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1Academic Journal
المؤلفون: Iwan C. Meij, Maria Del Carmen Seleme, Hiroki Kano, Konstantinos Nikopoulos, Lies H. Hoefsloot, Erik A. Sistermans, Ilse J. De Wijs, Arijit Mukhopadhyay, Astrid S. Plomp, Haig H. Kazazian, Frans P. M. Cremers
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.329.8053; http://hmg.oxfordjournals.org/content/16/13/1587.full.pdf
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المؤلفون: Ilse Feenstra, Marieke F. van Dooren, Marie José H. Van Den Boogaard, Rolph Pfundt, Stefan H. Lelieveld, Celia Zazo Seco, Henricus P. M. Kunst, Ilse J. de Wijs, Christian Gilissen, Saskia M. Maas, Arjan C. Houweling, Saskia Tamminga, Astrid S Plomp, Steven Castelein, Helger G. Yntema, Margit Schraders, Els K. Vanhoutte, Ronald J.C. Admiraal, Sarina G. Kant, Suzanna G.M. Frints, Hans Scheffer, Christa M. De Geus, Pia A. M. de Koning Gans, Jiddeke M. van de Kamp, Jayne Y. Hehir-Kwa, Ronald J.E. Pennings, Mieke Wesdorp, Hannie Kremer, Marcel R. Nelen, Lies H. Hoefsloot
المساهمون: Human genetics, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Complex Trait Genetics, APH - Quality of Care, ACS - Atherosclerosis & ischemic syndromes, Clinical Genetics, MUMC+: DA KG Bedrijfsbureau (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Polikliniek (9), Human Genetics, Paediatric Genetics
المصدر: European Journal of Human Genetics, 25(3), 308-314. Nature Publishing Group
European Journal of Human Genetics, 25, 308-314
European Journal of Human Genetics, 25, 3, pp. 308-314
European Journal of Human Genetics, 25(3), 308. Nature Publishing Group
European journal of human genetics, 25(3), 308-314. Nature Publishing Group
Seco, C Z, Wesdorp, M, Feenstra, I, Pfundt, R, Hehir-Kwa, J Y, Lelieveld, S H, Castelein, S, Gilissen, C, De Wijs, I J, Admiraal, R J C, Pennings, R J E, Kunst, H P M, Van De Kamp, J M, Tamminga, S, Houweling, A C, Plomp, A S, Maas, S M, De Koning Gans, P A M, Kant, S G, De Geus, C M, Frints, S G M, Vanhoutte, E K, Van Dooren, M F, Van Den Boogaard, M J H, Scheffer, H, Nelen, M, Kremer, H, Hoefsloot, L, Schraders, M & Yntema, H G 2017, ' The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in the Netherlands ', European Journal of Human Genetics, vol. 25, no. 3, pp. 308-314 . https://doi.org/10.1038/ejhg.2016.182مصطلحات موضوعية: 0301 basic medicine, MYO15A, 030105 genetics & heredity, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Connexins, Exome, Copy-number variation, MUTATION, Genetics (clinical), Exome sequencing, Netherlands, Genetics, COPY NUMBER VARIANTS, Extracellular Matrix Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], EAR, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Connexin 26, Intercellular Signaling Peptides and Proteins, Neurodevelopmental disorders Radboud Institute for Molecular Life Sciences [Radboudumc 7], DEAFNESS, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], STRC, medicine.medical_specialty, DNA Copy Number Variations, OTOGELIN, Genetic counseling, Biology, Myosins, GPI-Linked Proteins, FREQUENCY, Article, 03 medical and health sciences, Molecular genetics, Journal Article, medicine, Humans, Genetic Testing, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Hearing Loss, SPECTRUM, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Myosin Heavy Chains, IDENTIFICATION, Genetic heterogeneity, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Membrane Proteins, Sequence Analysis, DNA, 030104 developmental biology
وصف الملف: application/pdf; image/pdf
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المؤلفون: Carel B. Hoyng, Caroline C W Klaver, Susanne Roosing, Lies H. Hoefsloot, Anneke I. den Hollander, L. Ingeborgh van den Born, Nathalie M. Bax, Frans P.M. Cremers, B. Jeroen Klevering, Marijke N. Zonneveld-Vrieling, Merve Mutlu, Ilse J. de Wijs, Riccardo Sangermano, Carla S. Westeneng-van Haaften, Edwin M. Stone, Terry A. Braun, Alberta A H J Thiadens, Milan Phan
المساهمون: Ophthalmology
المصدر: Human Mutation, 36(1), 43-47. Wiley-Liss Inc.
Human Mutation, 36, 43-7
Human Mutation, 36, 1, pp. 43-7مصطلحات موضوعية: Male, Proband, Sequence analysis, ABCA4, Sensory disorders Radboud Institute for Health Sciences [Radboudumc 12], Biology, Genetic Heterogeneity, Macular Degeneration, Exon, Genetics, medicine, Humans, Stargardt Disease, Genetic Predisposition to Disease, splice, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Genetic Association Studies, Genetics (clinical), Sequence Deletion, Genetic heterogeneity, Intron, High-Throughput Nucleotide Sequencing, Exons, Sequence Analysis, DNA, medicine.disease, Molecular biology, Introns, Pedigree, Stargardt disease, biology.protein, ATP-Binding Cassette Transporters, Female, Retinitis Pigmentosa
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المؤلفون: Yurii S. Aulchenko, Kim P. van der Donk, C.W.R.J. Cremers, Martijn H. Kemperman, Patrick L.M. Huygen, Ilse J. de Wijs, H. Kremer, Ronald J.C. Admiraal, L. H. Hoefsloot, Regie Lyn P. Santos
المصدر: International Journal of Pediatric Otorhinolaryngology, 69, 2, pp. 165-74
International Journal of Pediatric Otorhinolaryngology, 69, 165-74مصطلحات موضوعية: Male, Oncology, Genetics and epigenetic pathways of disease [NCMLS 6], Compound heterozygosity, medicine.disease_cause, Severity of Illness Index, Connexins, Genotype, Perception and Action [DCN 1], Neurosensory disorders [UMCN 3.3], Missense mutation, Child, Netherlands, Genetics, Mutation, medicine.diagnostic_test, biology, General Medicine, Audiogram, Connexin 26, Child, Preschool, Female, medicine.symptom, Functional Neurogenomics [DCN 2], GJB6, Adult, Heterozygote, medicine.medical_specialty, Adolescent, Hearing loss, Molecular Sequence Data, Genomic disorders and inherited multi-system disorders [IGMD 3], Audiometry, Internal medicine, otorhinolaryngologic diseases, medicine, Humans, Amino Acid Sequence, Hearing Loss, Retrospective Studies, Polymorphism, Genetic, business.industry, Genetic defects of metabolism [UMCN 5.1], Otorhinolaryngology, Pediatrics, Perinatology and Child Health, biology.protein, business, Follow-Up Studies
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8ab72462bbb159e138fffe2d26b0e1e
https://doi.org/10.1016/j .ijporl.2004.08.015 -
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المؤلفون: Erik A. Sistermans, Ilse J. de Wijs, Barto J. Otten, Nike M. M. L. Stikkelbroeck, Ad R. M. M. Hermus, Lies H. Hoefsloot
المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Journal of Clinical Endocrinology and Metabolism, 88, 8, pp. 3852-9
Journal of Clinical Endocrinology and Metabolism, 88, 3852-9
Stikkelbroeck, N M M L, Hoefsloot, L H, De Wijs, I J, Otten, B J, Hermus, A R M M & Sistermans, E A 2003, ' CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in the Netherlands : Six novel mutations and a specific cluster of four mutations ', Journal of Clinical Endocrinology and Metabolism, vol. 88, no. 8, pp. 3852-3859 . https://doi.org/10.1210/jc.2002-021681
Journal of Clinical Endocrinology and Metabolism, 88(8), 3852-3859. The Endocrine Societyمصطلحات موضوعية: DNA, Complementary, Genotype, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, DNA Mutational Analysis, Biology, medicine.disease_cause, Compound heterozygosity, Biochemistry, Endocrinology, medicine, Humans, Congenital adrenal hyperplasia, Allele, Frameshift Mutation, Alleles, Netherlands, Genetics, Mutation, Adrenal Hyperplasia, Congenital, Endocrinology and reproduction [UMCN 5.2], Point mutation, Biochemistry (medical), medicine.disease, Null allele, Molecular biology, Pedigree, Phenotype, Genetic defects of metabolism [UMCN 5.1], Multigene Family, Mutation testing, Steroid 21-Hydroxylase
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المؤلفون: L. Ingeborgh van den Born, Bernd Wissinger, Marc A. van Driel, Eberhart Zrenner, Han G. Brunner, Lies H. Hoefsloot, Hans-Hilger Ropers, John R. Heckenlively, Ilse J. de Wijs, Frans P.M. Cremers, José A. J. M. van den Hurk, Dorien J. R. van de Pol
المصدر: Human Genetics, 113, 3, pp. 268-75
Human Genetics, 113, 268-75مصطلحات موضوعية: Male, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Biology, medicine.disease_cause, Choroideremia, Exon, Genetics, medicine, Intronic Mutation, Coding region, Humans, Protein Splicing, Neurosensory disorders [UMCN 3.3], Insertion, Amino Acid Sequence, Genetics (clinical), Adaptor Proteins, Signal Transducing, Mutation, Alkyl and Aryl Transferases, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, Exons, medicine.disease, Molecular biology, Introns, Mutagenesis, Insertional, Genetic defects of metabolism [UMCN 5.1], Codon, Nonsense, rab GTP-Binding Proteins, Lipid modification, Cellular energy metabolism [UMCN 5.3], Gene Deletion
وصف الملف: application/pdf
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المؤلفون: Ramon A C, van Huet, Laurence H M, Pierrache, Magda A, Meester-Smoor, Caroline C W, Klaver, L Ingeborgh, van den Born, Carel B, Hoyng, Ilse J, de Wijs, Rob W J, Collin, Lies H, Hoefsloot, B Jeroen, Klevering
المصدر: Molecular Vision
مصطلحات موضوعية: Cohort Studies, Male, DNA Mutational Analysis, High-Throughput Nucleotide Sequencing, Humans, Female, Genes, Recessive, Genetic Testing, eye diseases, Retinitis Pigmentosa, Oligonucleotide Array Sequence Analysis, Retrospective Studies, Research Article
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المؤلفون: Ilse J. de Wijs, Jorieke E. H. Bergman, Conny M. A. van Ravenswaaij-Arts, Marjolijn C.J. Jongmans, Ronald J.C. Admiraal, Lies H. Hoefsloot
المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD)
المصدر: European journal of medical genetics, 51(5), 417-425. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 51, 417-25
European Journal of Medical Genetics, 51, 5, pp. 417-25مصطلحات موضوعية: Adult, Male, ANOMALIES, Adolescent, Whole exon duplication, PHENOTYPIC SPECTRUM, Biology, medicine.disease_cause, PATIENT, Genomic disorders and inherited multi-system disorders [IGMD 3], CHD7, Exon, CHARGE syndrome, Gene duplication, Perception and Action [DCN 1], Genetics, medicine, Neurosensory disorders [UMCN 3.3], Humans, CRITERIA, Abnormalities, Multiple, Multiplex ligation-dependent probe amplification, Child, Gene, Genetics (clinical), Mutation, IDENTIFICATION, MUTATIONS, DELETION, DNA Helicases, Infant, Newborn, Infant, Charge (physics), General Medicine, Exons, Syndrome, ASSOCIATION, medicine.disease, MLPA, DNA-Binding Proteins, Genetic defects of metabolism [UMCN 5.1], Chd7 gene, Whole exon deletion, Child, Preschool, Female, Gene Deletion
وصف الملف: application/pdf
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المؤلفون: Paulus T. V. M. de Jong, Iwan C. Meij, Erik A. Sistermans, Frans P.M. Cremers, Haig H. Kazazian, Astrid S. Plomp, Ilse J. de Wijs, Lies H. Hoefsloot, Konstantinos Nikopoulos, Maria del Carmen Seleme, Arijit Mukhopadhyay, José A. J. M. van den Hurk, Hiroki Kano
المساهمون: Human Genetics, Paediatric Genetics, ANS - Amsterdam Neuroscience, Ophthalmology, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Human molecular genetics, 16(13), 1587-1592. Oxford University Press
Human Molecular Genetics, 16(13), 1587-1592. Oxford University Press
Human Molecular Genetics, 16, 1587-92
van den Hurk, J A J M, Meij, I C, del Carmen Seleme, M, Kano, H, Nikopoulos, K, Hoefsloot, L H, Sistermans, E A, de Wijs, I J, Mukhopadhyay, A, Plomp, A S, de Jong, P T V M, Kazazian, H H & Cremers, F P M 2007, ' L1 retrotransposition can occur early in human embryonic development ', Human Molecular Genetics, vol. 16, no. 13, pp. 1587-1592 . https://doi.org/10.1093/hmg/ddm108
Human Molecular Genetics, 16, 13, pp. 1587-92مصطلحات موضوعية: Male, Heterozygote, Genetics and epigenetic pathways of disease [NCMLS 6], Retroelements, Retrotransposon, Biology, Genome, Choroideremia, Genomic disorders and inherited multi-system disorders [IGMD 3], Genetics, medicine, Humans, Molecular Biology, Gene, Genetics (clinical), X-linked recessive inheritance, Embryonic Stem Cells, Germ-Line Mutation, Chromosomes, Human, X, Models, Genetic, Mosaicism, Genetic disorder, Chromosome, Gene Expression Regulation, Developmental, General Medicine, medicine.disease, Pedigree, Long Interspersed Nucleotide Elements, Genetic defects of metabolism [UMCN 5.1], Human genome, Chromosomes, Human, Pair 6, Female
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8423a095d4e97af4c19391564d4480
https://pure.amc.nl/en/publications/l1-retrotransposition-can-occur-early-in-human-embryonic-development(7f9d39c1-91fe-422b-9d80-acf194105a3f).html -
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المؤلفون: Ilse J. de Wijs, Hsien-Hsiung Lee, Erik A. Sistermans
المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Molecular Genetics and Metabolism, 70, 4, pp. 322-324
Molecular Genetics and Metabolism, 70, 322-324
Molecular Genetics and Metabolism, 70(4), 322-324. Academic Press Inc.
Lee, H H, De Wijs, I J & Sistermans, E A 2000, ' Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency ', Molecular Genetics and Metabolism, vol. 70, no. 4, pp. 322-324 . https://doi.org/10.1006/mgme.2000.3023مصطلحات موضوعية: TaqI, Endocrinology, Diabetes and Metabolism, Pseudogene, Clinical description and delineation of genetic syndromes, Biology, Polymerase Chain Reaction, Biochemistry, law.invention, chemistry.chemical_compound, Endocrinology, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, law, Genetics, medicine, Humans, False Positive Reactions, Congenital adrenal hyperplasia, Deoxyribonucleases, Type II Site-Specific, Molecular Biology, Gene, Klinische beschrijving en moleculaire definiëring van genetische syndromen, Polymerase chain reaction, DNA Primers, Adrenal Hyperplasia, Congenital, Base Sequence, medicine.disease, Molecular biology, Restriction enzyme, chemistry, Mutation, Microsatellite, Steroid 21-Hydroxylase
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11Academic Journal
المؤلفون: Iwan C. Meij, Maria Del Carmen Seleme, Lies H. Hoefsloot, Erik A, Ilse J. De Wijs, Astrid S. Plomp, Haig H. Kazazian, Frans P. M, Cremers Phd
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.491.7554; http://hmg.oxfordjournals.org/content/early/2007/05/04/hmg.ddm108.full.pdf
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المؤلفون: Paul F. J. Koppens, Hubert J.M. Smeets, Theo Hoogenboezem, Ilse J De Wijs, Sabine M.P.F. de Muinck Keizer-Schrama, Stenvert L. S. Drop, H J Degenhart
المصدر: Pediatric Research. 36:12A-12A
مصطلحات موضوعية: Genetics, Mutation, Steroid 21-Hydroxylase, Pseudogene, C4A, Chromosome, Biology, medicine.disease, medicine.disease_cause, Molecular biology, Pediatrics, Perinatology and Child Health, medicine, Homologous chromosome, Congenital adrenal hyperplasia, Gene