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1دورية أكاديمية
المؤلفون: Emma M. J. Passchier, Quinty Bisseling, Guy Helman, Rosalina M. L. van Spaendonk, Cas Simons, René C. L. Olsthoorn, Hieke van der Veen, Truus E. M. Abbink, Marjo S. van der Knaap, Rogier Min
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: megalencephalic leukoencephalopathy with subcortical cysts, MLC1, GlialCAM, AQP4, GPRC5B, leukodystrophy, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Pieter F. de Groot, Arjan J. Kwakernaak, Ester M. M. van Leeuwen, Rosalina M. L. van Spaendonk, Evert-Jan Kooi, Daphne de Jong, Taco W. Kuijpers, Josée M. Zijlstra, Godelieve J. de Bree
المصدر: Frontiers in Medicine, Vol 10 (2023)
مصطلحات موضوعية: inborn error of immunity, Classical Hodgkin lymphoma (CHL), immune thrombocytopenia (ITP), hematopoietic stem cell transplantation, XMEN disease, Medicine (General), R5-920
وصف الملف: electronic resource
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المؤلفون: Murtadha Al-Saady, Richard J. Huntsman, Maaike Vreeburg, Annette Bley, Aurora Pujol, Maja Hempel, Ingeborg Krägeloh-Mann, Marjo S van der Knaap, Agustí Rodríguez-Palmero, Tatjana Bierhals, Inga Harting, Stephanie Karch, Ute Moog, Nicole I. Wolf, Geneviève Bernard, Petra J. W. Pouwels, Rosalina M. L. van Spaendonk
المساهمون: Functional Genomics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Pediatric surgery, Human genetics, Amsterdam Neuroscience - Brain Imaging, Radiology and nuclear medicine
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Neurogenetics, 21(2), 121-133. Springer Verlag
Neurogenetics, 21(2), 121-133. Springer, Cham
Harting, I, Al-Saady, M, Krägeloh-Mann, I, Bley, A, Hempel, M, Bierhals, T, Karch, S, Moog, U, Bernard, G, Huntsman, R, van Spaendonk, R M L, Vreeburg, M, Rodríguez-Palmero, A, Pujol, A, van der Knaap, M S, Pouwels, P J W & Wolf, N I 2020, ' POLR3A variants with striatal involvement and extrapyramidal movement disorder ', Neurogenetics, vol. 21, no. 2, pp. 121-133 . https://doi.org/10.1007/s10048-019-00602-4
Neurogenetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instnameمصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Superior cerebellar peduncle, Choreiform movement, Caudate nucleus, Lipoproteïnes, PHENOTYPE, 0302 clinical medicine, Basal ganglia, Malalties hereditàries, CATALYTIC SUBUNIT, 4H LEUKODYSTROPHY, Genetics (clinical), DIFFUSE HYPOMYELINATION, Dystonia, RECESSIVE MUTATIONS, Movement Disorders, Putamen, Brain, White Matter, medicine.anatomical_structure, Child, Preschool, Original Article, Female, CLINICAL SPECTRUM, Genetic disorders, Brainstem, Hypomyelination, MRI, Adult, medicine.medical_specialty, Lipoproteins, Striatum, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, Atrophy, SDG 3 - Good Health and Well-being, Genetics, medicine, Humans, business.industry, POLR3A, Leukodystrophy, Infant, RNA Polymerase III, medicine.disease, POLR3-RELATED LEUKODYSTROPHY, Neostriatum, 030104 developmental biology, Mutation, Inferior cerebellar peduncle, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Petter Strømme, Ferda Ozkinay, Heike Philippi, Pontus Wasling, Sebastien Moutton, Dagmar Timmann, Maria Vázquez-López, Pedro S Pinto, Annette Bley, A. Blaschek, Gabriel Á. Martos-Moreno, A. Micheil Innes, Alan Hill, Argirios Dinopoulos, Fiona Haslam McKenzie, Janice M. Fletcher, Barbara Plecko, Hanna Mierzewska, Matthis Synofzik, Cathy A. Stevens, Raphael Schiffmann, Janina Gburek-Augustat, Miriam Nickel, Constantin Polychronakos, Kether Guerrero, Susan M. Kirwin, Icíar Cimas, Inga Harting, Bwee Tien Poll-The, Vera Popovic, Coriene E. Catsman-Berrevoets, Simona Orcesi, Nicole I. Wolf, Laura Roos, Grace M. Hobson, Norberto Rodriguez Espinosa, Gert Wiegand, Bernard Brais, Julia Rankin, Marjo S. van der Knaap, Cyril Goizet, Michelle Demos, Sandra Pekic, Ingrid Tejera-Martin, Adeline Vanderver, Stefanie Perrier, Brent L. Fogel, Eriskay Liston, Meriel McEntagart, Ferdy K. Cayami, Bart P.C. van de Warrenburg, Anne Ronan, Paolo Gasparini, Bernard Corenblum, Joost Rotteveel, Mercedes Pineda Marfa, Roberta La Piana, Richard Webster, Eugen Boltshauser, Amytice Mirchi, Dietz Rating, Klara Brozova, Ingeborg Krägeloh-Mann, Marcelo Andrés Kauffman, Nesrin Senbil, Gerhard Kluger, Brenda Banwell, Flavio Faletra, Michel Sylvain, Urania Kotzaeridou, Tahir Atik, Raymond Fernandez, Stephan Saikali, William S. Benko, Fernando I Monton, Dorota Gieruszczak-Białek, Dolores Gonzalez Moron, Charles Marques Lourenço, Amy Pizzino, Ana Potic, Elsa Rossignol, Ton J. de Grauw, William T. Gibson, Luan T. Tran, Davide Tonduti, Rosalina M. L. van Spaendonk, Rocío Sánchez-Carpintero, Raymond P J Murphy, Guillaume Sébire, Daniela Pohl, Joshua L. Bonkowsky, Christopher Clough, Sandya Tirupathi, Maria Eugenia Garcia Garcia, Christoph Hertzberg, Serge Melançon, Anjum Misbahuddin, Félixe Pelletier, Evangeline Wassmer, Gail Dolan, Marie-France Rioux, Geneviève Bernard, Sunita Venkateswaran, Steffi Patzer, Aline Hamati, Helio Pedro, Hüseyin Onay, Drago Bratkovic, Petra Kolditz, Daniel Tibussek, Sakkubai Naidu, Nicole Ulrick, Emmanouil Rampakakis, William McClintock, Anna Schossig, Mohnish Suri, Grace Yoon, László Sztriha, John R. Østergaard
المساهمون: Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Canadian Institutes of Health Research, Fonds de recherche du Québec, Fonds de Recherche du Québec - Santé, Neurology, Functional Genomics, Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., Sebire, G., Lourenco, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Stromme, P., de Grauw, T., Gieruszczak-Bialek, D., Krageloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., Mcclintock, W., Mcentagart, M., Mckenzie, F., Melancon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Ozkinay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. -F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sonderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., van de Warrenburg, B. P., Vazquez-Lopez, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., van der Knaap, M. S., Vanderver, A., Martos-Moreno, G. A., Polychronakos, C., Wolf, N. I., Bernard, G., Human genetics, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Cellular & Molecular Mechanisms
المصدر: Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sébire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M S, Vanderver, A, Martos-Moreno, G, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700
Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sebire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M, Vanderver, A, Martos-Moreno, G Á, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700
Journal of Clinical Endocrinology and Metabolism, 106, 2, pp. e660-e674
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2021, 106 (2), pp.E660-E674. ⟨10.1210/clinem/dgaa700⟩
Journal of Clinical Endocrinology and Metabolism, 106(2), E660-E674. Endocrine Society
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. Oxford University Press
The Journal of Clinical Endocrinology and Metabolism
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Clinical Endocrinology and Metabolism, 106, e660-e674
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. The Endocrine Society
The journal of clinical endocrinology & metabolism 106(2), e660-e674 (2021). doi:10.1210/clinem/dgaa700مصطلحات موضوعية: Male, Recessive Mutations, Mitochondrial Diseases, genetics [Mitochondrial Diseases], hypomyelination, etiology [Endocrine System Diseases], Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Medizin, POLR3A protein, human, genetics [Endocrine System Diseases], Biochemistry, Cohort Studies, 0302 clinical medicine, Endocrinology, etiology [Growth Disorders], Diagnosis, epidemiology [Growth Disorders], 4H leukodystrophy, Online Only articles, Child, Prospective cohort study, Growth Disorders, genetics [Growth Disorders], POLR3-related leukodystrophy, 0303 health sciences, DNA-Directed RNA Polymerases, Pattern-Recognition, Diffuse Hypomyelination, Classification, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 3. Good health, epidemiology [Hereditary Central Nervous System Demyelinating Diseases], Hormone Deficiency, POLR1C protein, human, Child, Preschool, Female, medicine.symptom, AcademicSubjects/MED00250, Adult, Delayed puberty, Subunit, medicine.medical_specialty, Adolescent, Context (language use), Endocrine System Diseases, Short stature, genetics [Hereditary Central Nervous System Demyelinating Diseases], Genetic Heterogeneity, Young Adult, 03 medical and health sciences, SDG 3 - Good Health and Well-being, hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism, etiology [Hypogonadism], Internal medicine, medicine, genetics [RNA Polymerase III], Humans, Endocrine system, ddc:610, POLR3B protein, human, genetics [DNA-Directed RNA Polymerases], Clinical Research Articles, Retrospective Studies, 030304 developmental biology, complications [Hereditary Central Nervous System Demyelinating Diseases], business.industry, Hypogonadism, Biochemistry (medical), Leukodystrophy, Infant, Newborn, Infant, RNA Polymerase III, medicine.disease, complications [Mitochondrial Diseases], epidemiology [Mitochondrial Diseases], epidemiology [Endocrine System Diseases], Hereditary Central Nervous System Demyelinating Diseases, Cross-Sectional Studies, Biological Variation, Population, Mutation, epidemiology [Hypogonadism], business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Hormone
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1343e0c39bf5133e3bb46b5d53289c04
https://hdl.handle.net/1871.1/41a14d43-770b-4a89-bd8f-5704f4571b69 -
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المؤلفون: Annemieke J.M. Rozemuller, Hulya Ulugut Erkoyun, Anke A. Dijkstra, Philip Scheltens, Marta Scarioni, Sven J. van der Lee, Fatih Tepgec, Bas Nijmeijer, Zerrin Yıldırım, Frederik Barkhof, Başar Bilgiç, Petra E. Cohn-Hokke, Hakan Gurvit, Wiesje M. van der Flier, Yolande A.L. Pijnenburg, Anne Nelissen, Bedia Samanci, Rosalina M. L. van Spaendonk
المساهمون: Amsterdam Neuroscience - Neurodegeneration, Amsterdam Neuroscience - Neuroinfection & -inflammation, Human Genetics, Neurology, Human genetics, Pathology, Radiology and nuclear medicine, Amsterdam Neuroscience - Brain Imaging, APH - Personalized Medicine, APH - Methodology
المصدر: Journal of Alzheimer s disease, 79(3), 1195-1201. IOS Press
Erkoyun, H U, van der Lee, S J, Nijmeijer, B, van Spaendonk, R, Nelissen, A, Scarioni, M, Dijkstra, A, Samancı, B, Gürvit, H, Yıldırım, Z, Tepgeç, F, Bilgic, B, Barkhof, F, Rozemuller, A, van der Flier, W M, Scheltens, P, Cohn-Hokke, P & Pijnenburg, Y 2021, ' The right temporal variant of frontotemporal dementia is not genetically sporadic: A case series ', Journal of Alzheimer's Disease, vol. 79, no. 3, pp. 1195-1201 . https://doi.org/10.3233/JAD-201191
Journal of Alzheimer's Disease, 79(3), 1195-1201. IOS Press
Journal of Alzheimer's Diseaseمصطلحات موضوعية: Male, 0301 basic medicine, tau Proteins, Frontotemporal lobar degeneration, Gyrus Cinguli, TARDBP, Functional Laterality, Primary progressive aphasia, 03 medical and health sciences, Progranulins, 0302 clinical medicine, Genetic, mental disorders, medicine, MAPT, Humans, Dementia, Right temporal lobe, In patient, Genetic Testing, Family history, Clinical syndrome, Genetics, General Neuroscience, right temporallobe, Genetic Variation, General Medicine, Middle Aged, medicine.disease, DNA-Binding Proteins, Psychiatry and Mental health, Clinical Psychology, Aphasia, Primary Progressive, 030104 developmental biology, Female, Geriatrics and Gerontology, 030217 neurology & neurosurgery, Frontotemporal dementia, GRN, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff4a26e4512286ee103f3530be297034
https://pure.amc.nl/en/publications/the-right-temporal-variant-of-frontotemporal-dementia-is-not-genetically-sporadic(b65b6072-2f5e-4fbe-a638-9ce1717e90d3).html -
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المؤلفون: Hanne Meijers-Heijboer, Sven J. van der Lee, Wiesje M. Flier, Philip Scheltens, Henne Holstege, Rosalina M. L. van Spaendonk, Crista Minderhoud
المصدر: Alzheimer's & Dementia. 14
مصطلحات موضوعية: Genetics, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Epidemiology, Health Policy, SORL1, Neurology (clinical), Geriatrics and Gerontology, Biology, Gene
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المؤلفون: Ferdy K. Cayami, L Gauquelin, Dagmar Timmann, Marjo S. van der Knaap, Stefano D'Arrigo, László Sztriha, Nivedita Thakur, Gessica Vasco, Geneviève Bernard, Heike Philippi, Nicole I. Wolf, Richard Webster, Bart P.C. van de Warrenburg, François Hocke, Julia Rankin, Enrico Bertini, Adeline Vanderver, Abhijit Dixit, Penny Fallon, Kara Stuart Lewis, Dmitriy Niyazov, Sébastien Fribourg, Luan T. Tran, Trine Prescott, Rosalina M. L. van Spaendonk, Michael C. Kruer, Richard E. Person, Grace Yoon, Cyril Goizet, Eva Lai-Wah Fung, Isabelle Thiffault, Davide Tonduti, Evangeline Wassmer, Suvasini Sharma, Meriel McEntagart, Kether Guerrero, Claire Searle, Ddd Study
المصدر: Neurology. Genetics, 5, 6
Neurology: Genetics
Neurology. Genetics, 5مصطلحات موضوعية: Pathology, medicine.medical_specialty, Medizin, Article, White matter, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, medicine, Craniofacial, Genetics (clinical), 030304 developmental biology, 0303 health sciences, business.industry, Leukodystrophy, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Hyperintensity, 3. Good health, medicine.anatomical_structure, Severe phenotype, Male patient, Cohort, Neurology (clinical), business, Treacher Collins syndrome, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3eeee784f1e83f602c5ecec093bb9d1
https://doi.org/10.1212/nxg.0000000000000369 -
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المساهمون: Clinical Genetics, Graduate School, Other departments, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), NCA - Brain mechanisms in health and disease
المصدر: Bouman, A, van Haelst, M & van Spaendonk, R 2018, ' Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element ', Clinical Dysmorphology, vol. 27, no. 2, pp. 58-62 . https://doi.org/10.1097/MCD.0000000000000216
Clinical Dysmorphology, 27(2), 58-62. Lippincott Williams & Wilkins
Clinical dysmorphology, 27(2), 58-62. Lippincott Williams and Wilkins
Clinical Dysmorphology, 27(2), 58-62. Lippincott Williams and Wilkinsمصطلحات موضوعية: 0301 basic medicine, Forkhead Box Protein L2, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Telecanthus, Blepharophimosis, Pathology and Forensic Medicine, 03 medical and health sciences, Ptosis, otorhinolaryngologic diseases, medicine, Humans, Genetics (clinical), Enhancer Elements, business.industry, Epicanthus inversus, General Medicine, medicine.disease, Dermatology, eye diseases, Premature ovarian failure, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Enhancer Elements, Genetic, Urogenital Abnormalities, Pediatrics, Perinatology and Child Health, Skin Abnormalities, Female, RNA, Long Noncoding, Eyelid, Anatomy, medicine.symptom, Chromosome Deletion, business, Cis-regulatory element
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f730d90874d64dd1f78ce6479cb6362
https://pubmed.ncbi.nlm.nih.gov/29481440 -
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المؤلفون: Marjo S. van der Knaap, Grace M. Hobson, Geneviève Bernard, Lorena Travaglini, Maja Tarailo-Graovac, Coriene E. Catsman-Berrevoets, Jennifer R. Taube, Simona Orcesi, Mark A. Tarnopolsky, Davide Tonduti, Enrico Bertini, Jolanda H. Schieving, Truus E.M. Abbink, Karen Sperle, Clara D.M. van Karnebeek, Nicole I. Wolf, Enza Maria Valente, Sietske H. Kevelam, Quinten Waisfisz, Marjan E. Steenweg, Carola G.M. van Berkel, Richard L. Friederich, John R. Østergaard, Mahmoud F. Elsaid, Erik A. Sistermans, Rosalina M. L. van Spaendonk
المساهمون: Clinical Genetics, Neurology, Pediatric surgery, Human genetics, NCA - Brain mechanisms in health and disease, Other departments, Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease
المصدر: Kevelam, S H, Taube, J R, van Spaendonk, R M L, Bertini, E, Sperle, K, Tarnopolsky, M, Tonduti, D, Valente, E M, Travaglini, L, Sistermans, E A, Bernard, G, Catsman-Berrevoets, C E, van Karnebeek, C D M, Ostergaard, J R, Friederich, R L, Elsaid, M F, Schieving, J H, Tarailo-Graovac, M, Orcesi, S, Steenweg, M E, van Berkel, C G M, Waisfisz, Q, Abbink, G E M, Knaap, M, Hobson, G M & Wolf, N I 2015, ' Altered PLP1 splicing causes hypomyelination of early myelinating structures ', Annals of Clinical and Translational Neurology, vol. 2, no. 6, pp. 648-661 . https://doi.org/10.1002/acn3.203
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 2(6), 648-661. John Wiley & Sons Inc.
Annals of Clinical and Translational Neurology, 2(6), 648-661. John Wiley and Sons Ltd
Annals of clinical and translational neurology, 2(6), 648-661. John Wiley and Sons Ltd
Kevelam, S H, Taube, J R, van Spaendonk, R M L, Bertini, E, Sperle, K, Tarnopolsky, M, Tonduti, D, Valente, E M, Travaglini, L, Sistermans, E A, Bernard, G, Catsman-Berrevoets, C E, van Karnebeek, C D M, Østergaard, J R, Friederich, R L, Fawzi Elsaid, M, Schieving, J H, Tarailo-Graovac, M, Orcesi, S, Steenweg, M E, van Berkel, C G M, Waisfisz, Q, Abbink, T E M, van der Knaap, M S, Hobson, G M & Wolf, N I 2015, ' Altered PLP1 splicing causes hypomyelination of early myelinating structures ', Annals of clinical and translational neurology, vol. 2, no. 6, pp. 648-61 . https://doi.org/10.1002/acn3.203مصطلحات موضوعية: Genetics, 0303 health sciences, Splice site mutation, General Neuroscience, Alternative splicing, Exonic splicing enhancer, Intron, Biology, 03 medical and health sciences, Exon, 0302 clinical medicine, RNA splicing, Neurology (clinical), Exonic splicing silencer, 030217 neurology & neurosurgery, Research Articles, 030304 developmental biology, Minigene
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المؤلفون: Kether Guerrero, Geneviève Bernard, Marjo S. van der Knaap, Ferdy K. Cayami, Roberta La Piana, Annette Bley, Nicole I. Wolf, Luan T. Tran, Rosalina M. L. van Spaendonk, Miriam Nickel
المساهمون: Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Human genetics, Pediatric surgery, NCA - Brain mechanisms in health and disease, Other departments
المصدر: Cayami, F K, La Piana, R, van Spaendonk, R M L, Nickel, M, Bley, A, Guerrero, K, Tran, L T, Knaap, M, Bernard, G & Wolf, N I 2015, ' POLR3A and POLR3B Mutations in Unclassified Hypomyelination ', Neuropediatrics, vol. 46, no. 3, pp. 221-227 . https://doi.org/10.1055/s-0035-1550148
Neuropediatrics, 46(3), 221-227. Hippokrates Verlag GmbHمصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Ataxia, Adolescent, Developmental Disabilities, DNA Mutational Analysis, Compound heterozygosity, Cohort Studies, Young Adult, SDG 3 - Good Health and Well-being, Intellectual disability, medicine, Humans, Spasticity, Child, medicine.diagnostic_test, business.industry, Leukodystrophy, Brain, Infant, RNA Polymerase III, Magnetic resonance imaging, General Medicine, medicine.disease, Magnetic Resonance Imaging, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Mutation, Female, Neurology (clinical), medicine.symptom, business, Cohort study, Demyelinating Diseases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f043279fc00a1487bbd66877b9b7a580
https://doi.org/10.1055/s-0035-1550148