نتائج البحث - "genomic disorders"

المساهمون: Department of Human Genetics [Nijmegen], Radboud University Medical Center [Nijmegen], Department of Nephrology [Nijmegen, The Netherlands], Des Maladies Rénales Rares aux Maladies Fréquentes, Remodelage et Réparation, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Nephrology [London, UK], University College of London [London] (UCL), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Academic Renal Unit [Bristol, UK], University of Bristol [Bristol], School of Biomedicine [Manchester, UK], University of Manchester [Manchester], The research leading to these results has received funding from the European Community’s Seventh Framework Programme under grant agreement 2012-305608 'European Consortium for High-Throughput Research in Rare Kidney Diseases' (EURenOmics)' (to P.W.M., P.E.B., R.K., J.F.M.W., P.R.), by the David and Elaine Potter Charitable Foundation (to S.H.P., R.K.), by the Dutch Kidney Foundation (J.M.H., grant KJPB11.021), and by the FrenchFoundation for Medical Research (H.D., P.R., grant 2012). The French Gn-Progress cohort was supported by grants from the French Ministry of Health (PHRC AOM 00022), the Ministry of Research (Decision d’aide 01P0513), and the Biomedicine Agency (AO Recherche et Greffes 2005)., Department of Human Genetics, Department of nephrology, Remodelage et Reparation du Tissu Renal, Centre for Nephrology, Equipe 10, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Academic Renal Unit, School of Biomedicine, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), The research leading to these results has received funding from the European Community's Seventh Framework Programme under grant agreement 2012-305608 'European Consortium for High-Throughput Research in Rare Kidney Diseases' (EURenOmics)'(to P.W.M., P.E.B., R.K., J.F.M.W., P.R.), by the David and Elaine Potter Charitable Foundation (to S.H.P., R.K.), by the Dutch Kidney Foundation (J.M.H., grant KJPB11.021), and by the French Foundation for Medical Research (H.D., P.R., grant 2012). The French Gn-Progress cohort was supported by grants from the French Ministry of Health (PHRC AOM 00022), the Ministry of Research (Decision d'aide 01P0513), and the Biomedicine Agency (AO Recherche et Greffes 2005)., RONCO, Pierre, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Département de Néphrologie = Service de Néphrologie et Dialyses [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Radboud University Medical Centre [Nijmegen, The Netherlands], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Néphrologie et Dialyses [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)

المصدر: Journal of the American Society of Nephrology
Journal of the American Society of Nephrology, 2013, 24 (4), pp.677-683. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, American Society of Nephrology, 2013, 24 (4), pp.677-83. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, 2013, 24 (4), pp.677-83. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, American Society of Nephrology, 2013, 24 (4), pp.677-683. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, 24, 4, pp. 677-83
Journal of the American Society of Nephrology; Vol 24
Journal of the American Society of Nephrology, 24, 677-83

مصطلحات موضوعية: Male, MESH: Sequence Analysis, DNA, MESH: Glomerulonephritis, Membranous, 030232 urology & nephrology, Glomerulonephritis, Membranous, Exon, 0302 clinical medicine, Coding region, MESH: Genomic Structural Variation, Renal disorder [IGMD 9], MESH: Aged, Genetics, Sanger sequencing, 0303 health sciences, MESH: Middle Aged, MESH: Polymorphism, Single Nucleotide, MESH: Genetic Predisposition to Disease, General Medicine, Middle Aged, 3. Good health, Nephrology, symbols, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Female, Adult, dbSNP, Sequence analysis, Biology, Polymorphism, Single Nucleotide, Mental health [NCEBP 9], Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, symbols.namesake, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], MESH: Receptors, Phospholipase A2, Humans, Genetic Predisposition to Disease, Allele, 1000 Genomes Project, Genomic disorders and inherited multi-system disorders Molecular epidemiology [IGMD 3], Gene, Aged, 030304 developmental biology, MESH: Humans, Receptors, Phospholipase A2, MESH: Adult, Sequence Analysis, DNA, Molecular biology, MESH: Male, Genomic Structural Variation, MESH: Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b192b20a06677d3bf650e3bd66ad35fTest
https://doi.org/10.1681/asn.2012070730Test

6

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

المساهمون: Ophthalmology

المصدر: American Journal of Human Genetics, 93, 110-7
The American Journal of Human Genetics; Vol 93
American Journal of Human Genetics, 93, 1, pp. 110-7
American Journal of Human Genetics, 93(1), 110-117. Cell Press

مصطلحات موضوعية: Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, Visual Acuity, GTPase, Retinal Pigment Epithelium, Retinal Rod Photoreceptor Cells, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Genetics(clinical), Child, Genetics (clinical), Genetics, 0303 health sciences, 030305 genetics & heredity, Homozygote, Chromosome Mapping, Disease gene identification, Pedigree, Isoenzymes, Protein Transport, medicine.anatomical_structure, Codon, Nonsense, Retinitis Pigmentosa, Adult, Adolescent, Nonsense mutation, Protein Prenylation, Genes, Recessive, Biology, Retina, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Report, Retinitis pigmentosa, Ciliary rootlet, medicine, Animals, Humans, Genetic Predisposition to Disease, Cilia, Photoreceptor Connecting Cilium, Genetic Association Studies, 030304 developmental biology, Retinal pigment epithelium, Genetics and epigenetic pathways of disease Plasticity and memory [NCMLS 6], medicine.disease, Molecular biology, eye diseases, Rats, Alternative Splicing, Gene Expression Regulation, rab GTP-Binding Proteins, Protein prenylation, Rab, sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcbdd8c3d9e814ec7ff86694f085cc8cTest
https://hdl.handle.net/1765/54752Test

7

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

المؤلفون: Ernie M.H.F. Bongers, Rolph Pfundt, Marjolijn C.J. Jongmans, Eugène T P Verwiel, Koen L.I. van Gassen, Eveline J. Kamping, Yvonne F. Heijdra, Roland P. Kuiper, Frank N. van Leeuwen, Nicoline Hoogerbrugge, Ad Geurts van Kessel, Tom Vulliamy, Jayne Y. Hehir-Kwa, Marjolijn J L Ligtenberg, Liesbeth van Emst, Inderjeet Dokal

المصدر: American Journal of Human Genetics, 90, 426-33
American Journal of Human Genetics, 90, 3, pp. 426-33

مصطلحات موضوعية: Male, Telomerase, Germline, Cohort Studies, Genetics(clinical), Child, Genetics (clinical), Renal disorder [IGMD 9], Genetics, Recombination, Genetic, Mosaicism, Homozygote, Middle Aged, Age-related aspects of cancer Immune Regulation [ONCOL 2], Pedigree, Pathogenesis and modulation of inflammation [N4i 1], Child, Preschool, Female, Adult, Mitotic crossover, Adolescent, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], Mitosis, Biology, Polymorphism, Single Nucleotide, Dyskeratosis Congenita, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Telomerase RNA component, Young Adult, Germline mutation, Translational research [ONCOL 3], medicine, Humans, Cell Lineage, Allele, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], Alleles, Germ-Line Mutation, Aged, Hereditary cancer and cancer-related syndromes [ONCOL 1], Chromosome, Sequence Analysis, DNA, medicine.disease, Molecular biology, RNA, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Dyskeratosis congenita

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45f601ddb4f5674f953d3c22b0ecc29Test

8

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

المؤلفون: Justyna Paprocka, Eva Morava, Lambert P. van den Heuvel, Ron A. Wevers, Christian Thiel, Maciej Adamowicz, Ewa Jamroz, Joris A. Veltman, Richard J. Rodenburg, Sharitakoemari Timal, Christian Gilissen, Francjan J. van Spronsen, Karin Huijben, Jolanta Sykut-Cegielska, Ilse Eidhof, Ludwig Lehle, Alexander Hoischen, Christian Körner, Dirk Lefeber

المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Human Molecular Genetics, 21, 19, pp. 4151-61
Human Molecular Genetics, 21, 4151-61
Human Molecular Genetics, 21(19), 4151-4161. Oxford University Press

مصطلحات موضوعية: Male, Candidate gene, Glycosylation, Aetiology, screening and detection [ONCOL 5], Compound heterozygosity, medicine.disease_cause, SERUM, Cohort Studies, TRANSFERASE, Congenital Disorders of Glycosylation, Exome, Child, Genetics (clinical), Exome sequencing, Genetics, Mutation, DPAGT1, General Medicine, Disease gene identification, Pedigree, DEFICIENCY, DOLICHOL, Mitochondrial medicine [IGMD 8], Child, Preschool, Female, STEPS, ENZYMES, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Molecular Sequence Data, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, medicine, Humans, YEAST, BIOSYNTHESIS, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Molecular Biology, Gene, DCN NN - Brain networks and neuronal communication, Genome, Human, MUTATIONS, Infant, Proteins, Sequence Analysis, DNA, Glycostation disorders [IGMD 4], CDG, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9da8dfe4b5f3208627f62c6929d6debTest
https://hdl.handle.net/2066/107982Test

9

Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells

المؤلفون: Thea J A M van der Velden, Martijn J. Wilmer, Rosalinde Masereeuw, Elena Levtchenko, Leo A. H. Monnens, Leo A. J. Kluijtmans, Peter G. Scheffer, Lambertus P. van den Heuvel, Peter H.G.M. Willems

المساهمون: Laboratory Medicine, ICaR - Ischemia and repair

المصدر: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 643-51
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812(6), 643-651. Elsevier
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease
Wilmer, M J, Kluijtmans, L A J, van der Velden, T J, Willems, P H, Scheffer, P G, Masereeuw, R, Monnens, L A, van den Heuvel, L P & Levtchenko, E N 2011, ' Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells ', Biochimica et Biophysica Acta. Molecular Basis of Disease, vol. 1812, no. 6, pp. 643-651 . https://doi.org/10.1016/j.bbadis.2011.02.010Test
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 6, pp. 643-51
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease; Vol 1812

مصطلحات موضوعية: Male, Cystinosis, 030232 urology & nephrology, medicine.disease_cause, Kidney Tubules, Proximal, chemistry.chemical_compound, 0302 clinical medicine, Adenosine Triphosphate, Child, Cells, Cultured, Renal disorder [IGMD 9], 0303 health sciences, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Functional imaging [IGMD 1], Glutathione, 3. Good health, Renal disorder Membrane transport and intracellular motility [IGMD 9], ATP production, Redox status, Cystinosin, Child, Preschool, Molecular Medicine, Female, Oxidation-Reduction, medicine.medical_specialty, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Energy and redox metabolism [NCMLS 4], Adolescent, Cysteamine, Cystine, Renal disorder Energy and redox metabolism [IGMD 9], End stage renal disease, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Nephropathic Cystinosis, Internal medicine, medicine, Humans, Molecular Biology, 030304 developmental biology, Cell Proliferation, Infant, Epithelial Cells, medicine.disease, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Endocrinology, chemistry, Oxidative stress, Reactive Oxygen Species

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0affcf2f136725a5944fb82906ded065Test

10

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I

المؤلفون: Alice Janssen, Lambertus P. van den Heuvel, Maïlys Guillard, Eva Morava, Nina Ondruskova, Hana Hansikova, Jiri Zeman, Machiko Kadoya, Isao Yuasa, Katerina Vesela, Ron A. Wevers, Yoshinao Wada, Dirk J. Lefeber

المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 4, pp. 901-6
Journal of Inherited Metabolic Disease, 34, 901-6

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Peptide, Neuroinformatics [DCN 3], CDG - an update, medicine.disease_cause, Renal disorder Energy and redox metabolism [IGMD 9], Models, Biological, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Congenital Disorders of Glycosylation, Catalytic Domain, Genetics, medicine, Humans, Genetics(clinical), Child, Genetics (clinical), chemistry.chemical_classification, Mutation, biology, Isoelectric focusing, Transferrin, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], Molecular biology, Human genetics, Renal disorder Membrane transport and intracellular motility [IGMD 9], Isoelectric point, chemistry, Biochemistry, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, biology.protein, Isoelectric Focusing, Perception and Action Glycostation disorders [DCN 1], Protein Processing, Post-Translational, Neuraminidase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f7dcbabbbc3a6412ee94b427ea67e89Test
https://doi.org/10.1007/s10545-011-9311-yTest

تنقيح النتائج