المؤلفون: Miguel Schön, Carla Bentes, Carlos Morgado, Miguel Oliveira Santos

المصدر: Acta Médica Portuguesa (2024)

مصطلحات موضوعية: Epilepsy/etiology, Laminin/genetics, Muscular Dystrophies/congenital, Nervous System Malformations/genetics, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/21928; https://doaj.org/toc/0870-399X; https://doaj.org/toc/1646-0758

URL الوصول: https://doaj.org/article/6543fbd24e724996bde5777f7f553716

المؤلفون: Kratochwila, C., Pomar, L., Lebon, S., Gengler, C., Pavlidou, D.C., Good, J.M., Kumps, C., Sichitiu, J.

المصدر: Prenatal diagnosis, vol. 44, no. 12, pp. 1526-1529

مصطلحات موضوعية: Humans, Female, Pregnancy, DEAD-box RNA Helicases/genetics, Fetal Growth Retardation/genetics, Fetal Growth Retardation/diagnosis, Fetal Growth Retardation/diagnostic imaging, Adult, Ultrasonography, Prenatal, Exome Sequencing, Heterozygote, Microcephaly/genetics, Microcephaly/diagnosis, Microcephaly/diagnostic imaging, DNA Helicases/genetics, Abnormalities, Multiple/genetics, Multiple/diagnosis, Multiple/diagnostic imaging, Nervous System Malformations/genetics, Nervous System Malformations/diagnosis, Nervous System Malformations/diagnostic imaging, Prenatal Diagnosis/methods, DDX11, Warsaw Breakage Syndrome, cerebellar vermis hypoplasia, cohesinopathy, delayed sulcation, intrahepatic portal‐systemic shunt

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/39428552; info:eu-repo/semantics/altIdentifier/eissn/1097-0223; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_9F3C8D6CE7058; https://serval.unil.ch/notice/serval:BIB_9F3C8D6CE705; https://serval.unil.ch/resource/serval:BIB_9F3C8D6CE705.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_9F3C8D6CE705
https://doi.org/10.1002/pd.6684
https://serval.unil.ch/resource/serval:BIB_9F3C8D6CE705.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_9F3C8D6CE7058

المؤلفون: Khalaf-Nazzal, R., Fasham, J., Inskeep, K. A., Blizzard, L. E., Leslie, J. S., Wakeling, M. N., Ubeyratna, N., Mitani, T., Griffith, J. L., Baker, W., Al-Hijawi, F., Keough, K. C., Gezdirici, A., Pena, L., Spaeth, C. G., Turnpenny, P. D., Walsh, J. R., Ray, R., Neilson, A., Kouranova, E., Cui, X., Curiel, D. T., Pehlivan, D., Akdemir, Z. C., Posey, J. E., Lupski, J. R., Dobyns, W. B., Stottmann, R. W., Crosby, A. H., Baple, E. L.

مصطلحات موضوعية: Humans, Animals, Mice, Lissencephaly/genetics, Alleles, Tubulin/genetics, Phenotype, Nervous System Malformations/genetics, Classical Lissencephalies and Subcortical Band Heterotopias/genetics, Knockout, Microtubule-Associated Proteins/genetics, Mark2, agyria, autosomal recessive, lissencephaly, neurodevelopmental disorder, pachygyria, patronin, tubulinopathy

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(22)00415-3; Am J Hum Genet. 2022 Nov 3;109(11):2068-2079. doi:10.1016/j.ajhg.2022.09.012. Epub 2022 Oct 24.; https://rde.dspace-express.com/handle/11287/622694; American journal of human genetics; PMC9674946

الاتاحة: https://doi.org/10.1016/j.ajhg.2022.09.012
https://rde.dspace-express.com/handle/11287/622694

المؤلفون: Schön, Miguel, Bentes, Carla, Morgado, Carlos, Oliveira Santos, Miguel

مصطلحات موضوعية: Epilepsy/etiology, Laminin/genetics, Muscular Dystrophies/congenital, Nervous System Malformations/genetics, Distrofias Musculares/congénitas, Epilepsia/etiologia, Laminina/genética, Malformações do Sistema Nervoso/genética

وصف الملف: application/pdf

Relation: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/21928; https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/21928/15520

الاتاحة: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/21928

المؤلفون: Lecca, M., Pehlivan, D., Suñer, D.H., Weiss, K., Coste, T., Zweier, M., Oktay, Y., Danial-Farran, N., Rosti, V., Bonasoni, M.P., Malara, A., Contrò, G., Zuntini, R., Pollazzon, M., Pascarella, R., Neri, A., Fusco, C., Marafi, D., Mitani, T., Posey, J.E., Bayramoglu, S.E., Gezdirici, A., Hernandez-Rodriguez, J., Cladera, E.A., Miravet, E., Roldan-Busto, J., Ruiz, M.A., Bauzá, C.V., Ben-Sira, L., Sigaudy, S., Begemann, A., Unger, S., Güngör, S., Hiz, S., Sonmezler, E., Zehavi, Y., Jerdev, M., Balduini, A., Zuffardi, O., Horvath, R., Lochmüller, H., Rauch, A., Garavelli, L., Tournier-Lasserve, E., Spiegel, R., Lupski, J.R., Errichiello, E.

المصدر: American journal of human genetics, vol. 110, no. 4, pp. 681-690

مصطلحات موضوعية: Animals, Mice, Alleles, Brain Diseases/genetics, Cell Adhesion Molecules/genetics, Endothelial Cells/metabolism, Intracranial Hemorrhages/genetics, Nervous System Malformations/genetics, Neurodevelopmental Disorders/genetics, Tight Junctions/genetics, Humans, ESAM, blood-brain barrier, epilepsy, exome sequencing, global developmental delay, intellectual disability, intracranial hemorrhage, neurodevelopmental disorders, pregnancy loss, retinopathy, tight junctions

Relation: info:eu-repo/semantics/altIdentifier/pmid/36996813; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_261A60E3FC55

الاتاحة: https://serval.unil.ch/notice/serval:BIB_261A60E3FC55
https://doi.org/10.1016/j.ajhg.2023.03.005

المؤلفون: Hansen, Anne Louise, Buchan, Gregory J, Rühl, Michael, Mukai, Kojiro, Salvatore, Sonia R, Ogawa, Emari, Andersen, Sidsel D, Iversen, Marie B, Thielke, Anne L, Gunderstofte, Camilla, Motwani, Mona, Møller, Charlotte T, Jakobsen, Andreas S, Fitzgerald, Katherine A, Roos, Jessica, Lin, Rongtuan, Maier, Thorsten J, Goldbach-Mansky, Raphaela, Miner, Cathrine A, Qian, Wei, Miner, Jonathan J, Rigby, Rachel E, Rehwinkel, Jan, Jakobsen, Martin R, Arai, Hiroyuki, Taguchi, Tomohiko, Schopfer, Francisco J, Olagnier, David, Holm, Christian K

المصدر: Hansen , A L , Buchan , G J , Rühl , M , Mukai , K , Salvatore , S R , Ogawa , E , Andersen , S D , Iversen , M B , Thielke , A L , Gunderstofte , C , Motwani , M , Møller , C T , Jakobsen , A S , Fitzgerald , K A , Roos , J , Lin , R , Maier , T J , Goldbach-Mansky , R , Miner , C A , Qian , W , Miner , J J , Rigby , R ....

مصطلحات موضوعية: Animals, Autoimmune Diseases of the Nervous System/genetics, Fatty Acids/metabolism, Herpes Simplex/genetics, Herpesvirus 2, Human/metabolism, Humans, Interferon Type I/genetics, Lipoylation, Lupus Erythematosus, Systemic/genetics, Membrane Proteins/genetics, Mice, Knockout, Nervous System Malformations/genetics, RAW 264.7 Cells, Signal Transduction

وصف الملف: application/pdf

الاتاحة: https://pure.au.dk/portal/en/publications/2c067f72-0715-4af7-84fb-01c5e456f6ce
https://doi.org/10.1073/pnas.1806239115
https://pure.au.dk/ws/files/167676792/E7768.full.pdf

المؤلفون: Marco L. Leung, Whitney Woodhull, Carolina Uggenti, Shauna Schord, Raul Perez Mato, Diana P. Rodriguez, Margie Ream, Yanick J. Crow, Mari Mori

المصدر: Leung, M L, Woodhull, W, Uggenti, C, Schord, S, Mato, R P, Rodriguez, D P, Ream, M, Crow, Y J & Mori, M 2023, ' Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome ', European journal of medical genetics, vol. 66, no. 4, pp. 104731 . https://doi.org/10.1016/j.ejmg.2023.104731

مصطلحات موضوعية: Autoimmune Diseases of the Nervous System/genetics, Mutation, Genetics, Humans, Exome, General Medicine, Nervous System Malformations/genetics, Genetics (clinical)

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::591d527246842213c7e9f718703dbb91
https://doi.org/10.1016/j.ejmg.2023.104731

المؤلفون: Mattioli, F., Voisin, N., Preikšaitienė, E., Kozlovskaja, I., Kučinskas, V., Reymond, A.

المصدر: American journal of medical genetics. Part A, vol. 185, no. 4, pp. 1275-1281

مصطلحات موضوعية: Adolescent, Adult, Ataxia/diagnosis, Ataxia/genetics, Ataxia/pathology, Cadherins/genetics, Child, Developmental Disabilities/diagnosis, Developmental Disabilities/genetics, Developmental Disabilities/pathology, Diencephalon/diagnostic imaging, Diencephalon/pathology, Female, Homozygote, Humans, Loss of Function Mutation/genetics, Male, Microcephaly/diagnosis, Microcephaly/genetics, Microcephaly/pathology, Nervous System Malformations/diagnosis, Nervous System Malformations/genetics, Nervous System Malformations/pathology, Pedigree, Retinal Diseases/diagnostic imaging, Retinal Diseases/genetics, Retinal Diseases/pathology, PCDH12, diencephalic-mesencephalic junction dysplasia syndrome, retinopathy

Relation: info:eu-repo/semantics/altIdentifier/pmid/33527719; info:eu-repo/semantics/altIdentifier/eissn/1552-4833; https://serval.unil.ch/notice/serval:BIB_B93FEF5A7F21

الاتاحة: https://serval.unil.ch/notice/serval:BIB_B93FEF5A7F21
https://doi.org/10.1002/ajmg.a.62098

المؤلفون: Collier, Jack J, Guissart, Claire, Azzarello-Burri, Silvia, Reich, Selina, Schöls, Ludger, Polvikoski, Tuomo M, Meyer, Pierre, Larrieu, Lise, Schaefer, Andrew M, Alsaif, Hessa S, Alyamani, Suad, Zuchner, Stephan, Oláhová, Monika, Barbosa, Inês A, Deshpande, Charu, Pyle, Angela, Rauch, Anita, Synofzik, Matthis, Alkuraya, Fowzan S, Rivier, François, Ryten, Mina, McFarland, Robert, Delahodde, Agnès, Sasorith, Souphatta, McWilliams, Thomas G, Koenig, Michel, Taylor, Robert W, Piron-Prunier, Florence, Suomi, Fumi, Zhang, David, Martinez-Lopez, Nuria, Leboucq, Nicolas, Bahr, Angela

المصدر: The New England journal of medicine 384(25), 2406 - 2417 (2021). doi:10.1056/NEJMoa1915722

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Abnormalities, Multiple: genetics, Adolescent, Adult, Ataxia: genetics, Autophagy: genetics, Autophagy: physiology, Autophagy-Related Protein 7: genetics, Autophagy-Related Protein 7: physiology, Cells, Cultured, Cerebellum: abnormalities, Computer Simulation, Developmental Disabilities: genetics, Face: abnormalities, Female, Fibroblasts, Genes, Recessive, Humans, Infant, Male, Muscle, Skeletal: metabolism, Skeletal: pathology, Mutation, Missense, Nervous System Malformations: genetics, Pedigree

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:34161705; info:eu-repo/semantics/altIdentifier/issn/0028-4793; info:eu-repo/semantics/altIdentifier/issn/1533-4406; https://pub.dzne.de/record/155834; https://pub.dzne.de/search?p=id:%22DZNE-2021-00994%22

الاتاحة: https://pub.dzne.de/record/155834
https://pub.dzne.de/search?p=id:%22DZNE-2021-00994%22

المؤلفون: Lu, Weining, Quintero-Rivera, Fabiola, Fan, Yanli, Alkuraya, Fowzan S, Donovan, Diana J, Xi, Qiongchao, Turbe-Doan, Annick, Li, Qing-Gang, Campbell, Craig G, Shanske, Alan L, Sherr, Elliott H, Ahmad, Ayesha, Peters, Roxana, Rilliet, Bénédict, Parvex, Paloma Maria, Bassuk, Alexander G, Harris, David J, Ferguson, Heather, Kelly, Chantal, Walsh, Christopher A, Gronostajski, Richard M, Devriendt, Koenraad, Higgins, Anne, Ligon, Azra H, Quade, Bradley J, Morton, Cynthia C, Gusella, James F, Maas, Richard L

المصدر: ISSN: 1553-7390 ; PLOS genetics, vol. 3, no. 5 (2007) e80.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616.8, info:eu-repo/classification/ddc/618, Abnormalities, Multiple/genetics, Animals, Child, Preschool, Chromosomes, Human, Pair 1/genetics, Embryo, Mammalian/metabolism, Female, Gene Expression Regulation, Developmental, Gene Rearrangement, Genetic Predisposition to Disease, Haploidy, Humans, Infant, Kidney/abnormalities/embryology/metabolism, Male, Mice, Mutation/genetics, NFI Transcription Factors/genetics/metabolism, Nervous System Malformations/genetics, Phenotype, Spinal Cord/metabolism, Syndrome, Ureter/abnormalities/embryology/metabolism/pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/17530927; https://archive-ouverte.unige.ch/unige:43968; unige:43968

الاتاحة: https://archive-ouverte.unige.ch/unige:43968

المؤلفون: Dansault, A., David, G., Schwartz, C., Jaliffa, C., Vieira, V., de la Houssaye, G., Bigot, K., Catin, F., Tattu, L., Chopin, C., Halimi, P., Roche, O., Van Regemorter, N., Munier, F., Schorderet, D., Dufier, J. L., Marsac, C., Ricquier, D., Menasche, M., Penfornis, A., Abitbol, M.

المصدر: Molecular Vision, vol. 13, pp. 511-23

مصطلحات موضوعية: Abnormalities, Multiple/genetics Adolescent Adult Aged Aniridia/genetics Anterior Eye Segment/abnormalities Cataract/complications/genetics Child Child, Preschool Eye Abnormalities/*genetics Eye Proteins/*genetics Homeodomain Proteins/*genetics Humans Infant Infant, Newborn Microphthalmos/complications/genetics Middle Aged *Mutation Nervous System Malformations/*genetics Nystagmus, Congenital/complications/genetics Paired Box Transcription Factors/*genetics Phenotype Repressor Proteins/*genetics

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/17417613; info:eu-repo/semantics/altIdentifier/eissn/1090-0535; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D53EE0A856A74; https://serval.unil.ch/notice/serval:BIB_D53EE0A856A7; https://serval.unil.ch/resource/serval:BIB_D53EE0A856A7.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_D53EE0A856A7
https://serval.unil.ch/resource/serval:BIB_D53EE0A856A7.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D53EE0A856A74

المؤلفون: Preiksaitiene, E., Voisin, N., Gueneau, L., Benušienė, E., Krasovskaja, N., Blažytė, E.M., Ambrozaitytė, L., Rančelis, T., Reymond, A., Kučinskas, V.

المصدر: American journal of medical genetics. Part A, vol. 182, no. 3, pp. 536-542

مصطلحات موضوعية: Adult, Brain/diagnostic imaging, Brain/pathology, Codon, Nonsense/genetics, Female, Homozygote, Humans, Infant, Newborn, Male, Muscular Dystrophies, Limb-Girdle/diagnosis, Limb-Girdle/diagnostic imaging, Limb-Girdle/genetics, Limb-Girdle/pathology, Mutation/genetics, Nervous System Malformations/diagnosis, Nervous System Malformations/diagnostic imaging, Nervous System Malformations/genetics, Nervous System Malformations/pathology, Pedigree, Pregnancy, Protein Kinases/genetics, Ultrasonography, Prenatal, POMK, Walker-Warburg syndrome, hydrocephalus, muscular dystrophy-dystroglycanopathy

Relation: info:eu-repo/semantics/altIdentifier/pmid/31833209; info:eu-repo/semantics/altIdentifier/eissn/1552-4833; https://serval.unil.ch/notice/serval:BIB_E560C613EBEE

الاتاحة: https://serval.unil.ch/notice/serval:BIB_E560C613EBEE
https://doi.org/10.1002/ajmg.a.61453

المؤلفون: Brooks, A.S. (Alice), Coo, I.F.M. (René) de, Matera, I. (Ivana), Graaff, E. (Esther) de, Meijers, C. (Carel), Willems, P.J. (Patrick), Tibboel, D. (Dick), Oostra, B.A. (Ben), Hofstra, R.M.W. (Robert), Bertoli Avella, A.M. (Aida), Burzynski, G.M. (Grzegorz), Breedveld, G.J. (Guido), Osinga, J. (Jan), Boven, L.G. (Ludolf), Hurst, J.A. (Jane), Mancini, G.M.S. (Grazia), Lequin, M.H. (Maarten)

المصدر: American Journal of Human Genetics vol. 77 no. 1, pp. 120-126

مصطلحات موضوعية: Codon, Nonsense, Abnormalities, Multiple, Base Sequence, Chromosomes, Human, Pair 10, Consanguinity, Enteric Nervous System/*abnormalities, Female, Hirschsprung Disease/genetics, Humans, Male, Mental Retardation/genetics, Nerve Tissue Proteins, Nervous System Malformations/*genetics, Pedigree, Research Support, Non-U.S. Gov't, Syndrome

Relation: http://repub.eur.nl/pub/60317; urn:hdl:1765/60317

الاتاحة: http://repub.eur.nl/pub/60317
https://doi.org/10.1086/431244

المؤلفون: D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A.

المساهمون: Blaumeiser, Bettina, Kooy, Frank, Other departments, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Knoers, VA., Martinet, D., Belfiore, M., Cuvellier, JC., de Vries, B., Delrue, MA., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Minet, JC., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, BH., Koolen, DA., Vulto-van Silfhout, A., de Leeuw, N., Rosenfeld, JA., Filges, I., Achatz, E., Roetzer, KM., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, PM., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, GP., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Fréminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, RF., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, AL., Benedetti, M., Berg, J., Berman, J., Berry, LN., Bibb, AL., Blaskey, L., Brennan, J., Brewton, CM., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, AG., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, JE., Evans, YL., Findlay, A., Fischbach, GD., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, SE., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, FI., Jenkins J.3rd, Jeremy, RJ., Johnson, K., Kanne, SM., Kessler, S., Khan, SY., Ku, M., Kuschner, E., Laakman, AL., Lam, P., Lasala, MW., Lee, H., LaGuerre, K., Levy, S., Lian Cavanagh, A., Llorens, AV., Loftus Campe, K., Luks, TL., Marco, EJ., Martin, S., Martin, AJ., Marzano, G., Masson, C., McGovern, KE., McNally Keehn, R., Miller, DT., Miller, FK., Moss, TJ., Murray, R., Nagarajan, SS., Nowell, KP., Owen, J., Paal, AM., Packer, A., Page, PZ., Paul, BM., Peters, A., Peterson, D., Poduri, A., Pojman, NJ., Porche, K., Proud, MB., Qasmieh, S., Ramocki, MB., Reilly, B., Roberts, TP., Shaw, D., Sinha, T., Smith-Packard, B., Snow Gallagher, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: JAMA psychiatry
Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study 2016, ' Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities ', JAMA Psychiatry, vol. 73, no. 1, pp. 20-30 . https://doi.org/10.1001/jamapsychiatry.2015.2123
JAMA PSYCHIATRY
JAMA psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 1, pp. 20-30
JAMA Psychiatry
Jama Psychiatry, vol. 73, no. 1, pp. 20-30
JAMA Psychiatry, 73(1), 20. American Medical Association
JAMA Psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 20-30

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Pediatrics, Autism Spectrum Disorder, Developmental Disabilities, Chromosome Disorders, Comorbidity, Nonverbal learning disorder, Cohort Studies, Cognition, 0302 clinical medicine, Cerebellum, Chromosome Duplication, Gene duplication, Copy-number variation, Non-U.S. Gov't, Child, 2. Zero hunger, Intelligence quotient, Research Support, Non-U.S. Gov't, Middle Aged, Psychiatry and Mental health, Microcephaly, Female, Schizophrenic Psychology, Chromosome Deletion, Psychology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Research Support, Nervous System Malformations, Article, Chromosomes, Young Adult, 03 medical and health sciences, Intellectual Disability, Journal Article, medicine, Humans, Autistic Disorder, Preschool, Psychiatry, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, Pair 16, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Case-control study, Autism Spectrum Disorder/epidemiology, Autism Spectrum Disorder/genetics, Autistic Disorder/epidemiology, Autistic Disorder/genetics, Case-Control Studies, Cerebellum/abnormalities, Child, Preschool, Chromosome Disorders/epidemiology, Chromosome Disorders/genetics, Chromosomes, Human, Pair 16/genetics, Developmental Disabilities/epidemiology, Developmental Disabilities/genetics, Epilepsy/epidemiology, Epilepsy/genetics, Intellectual Disability/epidemiology, Intellectual Disability/genetics, Microcephaly/epidemiology, Microcephaly/genetics, Nervous System Malformations/epidemiology, Nervous System Malformations/genetics, Schizophrenia/epidemiology, Schizophrenia/genetics, medicine.disease, 030104 developmental biology, Chromosomes, Human, Pair 16, Schizophrenia, Autism, Human medicine, 030217 neurology & neurosurgery

وصف الملف: image/pdf; pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::221714038bda1846e56d6e2e8e45f87a
http://archpsyc.jamanetwork.com/article.aspx?articleid=2471269

المؤلفون: Tumienė, B., Voisin, N., Preikšaitienė, E., Petroška, D., Grikinienė, J., Samaitienė, R., Utkus, A., Reymond, A., Kučinskas, V.

المصدر: European Journal of Medical Genetics, vol. 60, no. 3, pp. 154-158

مصطلحات موضوعية: Autoimmune Diseases of the Nervous System/genetics, Autoimmune Diseases of the Nervous System/pathology, Base Sequence, Child, DNA, Mitochondrial/genetics, Exodeoxyribonucleases/genetics, Female, Genetic Predisposition to Disease, Humans, Interferon Type I/immunology, Mitochondria/genetics, Mitochondria/pathology, Myositis/pathology, Nervous System Malformations/genetics, Nervous System Malformations/pathology, Phosphoproteins/genetics, Sequence Analysis

Relation: info:eu-repo/semantics/altIdentifier/pmid/28089741; info:eu-repo/semantics/altIdentifier/eissn/1878-0849; https://serval.unil.ch/notice/serval:BIB_0DE163527E7F

الاتاحة: https://serval.unil.ch/notice/serval:BIB_0DE163527E7F
https://doi.org/10.1016/j.ejmg.2016.12.004

المؤلفون: John Hiscott, David Olagnier, Rongtuan Lin, Alexandre Sze, Julien van Grevenynghe

المصدر: Sze, A, Olagnier, D, Lin, R, van Grevenynghe, J & Hiscott, J 2013, ' SAMHD1 host restriction factor : a link with innate immune sensing of retrovirus infection ', Journal of Molecular Biology, vol. 425, no. 24, pp. 4981-94 . https://doi.org/10.1016/j.jmb.2013.10.022

مصطلحات موضوعية: Autoimmune Diseases of the Nervous System/genetics, Virus Replication/immunology, HIV Infections, Plasmacytoid dendritic cell, Biology, Retroviridae/immunology, Nervous System Malformations, Virus Replication, SAM Domain and HD Domain-Containing Protein 1, HIV Infections/immunology, Structure-Activity Relationship, Viral Proteins, Autoimmune Diseases of the Nervous System, Immune system, Retrovirus, Viral life cycle, HIV-1/immunology, Structural Biology, Immunity, Innate/immunology, Retroviridae Infections/immunology, Humans, Viral Regulatory and Accessory Proteins, Monomeric GTP-Binding Proteins/chemistry, Molecular Biology, Monomeric GTP-Binding Proteins, Gene Expression Regulation/immunology, Innate immune system, HIV-2/immunology, Models, Immunological, Viral Regulatory and Accessory Proteins/genetics, DNA, Viral/genetics, biology.organism_classification, Virology, Immunity, Innate, Reverse transcriptase, Retroviridae, Gene Expression Regulation, Viral Proteins/genetics, DNA, Viral, HIV-2, Host-Pathogen Interactions, HIV-1, Nervous System Malformations/genetics, Sterile alpha motif, Retroviridae Infections, Signal Transduction, SAMHD1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9abccd659b637fe0a77a2238a0eb249d
https://doi.org/10.1016/j.jmb.2013.10.022

المؤلفون: Enerly, Espen, Larsson, Jan, Lambertsson, Andrew

المصدر: Gene. 320:41-8

مصطلحات موضوعية: Abnormalities, Multiple/*genetics, Animals, Crosses, Genetic, Drosophila/*genetics/growth & development, Eye/innervation/metabolism/ultrastructure, Eye Abnormalities/genetics, Female, Gene Expression Regulation, Developmental, Genes, Lethal/genetics, Male, Microscopy, Electron, Scanning, Mutation, Nervous System Malformations/genetics, Phenotype, RNA Interference, Ribosomal Proteins/*genetics

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-17036
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=14597387&dopt=Citation

المؤلفون: Homsy, J., Zaidi, S., Shen, Y., Ware, J. S., Samocha, K. E., Karczewski, K. J., DePalma, S. R., McKean, D., Romano-Adesman, A., Chung, W. K., +31 additional authors

المصدر: Journal Articles

مصطلحات موضوعية: Brain/abnormalities/metabolism, Child, Congenital Abnormalities/genetics, Exome/genetics, Heart Defects, Congenital/*diagnosis/*genetics, Humans, Mutation, Nervous System Malformations/*genetics, Neurogenesis/*genetics, Prognosis, RNA Splicing/genetics, RNA, Messenger/genetics, RNA-Binding Proteins/genetics, Repressor Proteins/genetics, Transcription, Genetic, Pediatrics

وصف الملف: application/pdf

Relation: https://academicworks.medicine.hofstra.edu/publications/2742; https://academicworks.medicine.hofstra.edu/context/publications/article/3743/viewcontent/Science2015v350p1262.pdf

الاتاحة: https://academicworks.medicine.hofstra.edu/publications/2742
https://academicworks.medicine.hofstra.edu/context/publications/article/3743/viewcontent/Science2015v350p1262.pdf

المؤلفون: Clifford, R., Louis, T., Robbe, P., Ackroyd, S., Burns, A., Timbs, A.T., Wright Colopy, G., Dreau, H., Sigaux, F., Judde, J.G., Rotger, M., Telenti, A., Lin, Y.L., Pasero, P., Maelfait, J., Titsias, M., Cohen, D.R., Henderson, S.J., Ross, M.T., Bentley, D., Hillmen, P., Pettitt, A., Rehwinkel, J., Knight, S.J., Taylor, J.C., Crow, Y.J., Benkirane, M., Schuh, A.

المصدر: Blood, vol. 123, no. 7, pp. 1021-1031

مصطلحات موضوعية: Adult, Autoimmune Diseases of the Nervous System/complications, Autoimmune Diseases of the Nervous System/genetics, Cohort Studies, Comparative Genomic Hybridization, DNA Damage/genetics, Gene Frequency, Germ-Line Mutation, HeLa Cells, Humans, Leukemia, Lymphocytic, Chronic, B-Cell/complications, B-Cell/genetics, Male, Monomeric GTP-Binding Proteins/genetics, Nervous System Malformations/complications, Nervous System Malformations/genetics, Young Adult

Relation: info:eu-repo/semantics/altIdentifier/pmid/24335234; info:eu-repo/semantics/altIdentifier/eissn/1528-0020; https://serval.unil.ch/notice/serval:BIB_257E294D4C3F

الاتاحة: https://serval.unil.ch/notice/serval:BIB_257E294D4C3F
https://doi.org/10.1182/blood-2013-04-490847

المؤلفون: Rice, Gillian I, Forte, Gabriella M A GM, Szynkiewicz, Marcin, Chase, Diana S, Aeby, Alec, Abdel-Hamid, Mohamed S, Ackroyd, Sam, Allcock, Rebecca, Bailey, Kathryn M, Balottin, Umberto, Barnerias, Christine, Bernard, Genevieve, Bodemer, Christine, Botella, Maria P, Cereda, Cristina, Chandler, Kate K.E., Dabydeen, Lyvia, Dale, Russell C, De Laet, Corinne, De Goede, Christian G E L CG, Del Toro, Mireia, Effat, Laila, Enamorado, Noemi Nunez, Fazzi, Elisa, Gener, Blanca, Haldre, Madli, Lin, Jean-Pierre S-M JP, Livingston, John JH, Lourenco, Charles Marques, Marques, Wilson, Oades, Patrick, Peterson, Pärt, Rasmussen, Magnhild, Roubertie, Agathe, Schmidt, Johanna Loewenstein, Shalev, Stavit A, Simon, Rogelio, Spiegel, Ronen, Swoboda, Kathryn KJ, Temtamy, Samia SA, Vassallo, Grace, Vilain, Catheline, Vogt, Julie, Wermenbol, Vanessa, Whitehouse, William WP, Soler, Doriette M, Olivieri, I., Orcesi, Simona, Aglan, Mona MS, Zaki, Maha S, Abdel-Salam, Ghada M H, Vanderver, Adeline, Kisand, Kai, Rozenberg, Flore, Lebon, Pierre, Crow, Yanick J

المصدر: Lancet neurology, 12 (12

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Génétique clinique, Génétique moléculaire, Neurologie, Adenosine Deaminase -- genetics, Adolescent, Adult, Autoantibodies -- blood, Autoimmune Diseases of the Nervous System -- genetics -- metabolism, Biomarkers, Case-Control Studies, Child, Preschool, Exodeoxyribonucleases -- genetics, Female, Gene Expression Regulation, Genetic Heterogeneity, Genotype, Humans, Infant, Interferon Type I -- blood -- cerebrospinal fluid -- immunology -- physiology, Male, Monomeric GTP-Binding Proteins -- genetics, Mutation, Nervous System Malformations -- genetics -- metabolism, Neutralization Tests, Phosphoproteins -- genetics, Prospective Studies, RNA, Messenger -- biosynthesis

وصف الملف: 1 full-text file(s): application/pdf

Relation: uri/info:doi/10.1016/S1474-4422(13)70258-8; uri/info:pii/S1474-4422(13)70258-8; uri/info:pmid/24183309; uri/info:scp/84887607415; uri/info:pmcid/PMC4349523; https://dipot.ulb.ac.be/dspace/bitstream/2013/287256/4/elsevier_270883.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/287256

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/287256
https://dipot.ulb.ac.be/dspace/bitstream/2013/287256/4/elsevier_270883.pdf