المؤلفون: K. Floor, Simone Salemink, K.J.A.F. van Kaam, J.M. van de Kamp, Ingrid P.C. Krapels, Marjan M. Weiss, T. van Dijk, E. Wijnands-van den Berg, D. van de Beek, Constance T. R. M. Stumpel, Marlies Kempers, Bart Loeys, Arjan C. Houweling, J. P. van Tintelen, A. J. M. Hoogeboom, K.H.N. de Boer, Hester Y. Kroes, Eline Overwater, V. J. M. Verhoeven, Alessandra Maugeri, J. M. Cobben, Yvonne Hilhorst-Hofstee

المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Cardiology, Amsterdam Neuroscience - Complex Trait Genetics, AGEM - Inborn errors of metabolism, AGEM - Endocrinology, metabolism and nutrition, ACS - Atherosclerosis & ischemic syndromes, ACS - Heart failure & arrhythmias, Clinical Genetics, Ophthalmology, MUMC+: DA KG Polikliniek (9), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, ARD - Amsterdam Reproduction and Development, Human Genetics, Paediatric Genetics, ACS - Pulmonary hypertension & thrombosis

المصدر: European Journal of Medical Genetics, 60, 9, pp. 465-473
European Journal of Medical Genetics, 60(9), 465. Elsevier Masson SAS
European Journal of Medical Genetics, 60, 465-473
Overwater, E, Floor, K, van Beek, D, de Boer, K, van Dijk, T, Hilhorst-Hofstee, Y, Hoogeboom, A J M, van Kaam, K J, van de Kamp, J M, Kempers, M, Krapels, I P C, Kroes, H Y, Loeys, B, Salemink, S, Stumpel, C T R M, Verhoeven, V J M, Wijnands-van den Berg, E, Cobben, J M, van Tintelen, J P, Weiss, M M, Houweling, A C & Maugeri, A 2017, ' NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield ', European Journal of Medical Genetics, vol. 60, no. 9, pp. 465-473 . https://doi.org/10.1016/j.ejmg.2017.06.005
European Journal of Medical Genetics, 60(9), 465-473. Elsevier Masson SAS
European Journal of Medical Genetics, 60(9), 465-473. Elsevier Masson
European Journal of Medical Genetics, 60(9), 465-473
European Journal of Medical Genetics, 60(9), 465-473. Elsevier
European journal of medical genetics, 60(9), 465-473. Elsevier Masson SAS

مصطلحات موضوعية: 0301 basic medicine, Marfan syndrome, Male, Gene panel, FOUNDER MUTATION, PUPILLAE, Bioinformatics, Compound heterozygosity, CRANIOSYNOSTOSIS, 0302 clinical medicine, ADAMTS Proteins, Genetics(clinical), Ectopia lentis, Child, Genetics (clinical), medicine.diagnostic_test, MICROFIBRILS, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, MARFAN-SYNDROME, FAMILY, Child, Preschool, Mutation (genetic algorithm), Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, Adolescent, PROTEINS, Sensitivity and Specificity, DNA sequencing, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Next generation sequencing, medicine, Genetics, Journal Article, Humans, False Positive Reactions, Genetic Testing, FBN1, Gene, Genetic testing, Aged, business.industry, Infant, Sequence Analysis, DNA, FIBRILLIN-1, ADAMTSL4, medicine.disease, GENE, 030104 developmental biology, Panel analysis, 030221 ophthalmology & optometry, business

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7d68ced92c4f3368fd0e2d7897c0e07
https://pure.eur.nl/en/publications/7d236abb-c8d8-4327-81f4-aa3e0e1265ba

المؤلفون: A. Fisher, Antoni Borrell, Monique C. Haak, Anthony Odibo, J. M. Cobben, Fenna A. R. Jansen, Yair J. Blumenfeld

المصدر: Ultrasound in Obstetrics and Gynecology, 45(1), 27-35

مصطلحات موضوعية: Heart Defects, Congenital, Pathology, medicine.medical_specialty, Heart disease, DNA Copy Number Variations, Genetic counseling, Aneuploidy, Prenatal diagnosis, Genetic Counseling, Pregnancy, Internal medicine, Prenatal Diagnosis, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Copy-number variation, Comparative Genomic Hybridization, Radiological and Ultrasound Technology, business.industry, Obstetrics and Gynecology, General Medicine, medicine.disease, Microarray Analysis, congenital heart defects, Systematic review, Reproductive Medicine, Meta-analysis, array comparative genomic hybridization, Karyotyping, Female, business, Comparative genomic hybridization, copy number variants

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::939c04fb7363b75b4c7914ccbda36843
https://doi.org/10.1002/uog.14695

المؤلفون: P. Caballero, J. Alonso, S. Cortes, M. Caballero Campo, M. Gago, R. Nunez-Calonge, E. Ricciarelli, J. L. Gomez Palomares, I. Bruna Catalan, E. R. Hernandez, V. Grzegorczyk-Martin, J. Belaisch-Allart, J. M. Mayenga, O. Kulski, M. Plachot, H. C. Darby, M. Florensa Bargallo, N. Perals Vazquez, M. Esbert Algam, M. Belles Fernandez, A. Ballesteros Boluda, G. Calderon de Oya, M. Alegre de Miquel, M. Choudhary, A. Ramineni, J. Stewart, Y. Cabello, S. Fernandez-Shaw, A. Mercader, R. Herrer, G. Arroyo, F. Del Rio, M. Carrera, M. Fernandez Sanchez, T. Sumimoto, N. Kataoka, H. Ogata, S. Mizuta, Y. Tokura, S. Yamada, S. Ogata, Y. Mizusawa, Y. Matsumoto, E. Okamoto, S. Kokeguchi, M. Shiotani, Y. Nagai, J. Otsuki, K. Maeda, Y. Momma, K. Takahashi, M. Chuko, A. Miwa, A. Nagai, J. Seggers, M. L. Haadsma, S. La Bastide-van Gemert, M. J. Heineman, J. H. Kok, K. J. Middelburg, T. J. Roseboom, P. Schendelaar, E. R. Van den Heuvel, M. Hadders-Algra, M. Jongbloed-Pereboom, S. La Bastide-Van Gemert, K. R. Heineman, A. F. Bos, L. A. Kondapalli, A. Shaunik, T. A. Molinaro, S. J. Ratcliffe, K. T. Barnhart, M. Haadsma, P. Keating, J. C. Van Hoften, H. E. Veenstra-Knol, J. M. Cobben, C. Pirkevi, Z. Atayurt, H. Yelke, S. Kahraman, S. Desmyttere, W. Verpoest, P. Haentjens, G. Verheyen, I. Liebaers, M. Bonduelle, C. Winter, F. Van Acker, F. De Schrijver, J. Nekkebroeck, A. Pariente-Khayat, A. de Laubier, D. Fehily, G. Lemardeley, F. Merlet, H. Creusvaux, Y. Nakajo, E. Sakamoto, M. Doshida, M. Toya, I. Nasu, K. Kyono, R. Schats, C. G. Vergouw, E. H. Kostelijk, E. Doejaaren, P. G. A. Hompes, C. B. Lambalk, Y. Nakamura, T. Takisawa, Y. Shibuya, Y. Sato, K. Sato, A. Berard, S. Chaabane, O. Sheehy, L. Blais, W. Fraser, F. Bissonnette, P. Monnier, S. L. Tan, J. Trasler, A. Subramaniam, R. Chiappetta, A. Mania, G. Trew, S. A. Lavery, O. van den Akker, S. Purewal, C. Bunnell, H. Lashen, P. Terriou, C. Giorgetti, G. Porcu-Buisson, V. Roger, J. M. Chinchole, V. Hamon, J. Allemand-Sourieu, L. Cravello, J. Moreau, V. Chabert-Orsini, F. Belva, M. Roelants, J. De Schepper, P. Devroey, R. C. Painter, L. Machin, K. Fearon, K. Morishima, A. Fujimoto, H. Oishi, T. Hirata, M. Harada, A. Hasegawa, Y. Osuga, T. Yano, S. Kozuma, Y. Taketani

المصدر: Human Reproduction. 27:ii273-ii285

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, In vitro fertilisation, business.industry, Offspring, Repertoire, medicine.medical_treatment, Rehabilitation, Obstetrics and Gynecology, Controlled ovarian hyperstimulation, Affect (psychology), Fluency, Variation (linguistics), Endocrinology, Reproductive Medicine, Internal medicine, medicine, business, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c8d78c2650707b95946c514ca57d509c
https://doi.org/10.1093/humrep/27.s2.86

المؤلفون: Alessandra Maugeri, J. M. Cobben, Peter G.J. Nikkels, Gerard Pals, Ariana Kariminejad, R.R. van Rijn, F.S. Van Dijk

المصدر: Molecular Syndromology. 2:1-20

مصطلحات موضوعية: Collagen type, medicine.medical_specialty, Pediatrics, Pathology, business.industry, Review Article, medicine.disease, Collagen type I, Osteogenesis imperfecta, Epidemiology, Prenatal fractures, Genetics, medicine, Bisphosphonate therapy, business, Fractures, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3c72ccb0e53fce7e3f766f2815dd567
https://doi.org/10.1159/000332228

المؤلفون: Barbara J. M. Mulder, Marielle G. J. Duffels, J. C. Vis, S. A. Huisman, J. M. Cobben, M. M. Winter, Michel E. Weijerman

المساهمون: Cardiology, General Internal Medicine, ANS - Amsterdam Neuroscience, Other Research, Human Genetics, Paediatric Genetics, Other departments, ACS - Amsterdam Cardiovascular Sciences, Pediatric surgery, ICaR - Ischemia and repair

المصدر: Journal of intellectual disability research, 53(Part 5), 419-425. Wiley-Blackwell
Journal of Intellectual Disability Research, 53, 419-425. Wiley-Blackwell
Vis, J C, Duffels, M G J, Winter, M M, Weijerman, M E, Cobben, J M, Huisman, S A & Mulder, B J M 2009, ' Down syndrome: a cardiovascular perspective ', Journal of Intellectual Disability Research, vol. 53, pp. 419-425 . https://doi.org/10.1111/j.1365-2788.2009.01158.x

مصطلحات موضوعية: Heart Defects, Congenital, medicine.medical_specialty, Pathology, Down syndrome, Chromosomes, Human, Pair 22, Coronary Artery Disease, Heart Septal Defects, Atrial, Heart disorder, Life Expectancy, Arts and Humanities (miscellaneous), Epidemiology, Prevalence, medicine, Humans, In patient, Intensive care medicine, Ductus Arteriosus, Patent, business.industry, Vascular disease, Rehabilitation, Respiratory disease, medicine.disease, Pulmonary hypertension, Psychiatry and Mental health, Neurology, Neurology (clinical), Down Syndrome, business, Trisomy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19a6e6a09f5b0623c5f7fc219af14286
https://doi.org/10.1111/j.1365-2788.2009.01158.x

المؤلفون: J. M. Cobben, J. M. J. Systermans, Ute Moog, C. E. M. De Die-Smulders

المصدر: Clinical Genetics, 52(4), 219-225. Wiley

مصطلحات موضوعية: ''disorganization-like syndrome'', ANOMALIES, Male, encephalocraniocutaneous lipomatosis, Microphthalmia, MOUSE MUTANT DISORGANIZATION, Dandy–Walker syndrome, Orbital Diseases, Twins, Dizygotic, Microphthalmos, Eye Abnormalities, MUTATION, Genetics (clinical), Coloboma, Psychomotor retardation, Cysts, Brain, neurocristopathy, DEFECTS, Syndrome, HUMAN HOMOLOG, Oculocerebrocutaneous syndrome, Neural Crest, Female, medicine.symptom, Delleman-Oorthuys syndrome, medicine.medical_specialty, ORBITAL CYST, Fertilization in Vitro, oculocerebrocutaneous syndrome, FOCAL DERMAL MALFORMATIONS, CUTANEOUS SYNDROME, Intellectual Disability, Internal medicine, Diseases in Twins, Genetics, medicine, Humans, Abnormalities, Multiple, Neurocristopathy, Epilepsy, Anophthalmia, business.industry, Skull, Infant, Newborn, Anophthalmos, Eyelids, medicine.disease, Dermatology, Endocrinology, DELLEMAN SYNDROME, Encephalocraniocutaneous Lipomatosis, Skin Abnormalities, Dandy-Walker Syndrome, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed0124620f95ce5646b44e3ca0b28d27
https://doi.org/10.1111/j.1399-0004.1997.tb02551.x

المؤلفون: Annick Vogels, J. M. Cobben, P H Spauwen, D Soekarman, Jean-Pierre Fryns

المصدر: Clinical Genetics. 47:169-174

مصطلحات موضوعية: Male, medicine.medical_specialty, Foot Deformities, Congenital, Knee Joint, Cleft Lip, Variable Expression, Genetics, medicine, Humans, Abnormalities, Multiple, Family, Van der Woude syndrome, Genitalia, Syndactyly, Genetics (clinical), business.industry, Infant, Newborn, Infant, Syndrome, Anatomy, medicine.disease, Dermatology, Infant newborn, Third generation, Cleft Palate, Popliteal pterygium syndrome, Female, Differential diagnosis, Congenital disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b12bfa84518f274f6d9a7e245e958010
https://doi.org/10.1111/j.1399-0004.1995.tb03954.x

المؤلفون: M. C. Haak, J.M.G. van Vugt, J. M. Cobben

المصدر: Fetal Diagnosis and Therapy. 16:146-149

مصطلحات موضوعية: Adult, Embryology, medicine.medical_specialty, Foot Deformities, Congenital, Ultrasonographic examination, Ultrasonography, Prenatal, Pregnancy, medicine, Humans, Radiology, Nuclear Medicine and imaging, Hand deformity, business.industry, Obstetrics and Gynecology, General Medicine, medicine.disease, Surgery, Pregnancy Trimester, First, First trimester, Transvaginal ultrasound, medicine.anatomical_structure, Vagina, Pediatrics, Perinatology and Child Health, Upper limb, Female, Congenital disease, Ultrasonography, business, Hand Deformities, Congenital, Foot (unit)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::076721a1ac98e7121d3ad9390553cb7b
https://doi.org/10.1159/000053899

المؤلفون: Rob G.J. Mensink, G van der Steege, Chcm Buys, J. M. Cobben, Hans Scheffer, Rein P. Stulp

المصدر: European Journal of Human Genetics, 8(2), 79-86. Nature Publishing Group

مصطلحات موضوعية: survival motor neuron, Male, Heterozygote, DNA Mutational Analysis, Loss of Heterozygosity, Nerve Tissue Proteins, DE-NOVO, MOTOR-NEURON GENE, MOLECULAR ANALYSIS, QUANTITATIVE PCR, Biology, PHENOTYPE, DIAGNOSIS, Muscular Atrophy, Spinal, Exon, Plasmid, MISSENSE MUTATION, Genetics, medicine, Humans, Missense mutation, SMA, carrier testing, Allele, Cyclic AMP Response Element-Binding Protein, Genetics (clinical), spinal muscular atrophy, Sequence Deletion, Family Health, Genetic Carrier Screening, GERMANY WEST-THURINGEN, RNA-Binding Proteins, SMN Complex Proteins, DNA, Exons, Spinal muscular atrophy, medicine.disease, Molecular biology, SMN, Pedigree, Restriction site, COPY NUMBER, Real-time polymerase chain reaction, WERDNIG-HOFFMANN DISEASE, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eac2f649fe76acc01bd5ed6dff5eaae0
https://doi.org/10.1038/sj.ejhg.5200404

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