المؤلفون: Jönsson, Åsa Lina M., Hilberg, Ole, Simonsen, Ulf, Christensen, Jane Hvarregaard, Bendstrup, Elisabeth

المصدر: Jönsson , Å L M , Hilberg , O , Simonsen , U , Christensen , J H & Bendstrup , E 2023 , ' New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review ' , Orphanet Journal of Rare Diseases , vol. 18 , 130 . https://doi.org/10.1186/s13023-023-02712-7Test

مصطلحات موضوعية: Genetic diseases, Inborn, Interstitial lung disease, Pulmonary alveolar microlithiasis, Pulmonary calcification, SLC34A2, SLC34A2 mutations, SLC34A2 variants, Solute carrier family 34 (sodium phosphate), member 2 protein, human

الإتاحة: https://doi.org/10.1186/s13023-023-02712-7Test
https://pure.au.dk/portal/da/publications/new-insights-in-the-genetic-variant-spectrum-of-slc34a2-in-pulmonary-alveolar-microlithiasis-a-systematic-reviewTest(1b9ca635-6c9e-4b34-bb55-82b4e45319b6).html
http://www.scopus.com/inward/record.url?scp=85160766861&partnerID=8YFLogxKTest

المؤلفون: Jönsson, Åsa Lina M, Hernando, Nati, Knöpfel, Thomas, Mogensen, Susie, Bendstrup, Elisabeth, Hilberg, Ole, Christensen, Jane Hvarregaard, Simonsen, Ulf, Wagner, Carsten A

المصدر: Jönsson, Åsa Lina M; Hernando, Nati; Knöpfel, Thomas; Mogensen, Susie; Bendstrup, Elisabeth; Hilberg, Ole; Christensen, Jane Hvarregaard; Simonsen, Ulf; Wagner, Carsten A (2022). Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis. Human Genomics, 16(1):13.

مصطلحات موضوعية: Institute of Physiology, 570 Life sciences, biology, 610 Medicine & health, Drug Discovery, Genetics, Molecular Biology, Molecular Medicine

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/228375/7/Accepted_manuscript_for_resubmission_final_27.2.2022.pdfTest; https://www.zora.uzh.ch/id/eprint/228375/13/40246_2022_Article_387.pdfTest; info:pmid/35443721; urn:issn:1473-9542

الإتاحة: https://doi.org/10.5167/uzh-22837510.1186/s40246-022-00387-yTest
https://www.zora.uzh.ch/id/eprint/228375Test/
https://www.zora.uzh.ch/id/eprint/228375/7/Accepted_manuscript_for_resubmission_final_27.2.2022.pdfTest
https://www.zora.uzh.ch/id/eprint/228375/13/40246_2022_Article_387.pdfTest

المؤلفون: Jönsson, Åsa Lina M., Hernando, Nati, Knöpfel, Thomas, Mogensen, Susie, Bendstrup, Elisabeth, Hilberg, Ole, Christensen, Jane Hvarregaard, Simonsen, Ulf, Wagner, Carsten A.

المصدر: Jönsson , Å L M , Hernando , N , Knöpfel , T , Mogensen , S , Bendstrup , E , Hilberg , O , Christensen , J H , Simonsen , U & Wagner , C A 2022 , ' Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis ' , Human Genomics , vol. 16 , no. 1 , 13 . https://doi.org/10.1186/s40246-022-00387-yTest

مصطلحات موضوعية: In-frame deletion, frameshift variant, nonsense variant, Pulmonary alveolar microlithiasis (PAM), SLC34A2, SLC34A2 mutations, SLC34A2 variants, Sodium-dependent phosphate transport protein 2B, NaPi-2b, NaPi-IIb, Xenopus laevis oocytes, Phosphates, Frameshift Mutation, Humans, Genetic Diseases, Inborn, Sodium-Phosphate Cotransporter Proteins, Type IIb/genetics, Lung Diseases/genetics, Calcinosis

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1186/s40246-022-00387-yTest
https://pure.au.dk/portal/da/publications/impaired-phosphate-transport-in-slc34a2-variants-in-patients-with-pulmonary-alveolar-microlithiasisTest(f5caaef1-cbef-4da0-b937-e8070d0ce26d).html
https://pure.au.dk/ws/files/329825446/s40246_022_00387_y.pdfTest
http://www.scopus.com/inward/record.url?scp=85128449479&partnerID=8YFLogxKTest

المؤلفون: Enemark, Asbjørn, Jönsson, Åsa Lina M., Kronborg-White, Sissel, Bendstrup, Elisabeth

المصدر: Enemark , A , Jönsson , Å L M , Kronborg-White , S & Bendstrup , E 2021 , ' Pulmonary alveolar microlithiasis – a review ' , Yale Journal of Biology and Medicine , vol. 94 , no. 4 , pp. 637-644 . < https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686773/pdf/yjbm_94_4_637.pdfTest >

مصطلحات موضوعية: Genetics, Microliths, Parenchymal lung disease, Pulmonary alveolar microlithiasis

الإتاحة: https://pure.au.dk/portal/da/publications/pulmonary-alveolar-microlithiasis--a-reviewTest(5fe0ddda-8a82-4f54-a583-c96ba6ff4284).html
http://www.scopus.com/inward/record.url?scp=85122032965&partnerID=8YFLogxKTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686773/pdf/yjbm_94_4_637.pdfTest

المؤلفون: Bendstrup, Elisabeth, Jönsson, Åsa Lina M.

المصدر: Bendstrup , E & Jönsson , Å L M 2020 , ' Pulmonary alveolar microlithiasis : No longer in the stone age ' , ERJ Open Research , vol. 6 , no. 3 , 00289-2020 , pp. 1-11 . https://doi.org/10.1183/23120541.00289-2020Test

العلاقة: https://pure.au.dk/portal/en/publications/eafa5ad1-788a-4c29-8ad9-2d2f50bdf2f1Test

الإتاحة: https://doi.org/10.1183/23120541.00289-2020Test
https://pure.au.dk/portal/en/publications/eafa5ad1-788a-4c29-8ad9-2d2f50bdf2f1Test
http://www.scopus.com/inward/record.url?scp=85114068119&partnerID=8YFLogxKTest

المؤلفون: Jönsson, Åsa Lina M, Bendstrup, Elisabeth, Mogensen, Susie, Kopras, Elizabeth J, McCormack, Francis X, Campo, Ilaria, Mariani, Francesca, Escribano-Montaner, Amparo, Holm, Are M, Martinez-Colls, Maria Del Mar, Pintos-Morell, Guillem, Taillé, Camille, Crestani, Bruno, Hilberg, Ole, Hvarregaard Christensen, Jane, Simonsen, Ulf

المصدر: Jönsson , Å L M , Bendstrup , E , Mogensen , S , Kopras , E J , McCormack , F X , Campo , I , Mariani , F , Escribano-Montaner , A , Holm , A M , Martinez-Colls , M D M , Pintos-Morell , G , Taillé , C , Crestani , B , Hilberg , O , Hvarregaard Christensen , J & Simonsen , U 2020 , ' Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis ' , European Respiratory Journal , vol. 55 , no. 2 . https://doi.org/10.1183/13993003.00806-2019Test

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/a2e50096-47f3-4812-b320-f0d4971b5585Test

الإتاحة: https://doi.org/10.1183/13993003.00806-2019Test
https://portal.findresearcher.sdu.dk/da/publications/a2e50096-47f3-4812-b320-f0d4971b5585Test
https://findresearcher.sdu.dk/ws/files/161754488/13993003.00806_2019.full.pdfTest

المؤلفون: Jönsson, Åsa Lina M, Hernando, Nati, Knöpfel, Thomas, Mogensen, Susie, Bendstrup, Elisabeth, Hilberg, Ole, Christensen, Jane Hvarregaard, Simonsen, Ulf, Wagner, Carsten A

المساهمون: University of Zurich, Jönsson, Åsa Lina M

المصدر: Jönsson, Å L M, Hernando, N, Knöpfel, T, Mogensen, S, Bendstrup, E, Hilberg, O, Christensen, J H, Simonsen, U & Wagner, C A 2022, ' Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis ', Human Genomics, vol. 16, 13 . https://doi.org/10.1186/s40246-022-00387-yTest
Jönsson, Å L M, Hernando, N, Knöpfel, T, Mogensen, S, Bendstrup, E, Hilberg, O, Christensen, J H, Simonsen, U & Wagner, C A 2022, ' Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis ', Human Genomics, vol. 16, no. 1, 13 . https://doi.org/10.1186/s40246-022-00387-yTest

مصطلحات موضوعية: Lung Diseases, SLC34A2 variants, In-frame deletion, frameshift variant, nonsense variant, 610 Medicine & health, Sodium-dependent phosphate transport protein 2B, NaPi-IIb, Sodium-Phosphate Cotransporter Proteins, Type IIb, 10052 Institute of Physiology, Phosphates, Lung Diseases/genetics, 1311 Genetics, Drug Discovery, 1312 Molecular Biology, Genetics, Humans, Frameshift Mutation, Molecular Biology, 3002 Drug Discovery, Genetic Diseases, Inborn, Calcinosis, SLC34A2 mutations, Pulmonary alveolar microlithiasis (PAM), Sodium-Phosphate Cotransporter Proteins, Type IIb/genetics, 1313 Molecular Medicine, 570 Life sciences, biology, Molecular Medicine, Sodium-dependent phosphate transport protein 2B, NaPi-2b, Xenopus laevis oocytes, SLC34A2

وصف الملف: Accepted_manuscript_for_resubmission_final_27.2.2022.pdf - application/pdf; 40246_2022_Article_387.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::609fe67bd0e55311c496ecb7859f018bTest
https://pubmed.ncbi.nlm.nih.gov/35443721Test

المؤلفون: Jönsson, Åsa Lina M., Hernando, Nati, Knöpfel, Thomas, Mogensen, Susie, Bendstrup, Elisabeth, Hilberg, Ole, Christensen, Jane Hvarregaard, Simonsen, Ulf, Wagner, Carsten A.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e30071af199266e47c80e551a9a3e98Test

المؤلفون: Asbjørn Enemark, Jönsson, Åsa Lina M., Sissel Kronborg-White, Elisabeth Bendstrup

المصدر: Enemark, A, Jönsson, Å L M, Kronborg-White, S & Bendstrup, E 2021, ' Pulmonary Alveolar Microlithiasis-A Review ', The Yale journal of biology and medicine, vol. 94, no. 4, pp. 637-644 . < https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686773Test/ >
Aarhus University
The Yale Journal of Biology and Medicine
Enemark, A, Jönsson, Å L M, Kronborg-White, S & Bendstrup, E 2021, ' Pulmonary alveolar microlithiasis – a review ', Yale Journal of Biology and Medicine, vol. 94, no. 4, pp. 637-644 . < https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686773/pdf/yjbm_94_4_637.pdfTest >

مصطلحات موضوعية: Lung Diseases, Biopsy, Genetic Diseases, Inborn, Calcinosis, Review, Microliths, Parenchymal lung disease, Sodium-Phosphate Cotransporter Proteins, Type IIb, Genetics, Humans, genetics, parenchymal lung disease, microliths, Pulmonary alveolar microlithiasis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9f8c84eae80202c70992aa10e203eb94Test
https://vbn.aau.dk/da/publications/34174076-47e8-4369-ae21-63554fa9f59aTest

المؤلفون: Jönsson, Åsa Lina M., Hernando, Nati, Knöpfel, Thomas, Mogensen, Susie, Bendstrup, Elisabeth, Hilberg, Ole, Christensen, Jane Hvarregaard, Simonsen, Ulf, Wagner, Carsten A.

المصدر: Human Genomics; December 2022, Vol. 16 Issue: 1