نتائج البحث - "genomic disorders"

المصدر: Nephrology, Dialysis, Transplantation, 28, 7, pp. 1830-8
Nephrology, Dialysis, Transplantation, 28, 1830-8
Nephrology, Dialysis, Transplantation, 28(7), 1830-1838. Oxford University Press

مصطلحات موضوعية: Male, Time Factors, Sequence Homology, medicine.disease_cause, TRPC6, Exon, Consanguinity, Focal segmental glomerulosclerosis, Glomerulosclerosis, Tissue engineering and pathology Renal disorder [NCMLS 3], Age of Onset, Child, Renal disorder [IGMD 9], Netherlands, Genetics, Mutation, TRPC Cation Channels/genetics, Glomerulosclerosis, Focal Segmental, Tissue engineering and pathology Auto-immunity, transplantation and immunotherapy [NCMLS 3], Middle Aged, Prognosis, Infection and autoimmunity Auto-immunity, transplantation and immunotherapy [NCMLS 1], Pedigree, Electrophysiology, Amino Acid, Nephrology, Child, Preschool, Female, Focal Segmental/etiology, Glomerular Filtration Rate, Adult, Mutation/genetics, Molecular Sequence Data, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], medicine, TRPC6 Cation Channel, Humans, Family, Amino Acid Sequence, Preschool, TRPC Cation Channels, Aged, Transplantation, Sequence Homology, Amino Acid, Glomerulosclerosis, Focal Segmental/etiology, medicine.disease, Membrane transport and intracellular motility Renal disorder [NCMLS 5], HEK293 Cells, Age of onset, Nephrotic syndrome, Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60d6900bf75a117ae63c6d0fba4ca57bTest
https://doi.org/10.1093/ndt/gfs572Test

6

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

المؤلفون: Twigg, SR, Babbs, C, van den Elzen, ME, Goriely, A, Taylor, S, McGowan, SJ, Giannoulatou, E, Lonie, L, Ragoussis, J, Sadighi Akha, E, Knight, SJ, Zechi-Ceide, RM, Hoogeboom, JA, Pober, BR, Toriello, HV, Wall, SA, Rita Passos-Bueno, M, Brunner, HG, Mathijssen, IM, Wilkie, AO

المساهمون: Plastic and Reconstructive Surgery and Hand Surgery

المصدر: Human Molecular Genetics
Human Molecular Genetics, 22, 1654-62
Human Molecular Genetics, 22, 8, pp. 1654-62
Human Molecular Genetics, 22(8), 1654-1662. Oxford University Press

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6454c4691ce436a971e3508f0b88a145Test
http://europepmc.org/articles/PMC3605834Test

7

Adult and paediatric patients with minimal change nephrotic syndrome show no major alterations in glomerular expression of sulphated heparan sulphate domains

المؤلفون: Toin H. van Kuppevelt, Mabel J. van den Hoven, Joost F.M. Lensen, Marinka A.H. Bakker, Tessa J.M. Wijnhoven, Gerarda Navis, Leo A. H. Monnens, Johan van der Vlag, Lambert P. van den Heuvel, Jo H. M. Berden, Andrea B. Kramer, Jack F.M. Wetzels, Joyce Geelen, Angelique L.W.M.M. Rops

المساهمون: Lifestyle Medicine (LM), Groningen Kidney Center (GKC), Vascular Ageing Programme (VAP)

المصدر: Nephrology Dialysis Transplantation, 22(10), 2886-2893. Oxford University Press
Nephrology, Dialysis, Transplantation, 22, 10, pp. 2886-93
Nephrology, Dialysis, Transplantation, 22, 2886-93

مصطلحات موضوعية: Male, Nephrotic Syndrome, sulphation, 111 007 Freezing of gait in Parkinson Disease, Biopsy, Kidney Glomerulus, urologic and male genital diseases, FOCAL SEGMENTAL GLOMERULOSCLEROSIS, Focal segmental glomerulosclerosis, heparan sulphate, Medicine, 111 000 Intention & Action, CHAINS, Child, Renal disorder [IGMD 9], Kidney, Proteinuria, Podocytes, Glomerular basement membrane, PROTEINURIA, Glomerulonephritis, Middle Aged, Mitochondrial medicine [IGMD 8], medicine.anatomical_structure, Nephrology, Child, Preschool, DISEASES, Female, medicine.symptom, Infection and autoimmunity [NCMLS 1], Adult, medicine.medical_specialty, kidney, Energy and redox metabolism [NCMLS 4], Urinary system, immunofluorescence staining, Auto-immunity, transplantation and immunotherapy [N4i 4], Models, Biological, Genomic disorders and inherited multi-system disorders [IGMD 3], Translational research [ONCOL 3], Internal medicine, minimal change nephrotic syndrome, Iron metabolism [IGMD 7], Animals, Humans, Heparanase, Rats, Wistar, SIALIC-ACID, Aged, Transplantation, business.industry, urogenital system, Tissue engineering and pathology [NCMLS 3], medicine.disease, Rats, Renal disorders [UMCN 5.4], Endocrinology, Gene Expression Regulation, Doxorubicin, Heparitin Sulfate, MEMBRANE, business, Nephrotic syndrome, Immunity, infection and tissue repair [NCMLS 1]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5b0a22f9e346fd7b030155780700c0aTest
https://research.rug.nl/en/publications/7a4b466c-5c17-476d-83b7-f34b577748ecTest

8

Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes

المؤلفون: Carolina Perez-Iratxeta, Martin Oti, Adebowale Adeyemo, Euan Adie, Miguel A. Andrade-Navarro, Christos A. Ouzounis, Nicki Tiffin, Winston Hide, Frances Turner, Marc A. van Driel, Mary-Elizabeth Patti, Nuria Lopez-Bigas, Han G. Brunner, Colin A. Semple

المصدر: Nucleic Acids Research, 34, 3067-81
Nucleic Acids Research, 34, 10, pp. 3067-81
Nucleic Acids Research
ResearcherID
Tiffin, N, Adie, E, Turner, F, Brunner, H G, van Driel, M A, Oti, M, Lopez-Bigas, N, Ouzounis, C, Perez-Iratxeta, C, Andrade-Navarro, M A, Adeyemo, A, Patti, M E, Semple, C A M & Hide, W 2006, ' Computational disease gene identification : a concert of methods prioritizes type 2 diabetes and obesity candidate genes ', Nucleic Acids Research, vol. 34, no. 10, pp. 3067-81 . https://doi.org/10.1093/nar/gkl381Test

مصطلحات موضوعية: Candidate gene, Genetics and epigenetic pathways of disease [NCMLS 6], Genetic Linkage, Bioinformatics, 030209 endocrinology & metabolism, BCKDHA, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, 0302 clinical medicine, Genetic linkage, Genetics, medicine, Humans, Genetic Predisposition to Disease, Obesity, Survey and Summary, Molecular Biology, Gene, 030304 developmental biology, Genetic association, Internet, 0303 health sciences, Computational Biology, medicine.disease, Disease gene identification, Genetic defects of metabolism [UMCN 5.1], Diabetes Mellitus, Type 2, Genes, Polygene, Cellular energy metabolism [UMCN 5.3], Software

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::232ba8d1a1aeb531a5d6faf0d3bc9f80Test

تنقيح النتائج