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1دورية أكاديمية
المؤلفون: Carline E. Tacke, Suzanne W.J. Terheggen-Lagro, Annemieke M. Boot, Astrid S. Plomp, Abeltje M. Polstra, Rick R. van Rijn, Peter A.A. Struijs, Henk van den Berg, Christiaan F. Mooij
المصدر: Bone Reports, Vol 14, Iss , Pp 101067- (2021)
مصطلحات موضوعية: Parathyroid hormone-like hormone, PTHLH, Chondrodysplasia, Enchondroma, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
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المؤلفون: Irma van de Beek, Iris E. Glykofridis, Michael W. T. Tanck, Monique N. H. Luijten, Theo M. Starink, Jesper A. Balk, Paul C. Johannesma, Eric Hennekam, Maurice J. B. van den Hoff, Quinn D. Gunst, Johan J. P. Gille, Abeltje M. Polstra, Pieter E. Postmus, Maurice A. M. van Steensel, Alex V. Postma, Rob M. F. Wolthuis, Fred H. Menko, Arjan C. Houweling, Quinten Waisfisz
المساهمون: Human Genetics, Epidemiology and Data Science, Medical Biology, ACS - Heart failure & arrhythmias, CCA - Cancer biology and immunology, Amsterdam Reproduction & Development (AR&D), Human genetics, Cancer Center Amsterdam, APH - Methodology, Dermatology, CCA - Cancer Treatment and quality of life, ACS - Atherosclerosis & ischemic syndromes
المصدر: van de Beek, I, Glykofridis, I E, Tanck, M W T, Luijten, M N H, Starink, T M, Balk, J A, Johannesma, P C, Hennekam, E, van den Hoff, M J B, Gunst, Q D, Gille, J J P, Polstra, A M, Postmus, P E, van Steensel, M A M, Postma, A V, Wolthuis, R M F, Menko, F H, Houweling, A C & Waisfisz, Q 2023, ' Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene ', Journal of human genetics, vol. 68, no. 4, pp. 273-279 . https://doi.org/10.1038/s10038-022-01113-1
Journal of human genetics. Nature Publishing Group
Journal of human genetics, 68(4), 273-279. Nature Publishing Groupمصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Abeltje M. Polstra, Nicole I. Wolf, Petra J. W. Pouwels, Marianna Bugiani, Felipe Wakasuqui, Charlotte Sophia Kaiser, Marjo S. van der Knaap, Murtadha L. Al-Saady, Eva Liebau, Roelineke J. Lunsing, Quinten Waisfisz, G. Christoph Korenke
المساهمون: Pediatric surgery, Human genetics, VU University medical center, Radiology and nuclear medicine, Amsterdam Neuroscience - Brain Imaging, Pathology, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Neuroscience - Complex Trait Genetics, Functional Genomics, Human Genetics, ARD - Amsterdam Reproduction and Development
المصدر: Al-Saady, M L, Kaiser, C S, Wakasuqui, F, Korenke, G C, Waisfisz, Q, Polstra, A, Pouwels, P J W, Bugiani, M, van der Knaap, M S, Lunsing, R J, Liebau, E & Wolf, N I 2021, ' Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy ', Neuropediatrics, vol. 52, no. 6, pp. 489-494 . https://doi.org/10.1055/s-0041-1724130
Al-Saady, M L, Kaiser, C S, Wakasuqui, F, Korenke, G C, Waisfisz, Q, Polstra, A, Pouwels, P J W, Bugiani, M, Van Der Knaap, M S, Lunsing, R J, Liebau, E & Wolf, N I 2021, ' Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy ', Neuropediatrics, vol. 52, no. 6, pp. 489-494 . https://doi.org/10.1055/s-0041-1724130
Neuropediatrics, 52(6), 489-494. Hippokrates Verlag GmbH
Neuropediatrics, 52(06), 489-494. GEORG THIEME VERLAG KGمصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, hypomyelination, Thalamus, Sural nerve, Ubiquitin-Activating Enzymes, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Atrophy, SDG 3 - Good Health and Well-being, UBA5, medicine, Humans, Global developmental delay, Exome sequencing, business.industry, Homozygote, UFM1, Peripheral Nervous System Diseases, General Medicine, medicine.disease, Hyperintensity, 030104 developmental biology, Peripheral neuropathy, Child, Preschool, Pediatrics, Perinatology and Child Health, neuropathy, Neurology (clinical), business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::005be0c3796ecc346b2c6552af5f77cf
https://doi.org/10.1055/s-0041-1724130 -
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المؤلفون: Zou Pan, Marielle E. van Gijn, Marjolein H. Willemsen, Mariet W. Elting, Susanne Koning, Daniel C. Koboldt, Rebecca Baud, Renzo Guerrini, Ghayda M. Mirzaa, Laurence E. Walsh, Kim L. McBride, Jenny Thies, Andrew E. Timms, Shaoping Huang, Gretchen E. Rosso, Joshua Scheck, Haley McConkey, Matthew A. Deardorff, Peter D. Turnpenny, Suzanne M. Leal, Sanjay M. Sisodiya, Lin Yang, Melissa Lees, Cacha M.P.C.D. Peeters-Scholte, Henry Houlden, Marielle Alders, J. Austin Hamm, Karla A. Peña-Guerra, Richard E. Person, Leena Lauronen, Hannah K. Robinson, Theresa Mihalic Mosher, Alexandra Garza-Flores, Victoria Harrison, Tuomo Määttä, Daniela Q.C.M. Barge-Schaapveld, James R. Lupski, Houda Zghal Elloumi, Francisco J. Guzmán-Vega, Tamison Jewett, Siddharth Banka, Barbara W. van Paassen, J. Lawrence Merritt, Angela Sun, Yana Lara-Taranchenko, Irma Järvelä, Ivan K. Chinn, Claudia A. L. Ruivenkamp, Nicholas M. Allen, Xiaodong Wang, Amy Crunk, Selina H. Banu, Maura R.Z. Ruzhnikov, Jeffery McGlothlin, Mashaya Zaman, Adam Jackson, Stefan T. Arold, Bert B.A. de Vries, Jing Peng, Lauren Schenck, Isabelle Schrauwen, Marjon van Slegtenhorst, Luis Alberto Pedroza, Bekim Sadikovic, Annalisa Vetro, Reshmi Ramakrishnan, Kristin G. Monaghan, Kelly J. Cardona-Londoño, Catherine Quindipan, Kristina Lanko, Rolph Pfundt, Caroline M. Kehoe, Martino Montomoli, Christian Gilissen, Hamid Galehdari, Yolande van Bever, Jennifer Keller-Ramey, Sadegheh Haghshenas, Neda Mazaheri, Stephanie Efthymiou, Reza Maroofian, Lewis Pang, Fleur Vansenne, Abeltje M. Polstra, Kara C. Klemp, Marjolein J.A. Weerts, Xi Lin, Julia Baptista, Tahsin Stefan Barakat, Anneke Kievit, Adi Reich, Stephen R. Braddock, Shehla Mohammed, Abbey M. Putnam, Jennifer Kerkhof, Matthew Pastore, Sally Ann Lynch
المساهمون: Graduate School, ANS - Neuroinfection & -inflammation, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output, Human genetics, VU University medical center, Amsterdam Reproduction & Development (AR&D), Clinical Genetics, Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics, HUS Medical Imaging Center, Clinicum, BioMag Laboratory, HUS Children and Adolescents, Kliinisen neurofysiologian yksikkö
المصدر: Genetics in Medicine
Genetics in medicine, 23(11), 2122-2137. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2122-2137. SPRINGERNATURE
Genetics in Medicine, 23(11), 2122-2137. Nature Publishing Group
Genomics England Research Consortium 2021, ' Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome ', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137 . https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine, 23(11), 2122-2137. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2122-2137. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 2122-2137
Genetics in Medicine, 23, 11, pp. 2122-2137
Genomics England Research Consortium 2021, ' Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01246-2مصطلحات موضوعية: Male, INTELLECTUAL DISABILITY, GENES, Language delay, VARIANTS, Biology, Bioinformatics, 3124 Neurology and psychiatry, Article, 12Q24.31, SETD1B, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neurodevelopmental disorder, Seizures, Intellectual disability, medicine, Humans, MICRODELETION, Global developmental delay, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 3112 Neurosciences, RECOGNITION, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Histone-Lysine N-Methyltransferase, medicine.disease, Penetrance, Human genetics, Phenotype, Neurodevelopmental Disorders, MOTIF, Autism, METHYLTRANSFERASE, 3111 Biomedicine, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Petronel Tuluc, Pauline E. Schneeberger, Monica L. Fernández-Quintero, Jonas Denecke, Simone Pelizzari, Kerstin Kutsche, Cathy A. Stevens, Marta Campiglio, Richard E. Person, Yousra El Ghaleb, Stefan Rentas, Klaus R. Liedl, Eric D. Marsh, Stefanie M Geisler, Laura K. Conlin, Abeltje M. Polstra, Bernhard E. Flucher, Johanna M. van Hagen
المساهمون: Human Genetics, ARD - Amsterdam Reproduction and Development, Human genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Brain, 144(7), 2092-2106. Oxford University Press
El Ghaleb, Y, Schneeberger, P E, Fernández-Quintero, M L, Geisler, S M, Pelizzari, S, Polstra, A M, Van Hagen, J M, Denecke, J, Campiglio, M, Liedl, K R, Stevens, C A, Person, R E, Rentas, S, Marsh, E D, Conlin, L K, Tuluc, P, Kutsche, K & Flucher, B E 2021, ' CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders ', Brain, vol. 144, no. 7, pp. 2092-2106 . https://doi.org/10.1093/brain/awab101, https://doi.org/10.1093/brain/awab101
Brainمصطلحات موضوعية: Adult, Male, Models, Molecular, 0301 basic medicine, CaV3.3, Protein Conformation, Models, Neurological, Mutation, Missense, Gating, medicine.disease_cause, Ca 3.3, low-voltage-gated calcium channels, Mice, 03 medical and health sciences, Epilepsy, Bursting, 0302 clinical medicine, Neurodevelopmental disorder, medicine, Animals, Humans, Computer Simulation, Genetic Predisposition to Disease, T-type calcium channels, intellectual disability (ID), Child, Neurons, Membrane potential, Mutation, Voltage-dependent calcium channel, AcademicSubjects/SCI01870, Chemistry, T-type calcium channel, Brain, Original Articles, Middle Aged, medicine.disease, Pedigree, Cell biology, 030104 developmental biology, Neurodevelopmental Disorders, Gain of Function Mutation, epilepsy, AcademicSubjects/MED00310, Female, Calcium Channels, Neurology (clinical), Ion Channel Gating, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bbb49e6049f2362f7ea16d06a8da98f
http://www.scopus.com/inward/record.url?scp=85102920109&partnerID=8YFLogxK -
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المؤلفون: Ange Line Bruel, Katherine A. Bosanko, Abeltje M. Polstra, Agne Liedén, Marcel M.A.M. Mannens, R. Pfundt, Frédérick A. Mallette, Britt-Marie Anderlid, Kieran B. Pechter, Louise Rafael-Croes, Madhura Bakshi, Saskia M. Maas, Dagmar Glatz, R. Frank Kooy, Natalie Lippa, Philippe M. Campeau, Yuri A. Zarate, Jade England, Mieke M. van Haelst, Megan Boothe, Kosuke Izumi, Manon van Ginkel, Vimla Aggarwal, Anna Lehman, Eline A. Verberne, Zornitza Stark, Christopher M. Richmond, Marije Meuwissen, Darryl C. De Vivo, Pankaj B. Agrawal, Shuxiang Goh, Jennifer M. Lemons, Bertrand Isidor, Ayeshah Chaudhry, Causes Study, Emma Bedoukian, Nathaniel H. Robin, David A. Koolen, Sylvia Stockler, David Rodriguez-Buritica
المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human Genetics, Graduate School, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, ACS - Pulmonary hypertension & thrombosis
المصدر: Genetics in medicine
Genetics in Medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 2, pp. 374-383
Verberne, E A, Goh, S, England, J, van Ginkel, M, Rafael-Croes, L, Maas, S, Polstra, A, Zarate, Y A, Bosanko, K A, Pechter, K B, Bedoukian, E, Izumi, K, Chaudhry, A, Robin, N H, Boothe, M, Lippa, N C, Aggarwal, V, De Vivo, D C, Lehman, A, Study, C, Stockler, S, Bruel, A L, Isidor, B, Lemons, J, Rodriguez-Buritica, D F, Richmond, C M, Stark, Z, Agrawal, P B, Kooy, R F, Meuwissen, M E C, Koolen, D A, Pfundt, R, Lieden, A, Anderlid, B M, Glatz, D, Mannens, M M A M, Bakshi, M, Mallette, F A, van Haelst, M M & Campeau, P M 2021, ' JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome ', Genetics in Medicine, vol. 23, no. 2, pp. 374-383 . https://doi.org/10.1038/s41436-020-00992-z
Genetics in medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 374-383مصطلحات موضوعية: 0301 basic medicine, Heterozygote, Haploinsufficiency, 030105 genetics & heredity, Biology, 03 medical and health sciences, Exome Sequencing, Intellectual disability, medicine, Humans, Copy-number variation, Gene, Genetics (clinical), Exome sequencing, Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], neurodevelopment, Microarray analysis techniques, Polycomb Repressive Complex 2, Chromosome, Syndrome, medicine.disease, developmental delay, Phenotype, 030104 developmental biology, Neurodevelopmental Disorders, intellectual disability, Histone methyltransferase, Human medicine, JARID2
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المؤلفون: Irma, van de Beek, Iris E, Glykofridis, Michael W T, Tanck, Monique N H, Luijten, Theo M, Starink, Jesper A, Balk, Paul C, Johannesma, Eric, Hennekam, Maurice J B, van den Hoff, Quinn D, Gunst, Johan J P, Gille, Abeltje M, Polstra, Pieter E, Postmus, Maurice A M, van Steensel, Alex V, Postma, Rob M F, Wolthuis, Fred H, Menko, Arjan C, Houweling, Quinten, Waisfisz
المصدر: Journal of human genetics.
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المؤلفون: Allan Bayat, Tina Duelund Hjortshøj, Petra J. G. Zwijnenburg, Chantal J.M. Broers, Michael Bayat, Abeltje M. Polstra
المساهمون: Human Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Bayat, A, Bayat, M, Broers, C, Polstra, A M, Zwijnenburg, P J G & Hjortshøj, T D 2021, ' 5q11.2 deletion syndrome revisited : Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome ', American Journal of Medical Genetics, Part A, vol. 185, no. 12, pp. 3844-3850 . https://doi.org/10.1002/ajmg.a.62428
Bayat, A, Bayat, M, Broers, C, Polstra, A M, Zwijnenburg, P J G & Hjortshøj, T D 2021, ' 5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome ', American Journal of Medical Genetics Part A, vol. 185, no. 12, pp. 3844-3850 . https://doi.org/10.1002/ajmg.a.62428
Bayat, A, Bayat, M, Broers, C, Polstra, A M, Zwijnenburg, P J G & Hjortshøj, T D 2021, ' 5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome ', American Journal of Medical Genetics. Part A, vol. 185, no. 12, pp. 3844-3850 . https://doi.org/10.1002/ajmg.a.62428
American journal of medical genetics. Part A, 185(12), 3844-3850. Wiley-Liss Inc.مصطلحات موضوعية: Genetics, shortest region of overlap, Candidate gene, Heart malformation, Biology, medicine.disease, Phenotype, Penetrance, developmental delay, CHARGE syndrome, Intellectual disability, medicine, 5q11.2 microdeletion syndrome, DHX29, Gene, immunodeficiency, Genetics (clinical), Immunodeficiency
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المؤلفون: Annemieke M. Boot, Henk van den Berg, Peter A A Struijs, Carline E. Tacke, Rick R. van Rijn, Abeltje M. Polstra, Christiaan F. Mooij, Astrid S Plomp, Suzanne W.J. Terheggen-Lagro
المساهمون: Faculteit Medische Wetenschappen/UMCG, General Paediatrics, Paediatric Pulmonology, Human Genetics, Radiology and Nuclear Medicine, Other Research, AMS - Musculoskeletal Health, APH - Personalized Medicine, APH - Quality of Care, Orthopedic Surgery and Sports Medicine, Paediatric Oncology, Paediatric Endocrinology, Amsterdam Reproduction & Development (AR&D)
المصدر: Bone reports, 14:101067. De Tijdstroom/Elsevier
Bone reports, 14:101067. Elsevier Inc.
Bone Reports, Vol 14, Iss, Pp 101067-(2021)
Bone Reportsمصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, DEXA, dual-energy X-ray absorptiometry, Endocrinology, Diabetes and Metabolism, Enchondroma, Case Report, 030209 endocrinology & metabolism, AP, anteroposterior, Diseases of the musculoskeletal system, Chest deformity, 03 medical and health sciences, 0302 clinical medicine, Gene duplication, medicine, Orthopedics and Sports Medicine, Copy-number variation, business.industry, MUTATIONS, PA, posteroanterior, PTHLH, medicine.disease, CT, computed tomography, IHH, Indian hedgehog, RC925-935, PTHrP, parathyroid hormone related peptide, SDS, standard deviation score, Chondrodysplasia, Sputum, Parathyroid hormone-like hormone, 030101 anatomy & morphology, Limited mobility, Skeletal abnormalities, medicine.symptom, business, PTHLH, parathyroid hormone-like hormone, PTHLH gene
وصف الملف: application/pdf
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المؤلفون: Reshmi Ramakrishnan, Catherine Quindipan, Claudia A. L. Ruivenkamp, Nicholas M. Allen, Mashaya Zaman, Daniela Q.C.M. Barge-Schaapveld, Annalisa Vetro, Stephanie Efthymiou, James R. Lupski, Kara C. Klemp, Zou Pan, Adam Jackson, Marielle E. van Gijn, Joshua Scheck, Marielle Alders, Mariet W. Elting, Karla A. Peña-Guerra, Stephen R. Braddock, Rolph Pfundt, Ivan K. Chinn, Lin Yang, Lauren Schenck, Xiaodong Wang, Melissa Lees, Houda Zghal Elloumi, Shehla Mohammed, Sally Ann Lynch, Henry Houlden, Jennifer Keller-Ramey, Stefan T. Arold, Anneke Kievit, Jefferey McGlothlin, Marjon van Slegtenhorst, Marjolein H. Willemsen, Hannah K. Robinson, Bert B.A. de Vries, Irma Järvelä, Kelly J. Cardona-Londoño, Yolande van Bever, Abeltje M. Polstra, Neda Mazaheri, Barbara W. van Paassen, Maura R.Z. Ruzhnikov, Lewis Pang, Theresa Mihalic Mosher, J. Lawrence Merritt, Jing Peng, Sadegheh Haghshenas, Amy Crunk, Christian Gilissen, Fleur Vansenne, Cacha M.P.C.D. Peeters-Scholte, Richard E. Person, Hamid Galehdari, Leena Lauronen, Abbey M. Putnam, Jennifer Kerkhof, Matthew Pastore, Angela Sun, Caroline M. Kehoe, Alexandra Garza-Flores, Julia Baptista, Martino Montomoli, Selina H. Banu, Tahsin Stefan Barakat, Adi Reich, Luis Alberto Pedroza, Laurence E. Walsh, Renzo Guerrini, Ghayda M. Mirzaa, Peter D. Turnpenny, J. Austin Hamm, Xi Lin, Kristina Lanko, Reza Maroofian, Tuomo Määttä, Yana Lara-Taranchenko, Kim L. McBride, Jenny Thies, Andrew E. Timms, Shaoping Huang, Suzanne M. Leal, Daniel C. Koboldt, Rebecca Baud, Gretchen E. Rosso, Haley McConkey, Matthew A. Deardorff, Marjolein J.A. Weerts, Francisco J. Guzmán-Vega, Tamison Jewett, Siddharth Banka, Kristin G. Monaghan, Isabelle Schrauwen, Bekim Sadikovic, Sanjay M. Sisodiya, Victoria Harrison, Susanne Koning
مصطلحات موضوعية: Genetics, 0303 health sciences, Language delay, Mechanism (biology), Biology, medicine.disease, Penetrance, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, medicine, Autism, Global developmental delay, Epigenetics, 030217 neurology & neurosurgery, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::16c8e215afe52e022ad5ae98a3578594
https://doi.org/10.1101/2021.02.11.430742
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