , C , Draper , E S , Echevarría-González-de-Garibay , L J , Gatt , M , Klungsøyr , K , Lelong , N , Luyt , K , Materna-Kiryluk , A , Nelen , V , Neville , A , Perthus , I , Pierini , A , Randrianaivo-Ranjatoelina , H , Rankin , J , Rissmann , A , ....

مصطلحات موضوعية: Abnormalities, Multiple, Congenital Abnormalities/diagnosis, Databases, Factual, Europe/epidemiology, Humans, Prevalence, Registries, Syndrome, Teratogens

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/d5ae188d-67af-4c7c-8637-bf67042f1b5fTest

الإتاحة: https://doi.org/10.1038/s41431-023-01502-wTest
https://portal.findresearcher.sdu.dk/da/publications/d5ae188d-67af-4c7c-8637-bf67042f1b5fTest
https://findresearcher.sdu.dk/ws/files/259208871/Open_Access_Version.pdfTest

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2

دورية أكاديمية

Surveillance of multiple congenital anomalies; searching for new associations

المساهمون: St George’s University Hospitals, University Medical Center Groningen Groningen (UMCG), University of Zagreb, University of Southampton, Public Health Wales Cardiff, Royaume uni, Université de Lausanne = University of Lausanne (UNIL), Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana Espagne (FISABIO), Instituto Nacional de Saùde Dr Ricardo Jorge Portugal (INSA), University of Leicester, Directorate for Health Information and Research Pietà, Malta (DHIR), University of Bergen (UiB), Obstetrical, Perinatal and Pediatric Epidemiology, Centre for Research in Epidemiology and Statistics, Conservatoire National des Arts et Métiers CNAM (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Conservatoire National des Arts et Métiers CNAM (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), University of Bristol Bristol, Poznan University of Medical Sciences Poland (PUMS), VIB-KU Leuven Center for Microbiology Leuven, Belgium, Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), Università degli Studi di Ferrara = University of Ferrara (UniFE), CHU Clermont-Ferrand, Institute of Clinical Physiology, CNR, Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Newcastle University Newcastle, Otto-von-Guericke-Universität Magdeburg = Otto-von-Guericke University Magdeburg (OVGU), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), École des Hautes Études en Santé Publique EHESP (EHESP), Health Service Executive (HSE), European Commission - Joint Research Centre Ispra (JRC), Odense University Hospital (OUH)

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38052905; hal-04341848; https://hal.science/hal-04341848Test; https://hal.science/hal-04341848/documentTest; https://hal.science/hal-04341848/file/latest.pdfTest; PUBMED: 38052905

الإتاحة: https://doi.org/10.1038/s41431-023-01502-wTest
https://hal.science/hal-04341848Test
https://hal.science/hal-04341848/documentTest
https://hal.science/hal-04341848/file/latest.pdfTest

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3

دورية أكاديمية

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

المؤلفون: Ahram, Dina F, Lim, Tze Y, Ke, Juntao, Jin, Gina, Verbitsky, Miguel, Bodria, Monica, Kil, Byum Hee, Chatterjee, Debanjana, Piva, Stacy E, Marasa, Maddalena, Zhang, Jun Y, Cocchi, Enrico, Caridi, Gianluca, Gucev, Zoran, Lozanovski, Vladimir J, Pisani, Isabella, Izzi, Claudia, Savoldi, Gianfranco, Gnutti, Barbara, Capone, Valentina P, Morello, William, Guarino, Stefano, Esposito, Pasquale, Lambert, Sarah, Radhakrishnan, Jai, Appel, Gerald B, Uy, Natalie S, Rao, Maya K, Canetta, Pietro A, Bomback, Andrew S, Nestor, Jordan G, Hays, Thomas, Cohen, David J, Finale Na, Carolina, van Wijk, Joanna A E, La Scola, Claudio, Baraldi, Olga, Tondolo, Francesco, Di Renzo, Dacia, Jamry-Dziurla, Anna, Pezzutto, Alessandro, Manca, Valeria, Mitrotti, Adele, Santoro, Domenico, Conti, Giovanni, Martino, Marida, Giordano, Mario, Gesualdo, Loreto, Zibar, Lada, Masnata, Giuseppe, Bonomini, Mario, Alberti, Daniele, La Manna, Gaetano, Caliskan, Yasar, Ranghino, Andrea, Marzuillo, Pierluigi, Kiryluk, Krzysztof, Krzemień, Grażyna, Miklaszewska, Monika, Lin, Fangming, Montini, Giovanni, Scolari, Francesco, Fiaccadori, Enrico, Arapović, Adela, Saraga, Marijan, McKiernan, James, Alam, Shumyle, Zaniew, Marcin, Szczepańska, Maria, Szmigielska, Agnieszka, Sikora, Przemysław, Drożdż, Dorota, Mizerska-Wasiak, Malgorzata, Mane, Shrikant, Lifton, Richard P, Tasic, Velibor, Latos-Bielenska, Anna, Gharavi, Ali G, Ghiggeri, Gian Marco, Materna-Kiryluk, Anna, Westland, Rik, Sanna-Cherchi, Simone

المساهمون: D.F. Ahram, T.Y. Lim, J. Ke, G. Jin, M. Verbitsky, M. Bodria, B.H. Kil, D. Chatterjee, S.E. Piva, M. Marasa, J.Y. Zhang, E. Cocchi, G. Caridi, Z. Gucev, V.J. Lozanovski, I. Pisani, C. Izzi, G. Savoldi, B. Gnutti, V.P. Capone, W. Morello, S. Guarino, P. Esposito, S. Lambert, J. Radhakrishnan, G.B. Appel, N.S. Uy, M.K. Rao, P.A. Canetta, A.S. Bomback, J.G. Nestor, T. Hay, D.J. Cohen, C. Finale Na, J.A.E. van Wijk, C. La Scola, O. Baraldi, F. Tondolo, D. Di Renzo, A. Jamry-Dziurla, A. Pezzutto, V. Manca, A. Mitrotti, D. Santoro, G. Conti, M. Martino, M. Giordano, L. Gesualdo, L. Zibar, G. Masnata, M. Bonomini, D. Alberti, G. La Manna, Y. Caliskan, A. Ranghino, P. Marzuillo, K. Kiryluk, G. Krzemień, M. Miklaszewska, F. Lin, G. Montini, F. Scolari, E. Fiaccadori, A. Arapović, M. Saraga, J. Mckiernan, S. Alam, M. Zaniew, M. Szczepańska, A. Szmigielska, P. Sikora, D. Drożdż, M. Mizerska-Wasiak, S. Mane, R.P. Lifton, V. Tasic, A. Latos-Bielenska, A.G. Gharavi, G.M. Ghiggeri, A. Materna-Kiryluk, R. Westland, S. Sanna-Cherchi

مصطلحات موضوعية: Settore MED/38 - Pediatria Generale e Specialistica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36995132; info:eu-repo/semantics/altIdentifier/wos/WOS:001030807200017; journal:JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY; https://hdl.handle.net/2434/970261Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85160965727

الإتاحة: https://doi.org/10.1681/ASN.0000000000000132Test
https://hdl.handle.net/2434/970261Test

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4

دورية أكاديمية

Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries

مصطلحات موضوعية: Congenital Anomalies, Vascular Disruption, Maternal Age, EUROCAT, European Surveillance of Congenital Anomalies, Europe, RENAC, Registo Nacional de Anomalias Congénitas, Estados de Saúde e de Doença, Observação em Saúde e Vigilância, Portugal

العلاقة: Birth Defects Res . 2022 Dec 1;114(20):1417-1426. doi:10.1002/bdr2.2122. Epub 2022 Nov 11.; http://hdl.handle.net/10400.18/8409Test

الإتاحة: https://doi.org/10.1002/bdr2.2122Test
http://hdl.handle.net/10400.18/8409Test

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5

دورية أكاديمية

A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus

المؤلفون: Sowińska-Seidler, Anna, Socha, Magdalena, Szoszkiewicz, Anna, Materna-Kiryluk, Anna, Jamsheer, Aleksander

المصدر: Frontiers in Molecular Biosciences ; volume 10 ; ISSN 2296-889X

مصطلحات موضوعية: Biochemistry, Genetics and Molecular Biology (miscellaneous), Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.3389/fmolb.2023.1250714Test

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6

دورية أكاديمية

Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants

المؤلفون: Walczak-Sztulpa, Joanna, Wawrocka, Anna, Kuszel, Łukasz, Pietras, Paulina, Leśniczak-Staszak, Marta, Andrusiewicz, Mirosław, Krawczyński, Maciej R., Latos-Bieleńska, Anna, Pawlak, Marta, Grenda, Ryszard, Materna-Kiryluk, Anna, Oud, Machteld M., Szaflarski, Witold

المصدر: Frontiers in Molecular Biosciences ; volume 10 ; ISSN 2296-889X

مصطلحات موضوعية: Biochemistry, Genetics and Molecular Biology (miscellaneous), Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.3389/fmolb.2023.1285790Test

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7

دورية أكاديمية

Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries

المساهمون: St George's, University of London, University of Southampton, University Medical Center Groningen Groningen (UMCG), European Commission - Joint Research Centre Ispra (JRC), Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital Lausanne (CHUV), Instituto Nacional de Saùde Dr Ricardo Jorge Portugal (INSA), Medical University of Graz, University of Zagreb, Norwegian Institute of Public Health Oslo (NIPH), Obstetrical, Perinatal and Pediatric Epidemiology, Centre for Research in Epidemiology and Statistics, Conservatoire National des Arts et Métiers CNAM (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Conservatoire National des Arts et Métiers CNAM (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Poznan University of Medical Sciences Poland (PUMS), Università degli Studi di Ferrara = University of Ferrara (UniFE), Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), Newcastle University Newcastle, Otto-von-Guericke-Universität Magdeburg = Otto-von-Guericke University Magdeburg (OVGU), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou

المصدر: ISSN: 2472-1727.

مصطلحات موضوعية: anomalies, congenital, disruption, surveillance, vascular, MESH: Pregnancy, MESH: Female, MESH: Humans, MESH: Maternal Age, MESH: Gastroschisis, MESH: Prevalence, MESH: Europe, MESH: United Kingdom, MESH: Cardiovascular Abnormalities, MESH: Vascular Malformations, [SDV]Life Sciences [q-bio]