المؤلفون: Sander Groen in ’t Woud, Ilse M. Rood, Eric Steenbergen, Brigith Willemsen, Henry B. Dijkman, Michel van Geel, Jeroen Schoots, Jack F.M. Wetzels, Dorien Lugtenberg, Jeroen K.J. Deegens, Ernie M.H.F. Bongers

المصدر: Kidney Medicine, Vol 5, Iss 4, Pp 100607- (2023)

مصطلحات موضوعية: Alport syndrome, COL4A3/COL4A4, FSGS, genotype-phenotype, mono-allelic variants, type IV collagen nephropathy, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2590059523000110Test; https://doaj.org/toc/2590-0595Test

الوصول الحر: https://doaj.org/article/e2543628cf3a44b4b7497f8486a0754eTest

المؤلفون: Judith S. Verhoeven, In Y. Tan, Joost Nicolai, Rolph Pfundt, Han G. Brunner, Erik-Jan Kamsteeg, Marjolein H. Willemsen, Mariel W. A. Teunissen, Helenius J. Schelhaas, Jeroen Schoots, Alexander P.A. Stegmann, Eric Smeets, Jans S. van Ool, Petra van Mierlo, Rob P.W. Rouhl, Helger G. Yntema, Francesca M. Snoeijen-Schouwenaars, Hilde M. H. Braakman

المساهمون: MUMC+: MA Med Staf Spec Neurologie (9), MUMC+: DA KG Polikliniek (9), Klinische Neurowetenschappen, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, MUMC+: MA AIOS Neurologie (9), MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA Pat Cytologie (9)

المصدر: Epilepsia, 60, 155-164
Epilepsia, 60, 1, pp. 155-164
Epilepsy Currents
Epilepsia, 60(1), 155-164. Wiley

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, CHILDREN, Current Literature in Clinical Science, GRIN2A, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Epilepsy, 0302 clinical medicine, Epidemiology, Intellectual disability, EPIDEMIOLOGY, Exome, Child, health care economics and organizations, Exome sequencing, seizures, next generation sequencing, education.field_of_study, learning disability, ENCEPHALOPATHY, Middle Aged, Neurology, Child, Preschool, Medical genetics, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Adolescent, GENETICS, Population, Young Adult, 03 medical and health sciences, genetic diagnosis, All institutes and research themes of the Radboud University Medical Center, PEOPLE, Intellectual Disability, Exome Sequencing, medicine, Humans, Genetic Testing, education, Aged, Retrospective Studies, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, medicine.disease, 030104 developmental biology, DE-NOVO MUTATIONS, LAMOTRIGINE, Etiology, PAPER, Neurology (clinical), business, GENOMICS, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa11476e7759491e1ed295d5596c899eTest
https://doi.org/10.1111/epi.14618Test

المؤلفون: Markus Bleich, Susanne Milatz, Luke M. Shelton, Sjoerd Verkaart, Joost G. J. Hoenderop, Elisabeth A.M. Cornelissen, Jack F.M. Wetzels, Dorien Lugtenberg, Jeroen Schoots, Ernie M.H.F. Bongers, Anneke P. Bech, Tom Nijenhuis

المصدر: Journal of the American Society of Nephrology, 28, 3118-3128
Journal of the American Society of Nephrology, 28, 10, pp. 3118-3128

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, 030232 urology & nephrology, Biology, Compound heterozygosity, Bartter syndrome, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Hypocalciuria, 03 medical and health sciences, 0302 clinical medicine, Tubulopathy, Internal medicine, medicine, Mutation, Tight junction, General Medicine, Gitelman syndrome, medicine.disease, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Endocrinology, Nephrology, Paracellular transport, Renal disorders Radboud Institute for Health Sciences [Radboudumc 11], medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcb4730d6a5433aa0894868fa4b0b61dTest
https://doi.org/10.1681/asn.2016080881Test

المؤلفون: Yaping Yang, Fan Xia, Jason R. Willer, Jeroen Schoots, Wenmiao Zhu, Han G. Brunner, Richard A. Gibbs, Lisenka E.L.M. Vissers, Jillian N. Pearring, Patricia P. Hernandez, Magalie S. Leduc, Shalini N. Jhangiani, Gladys Zapata, Ernie M.H.F. Bongers, Arthur L. Beaudet, Christine M. Eng, Wu Lin Charng, Seema R. Lalani, Ronald Roepman, James R. Lupski, Lindsay C. Burrage, Mohammad K. Eldomery, Erica E. Davis, Dorien Lugtenberg, Jill A. Rosenfeld, Sonja A. de Munnik, Zeynep Coban Akdemir, Mahshid S. Azamian, Donna M. Muzny, Nicholas Katsanis

المصدر: American Journal of Human Genetics, 97, 904-13
American Journal of Human Genetics, 97, 6, pp. 904-13

مصطلحات موضوعية: Male, Inheritance Patterns, Gene Expression, medicine.disease_cause, DNA replication factor CDT1, ORC6, Exon, Missense mutation, Genetics(clinical), Growth Disorders, Genetics (clinical), Genes, Dominant, Genetics, 0303 health sciences, Mutation, biology, Protein Stability, Cell Cycle, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, Exons, Patella, Pedigree, Child, Preschool, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Heterozygote, Adolescent, RNA Splicing, Micrognathism, Molecular Sequence Data, Dwarfism, 03 medical and health sciences, Report, medicine, Humans, Amino Acid Sequence, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Gene, Congenital Microtia, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Base Sequence, Geminin, medicine.disease, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Proteolysis, biology.protein, Primordial dwarfism, Sequence Alignment

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1793e93fba43410d0caff4732fd5bde1Test
https://hdl.handle.net/2066/152097Test

المؤلفون: Ernie M H F, Bongers, Luke M, Shelton, Susanne, Milatz, Sjoerd, Verkaart, Anneke P, Bech, Jeroen, Schoots, Elisabeth A M, Cornelissen, Markus, Bleich, Joost G J, Hoenderop, Jack F M, Wetzels, Dorien, Lugtenberg, Tom, Nijenhuis

المصدر: Journal of the American Society of Nephrology : JASN. 28(10)

مصطلحات موضوعية: Male, Young Adult, Renal Tubular Transport, Inborn Errors, Adolescent, Clinical Research, Claudins, Humans, Alkalosis, Female, Hypokalemia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::84be07a3dcbb7374186345ad55ceed51Test
https://pubmed.ncbi.nlm.nih.gov/28674042Test

المؤلفون: Willie H.M. van Kuijk, Jo H. M. Berden, Jack F.M. Wetzels, Lies H. Hoefsloot, Sergio Lainez, René J. M. Bindels, Johan van der Vlag, Marijke P. Baltissen, Jeroen Schoots, Tom Nijenhuis, Julia M. Hofstra, Nine V A M Knoers, Joost G. J. Hoenderop

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

المؤلفون: Jeroen Schoots, Conny M. A. van Ravenswaaij-Arts, Marianne Lodahl, Jorieke E. H. Bergman, Lies H. Hoefsloot, Morris A. Swertz, Lisbeth Tranebjærg, Nicole Janssen, Robert M.W. Hofstra

المساهمون: Erasmus MC other, Clinical Genetics

المصدر: Human Mutation, 33(8), 1149-1160. Wiley-Liss Inc.

مصطلحات موضوعية: PHENOTYPIC SPECTRUM, INTERSTITIAL DELETION, MAJOR CAUSE, Biology, medicine.disease_cause, Chromatin remodeling, Frameshift mutation, Chromodomain, CHD7, CHARGE syndrome, DiGeorge syndrome, KALLMANN-SYNDROME, Genetics, medicine, Coding region, Animals, Humans, 22Q11.2 DELETION SYNDROME, CHOANAL ATRESIA, Genetics (clinical), Mutation, NEURAL CREST, DNA Helicases, Kallmann syndrome, CHD7 database, MOUSE MODEL, medicine.disease, Stop codon, DNA-Binding Proteins, CONGENITAL HEART-DISEASE, mutation spectrum, DIGEORGE-SYNDROME

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3be144e209fbff73dca479c2bdecbf96Test
https://hdl.handle.net/11370/5ffff28f-5b20-4eb9-bde6-ab1d601d93f1Test

المؤلفون: Lisa M. Hillen, Constance T. R. M. Stumpel, Jeroen Schoots, Ernst-Jan M. Speel, Anton Tom Tiebosch, Carine J Peutz-Koostra, Guido M.J.M. Roemen, Erik-Jan Kamsteeg

المساهمون: Genetica & Celbiologie, MUMC+: DA Pat Pathologie (9), RS: GROW - R2 - Basic and Translational Cancer Biology, Pathologie, RS: CARIM - R3.06 - The vulnerable plaque: makers and markers, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica

المصدر: Fetal and Pediatric Pathology, 35, 112-9
Fetal and Pediatric Pathology, 35, 2, pp. 112-9
Fetal and Pediatric Pathology, 35(2), 112-119. Informa Healthcare

مصطلحات موضوعية: Denys–Drash syndrome, Pathology, medicine.medical_specialty, Genes, Wilms Tumor, Nephrotic Syndrome, Tissue Fixation, Genetic counseling, congenital nephrotic syndrome, 030232 urology & nephrology, Mutation, Missense, Gene mutation, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, long-term tissue storage, medicine, Missense mutation, Humans, 030212 general & internal medicine, WT1 Proteins, Congenital nephrotic syndrome, In Situ Hybridization, Fluorescence, Paraffin Embedding, business.industry, Wilms' tumor, General Medicine, medicine.disease, Denys-Drash Syndrome, Frasier syndrome, Wilms tumor 1 suppressor gene, perinatal death, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, denys Drash syndrome, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8542515d5a92511e5915f4ce35d0e3f5Test
http://hdl.handle.net/2066/168099Test

المؤلفون: Nicole Janssen, Almer M. van der Sloot, Jorieke E. H. Bergman, Jeroen Schoots, Lies H. Hoefsloot, Conny M. A. van Ravenswaaij-Arts, Robert M.W. Hofstra, Nanna Dahl Rendtorff, Hermien E. K. de Walle, Lisbeth Tranebjærg

المساهمون: Clinical Genetics, Ethical, Legal, Social Issues in Genetics (ELSI), Reproductive Origins of Adult Health and Disease (ROAHD)

المصدر: Human Mutation, 33(8), 1251-1260. Wiley-Liss Inc.
Human Mutation, 33(8), 1251-1260. Wiley

مصطلحات موضوعية: Genotype, Kallmann syndrome, PHENOTYPIC SPECTRUM, Genetic counseling, Mutation, Missense, SEQUENCE-ALIGNMENT, Sequence alignment, genotype-phenotype correlation, Biology, DISEASE, CHD7, prediction pathogenicity, CHARGE syndrome, KALLMANN-SYNDROME, Genetics, medicine, Humans, Missense mutation, Gene, Genetics (clinical), DOUBLE CHROMODOMAINS, PROTEIN FUNCTION, MUTATIONS, missense mutation, DNA Helicases, medicine.disease, GENE, Phenotype, DNA-Binding Proteins, SUBSTITUTIONS, FORCE-FIELD, classification system

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eadede256edc7911cd5a1959dcb999aTest
https://doi.org/10.1002/humu.22106Test

المؤلفون: Hans van Bokhoven, John M. Opitz, Andrea Leitch, Stephen Brown, Jumana Y. Al-Aama, Michael B. Bober, Paul A.J. Brown, Salim Aftimos, Annick Toutain, Murray Feingold, Andrew P. Jackson, Jeroen Schoots, Ernie M.H.F. Bongers, John Dean, Alison Ross, Margaret E. Harley, I. Karen Temple, Michael Wright, Lies H. Hoefsloot, Alan Fryer, Alaa Y Edrees, James MacKenzie, Louise S. Bicknell, Carol Wise, Nine V A M Knoers, Pierre Sarda, Nikolaus Kau

المصدر: Nature genetics
Nature Genetics, 43(4), 356-359. Nature Publishing Group
Bicknell, L S, Bongers, E M H F, Leitch, A, Brown, S, Schoots, J, Harley, M E, Aftimos, S, Al-Aama, J Y, Bober, M, Brown, P A J, van Bokhoven, H, Dean, J, Edrees, A Y, Feingold, M, Fryer, A, Hoefsloot, L H, Kau, N, Knoers, N V A M, Mackenzie, J, Opitz, J M, Sarda, P, Ross, A, Temple, I K, Toutain, A, Wise, C A, Wright, M & Jackson, A P 2011, ' Mutations in the pre-replication complex cause Meier-Gorlin syndrome ', Nature Genetics, vol. 43, no. 4, pp. 356-359 . https://doi.org/10.1038/ng.775Test
Nature Genetics, 43, 356-9
Nature Genetics, 43, 4, pp. 356-9

مصطلحات موضوعية: Male, Microcephaly, Micrognathism/genetics, Origin Recognition Complex, Basal Cell Nevus Syndrome, Sequence Homology, Cell Cycle Proteins, Pre-replication complex, medicine.disease_cause, Ear/abnormalities, Patella/abnormalities, Locus heterogeneity, Origin Recognition Complex/genetics, Micrognathism, Frameshift Mutation, Growth Disorders, Renal disorder [IGMD 9], Genetics, Mutation, Nuclear Proteins, Ear, Patella, Pedigree, Amino Acid, Phenotype, Female, Functional Neurogenomics [DCN 2], Molecular Sequence Data, Mutation, Missense, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], medicine, Humans, Amino Acid Sequence, DNA Primers, Congenital Microtia, Cell Cycle Proteins/genetics, DNA Primers/genetics, Sequence Homology, Amino Acid, Base Sequence, Growth Disorders/genetics, medicine.disease, Nuclear Proteins/genetics, Haplotypes, Genetics and epigenetic pathways of disease Renal disorder [NCMLS 6], Origin recognition complex, Missense, Primordial dwarfism

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d49f6905260ccf9cf478b32ff3a75d0Test
https://doi.org/10.1038/ng.775Test