المؤلفون: Oppermann, H., Marcos-Grañeda, E., Weiss, L.A., Gurnett, C.A., Jelsig, A.M., Vineke, S.H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., Hashim, M., Pagnamenta, A.T., Race, S., Srivastava, S., Frazier, Z., Maiwald, R., Pergande, M., Milani, D., Rinelli, M., Levy, J., Krey, I., Fontana, P., Lonardo, F., Riley, S., Kretzer, J., Rankin, J., Reis, L.M., Semina, E.V., Reuter, M.S., Scherer, S.W., Iascone, M., Weis, D., Fagerberg, C.R., Brasch-Andersen, C., Hansen, L.K., Kuechler, A., Noble, N., Gardham, A., Tenney, J., Rathore, G., Beck-Woedl, S., Haack, T.B., Pavlidou, D.C., Atallah, I., Vodopiutz, J., Janecke, A.R., Hsieh, T.C., Lesmann, H., Klinkhammer, H., Krawitz, P.M., Lemke, J.R., Jamra, R.A., Nieto, M., Tümer, Z., Platzer, K.

المصدر: European journal of human genetics, vol. 31, no. 11, pp. 1251-1260

مصطلحات موضوعية: Adult, Animals, Humans, Mice, Heterozygote, Homeodomain Proteins/genetics, Intellectual Disability/genetics, Intellectual Disability/diagnosis, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/pathology, Phenotype, Repressor Proteins/genetics, Seizures, Transcription Factors/genetics, Transcription Factors/metabolism

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37644171; info:eu-repo/semantics/altIdentifier/eissn/1476-5438; https://serval.unil.ch/notice/serval:BIB_483D54F3B66FTest; urn:issn:1018-4813

الإتاحة: https://doi.org/10.1038/s41431-023-01445-2Test
https://serval.unil.ch/notice/serval:BIB_483D54F3B66FTest

المؤلفون: Kumble, S., Levy, A.M., Punetha, J., Gao, H., Ah Mew, N., Anyane-Yeboa, K., Benke, P.J., Berger, S.M., Bjerglund, L., Campos-Xavier, B., Ciliberto, M., Cohen, J.S., Comi, A.M., Curry, C., Damaj, L., Denommé-Pichon, A.S., Emrick, L., Faivre, L., Fasano, M.B., Fiévet, A., Finkel, R.S., García-Miñaúr, S., Gerard, A., Gomez-Puertas, P., Guillen Sacoto, M.J., Hoffman, T.L., Howard, L., Iglesias, A.D., Izumi, K., Larson, A., Leiber, A., Lozano, R., Marcos-Alcalde, I., Mintz, C.S., Mullegama, S.V., Møller, R.S., Odent, S., Oppermann, H., Ostergaard, E., Pacio-Míguez, M., Palomares-Bralo, M., Parikh, S., Paulson, A.M., Platzer, K., Posey, J.E., Potocki, L., Revah-Politi, A., Rio, M., Ritter, A.L., Robinson, S., Rosenfeld, J.A., Santos-Simarro, F., Sousa, S.B., Wéber, M., Xie, Y., Chung, W.K., Brown, N.J., Tümer, Z.

المساهمون: Undiagnosed Diseases Network

المصدر: Human mutation, vol. 43, no. 2, pp. 266-282

مصطلحات موضوعية: Autism Spectrum Disorder/genetics, Dwarfism, Humans, Intellectual Disability/genetics, Muscle Hypotonia, Neurodevelopmental Disorders/genetics, Scoliosis, Seizures, Weight Gain, QRICH1, hypotonia, intellectual disability, short stature, variable expressivity, variant

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34859529; info:eu-repo/semantics/altIdentifier/eissn/1098-1004; https://serval.unil.ch/notice/serval:BIB_4A256FE26284Test; urn:issn:1059-7794

الإتاحة: https://doi.org/10.1002/humu.24308Test
https://serval.unil.ch/notice/serval:BIB_4A256FE26284Test

المؤلفون: Verheije, R., Kupchik, G.S., Isidor, B., Kroes, H.Y., Lynch, S.A., Hawkes, L., Hempel, M., Gelb, B.D., Ghoumid, J., D’Amours, G., Chandler, K., Dubourg, C., Loddo, S., Tümer, Z., Shaw-Smith, C., Nizon, M., Shevell, M., Van Hoof, E., Anyane-Yeboa, K., Cerbone, G., Clayton-Smith, J., Cogné, B., Corre, P., Corveleyn, A., De Borre, M., Hjortshøj, T.D., Fradin, M., Gewillig, M., Goldmuntz, E., Hens, G., Lemyre, E., Journel, H., Kini, U., Kortüm, F., Le Caignec, C., Novelli, A., Odent, S., Petit, F., Revah-Politi, A., Stong, N., Strom, T.M., van Binsbergen, E., DDD Study, Devriendt, K., Breckpot, J.

المصدر: Verheije, R, Kupchik, G S, Isidor, B, Kroes, H Y, Lynch, S A, Hawkes, L, Hempel, M, Gelb, B D, Ghoumid, J, D’amours, G, Chandler, K, Dubourg, C, Loddo, S, Tümer, Z, Shaw-smith, C, Nizon, M, Shevell, M, Van Hoof, E, Anyane-yeboa, K, Cerbone, G, Clayton-smith, J, Cogné, B, Corre, P, Corveleyn, A, De Borre, M, Hjortshøj, T D, Fradin, M, Gewillig, M, Goldmuntz, E, Hens, G, Lemyre, E, Journel, H, Kini, U, Kortüm, F, Le Caignec, C, Novelli, A, Odent, S, Petit, F, Revah-politi, A, Stong, N, Strom, T M, Van Binsbergen, E, Devriendt, K & Breckpot, J 2019, ' Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability ', European Journal of Human Genetics, vol. 27, no. 2, pp. 278-290 . https://doi.org/10.1038/s41431-018-0281-5Test
European Journal of Human Genetics, 27(2), 278. Nature Publishing Group
Eur. J. Hum. Genet. 27, 278-290 (2019)

مصطلحات موضوعية: Male, Loss of Function Mutation, Intellectual disability, Genetics(clinical), Non-U.S. Gov't, Child, Genetics (clinical), Heart Defects, Genetics, 0303 health sciences, Congenital/genetics, Research Support, Non-U.S. Gov't, 030305 genetics & heredity, Syndrome, Phenotype, Heart Defects, Congenital/genetics, Cleft Palate, Child, Preschool, Female, Haploinsufficiency, Heart Defects, Congenital, Heterozygote, Adolescent, Transcription Factors/genetics, Locus (genetics), Research Support, Article, N.I.H, 03 medical and health sciences, Young Adult, Research Support, N.I.H., Extramural, Cleft Palate/genetics, Intellectual Disability, medicine, Journal Article, Humans, Preschool, Gene, Loss function, Homeodomain Proteins, business.industry, Chromosome, Extramural, Heterozygote advantage, medicine.disease, Intellectual Disability/genetics, Homeodomain Proteins/genetics, business, Transcription Factors

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; text/plain; application/pdf; image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2579d855b96e7c1ca9b154f65da5fdceTest
https://europepmc.org/articles/PMC6336847Test/

المؤلفون: Soellner, L., Begemann, M., Mackay, D. J. G., Grønskov, K., Tümer, Z., Maher, E. R., Temple, I. K., Monk, D., RICCIO, Andrea, Linglart, A., Netchine, I., Eggermann, T.

المساهمون: Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository, Soellner, L., Begemann, M., Mackay, D. J. G., Grønskov, K., Tümer, Z., Maher, E. R., Temple, I. K., Monk, D., Riccio, Andrea, Linglart, A., Netchine, I., Eggermann, T.

المصدر: Clinical genetics 91 (2016): 3–13. doi:10.1111/cge.12827
info:cnr-pdr/source/autori:Soellner L, Begemann M, Mackay DJ, Grønskov K, Tümer Z, Maher ER, Temple IK, Monk D, Riccio A, Linglart A, Netchine I, Eggermann T./titolo:Recent Advances in Imprinting Disorders./doi:10.1111%2Fcge.12827/rivista:Clinical genetics/anno:2016/pagina_da:3/pagina_a:13/intervallo_pagine:3–13/volume:91

مصطلحات موضوعية: imprinting disorder, Genomic Imprinting, epigenetic regulation, uniparental disomy, DNA Copy Number Variations, Genetic Loci, Mutation, Genetic Diseases, Inborn, Humans, Genetic Counseling, Genetic Testing, Epigenesis, Genetic

وصف الملف: application/pdf; text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::491f24a99ddfbe37cc59c46f7157108dTest

المؤلفون: Soellner, L, Begemann, M, Mackay, DJG, Grønskov, K, Tümer, Z, Maher, ER, Temple, IK, Monk, D, Riccio, A, Linglart, A, Netchine, I, Eggermann, T

مصطلحات موضوعية: epigenetic regulation, imprinting disorder, uniparental disomy, DNA Copy Number Variations, Epigenesis, Genetic, Genetic Counseling, Genetic Diseases, Inborn, Genetic Loci, Genetic Testing, Genomic Imprinting, Humans, Mutation

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/256980Test

الإتاحة: https://doi.org/10.17863/CAM.912Test
https://www.repository.cam.ac.uk/handle/1810/256980Test

المؤلفون: Boyle, M I, Jespersgaard, C, Nazaryan, L, Bisgaard, A-M, Tümer, Z

المصدر: Boyle , M I , Jespersgaard , C , Nazaryan , L , Bisgaard , A-M & Tümer , Z 2017 , ' A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome ' , Clinical Genetics , vol. 91 , no. 4 , pp. 647-649 . https://doi.org/10.1111/cge.12863Test

مصطلحات موضوعية: Adult, Codon, Nonsense/genetics, De Lange Syndrome/diagnosis, Female, Humans, Nuclear Proteins/genetics, Penetrance, Phosphoproteins/genetics, Polymorphism, Single Nucleotide, Sequence Deletion/genetics

الإتاحة: https://doi.org/10.1111/cge.12863Test
https://curis.ku.dk/portal/da/publications/a-novel-rad21-variant-associated-with-intrafamilial-phenotypic-variation-in-cornelia-de-lange-syndromeTest(269e5944-cd34-4e2a-a4cf-7d39fecdf81f).html

المؤلفون: Boyle, M I, Jespersgaard, C, Brøndum-Nielsen, K, Bisgaard, A-M, Tümer, Z

المصدر: Boyle , M I , Jespersgaard , C , Brøndum-Nielsen , K , Bisgaard , A-M & Tümer , Z 2015 , ' Cornelia de Lange syndrome ' , Clinical Genetics , vol. 88 , no. 1 , 12499 , pp. 1-12 . https://doi.org/10.1111/cge.12499Test

مصطلحات موضوعية: Cell Cycle Proteins, Child, Preschool, Chondroitin Sulfate Proteoglycans, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Female, Histone Deacetylases, Humans, Male, Mutation, Nuclear Proteins, Phenotype, Phosphoproteins, Proteins, Repressor Proteins

الإتاحة: https://doi.org/10.1111/cge.12499Test
https://curis.ku.dk/portal/da/publications/cornelia-de-lange-syndromeTest(d73beda7-39f8-479f-8593-df8f704f20f2).html

المؤلفون: Møller, R S, Jensen, L R, Maas, S M, Filmus, J, Capurro, M, Hansen, Claus, Marcelis, C L M, Ravn, K, Andrieux, J, Mathieu, M, Kirchhoff, M, Rødningen, O K, de Leeuw, N, Yntema, H G, Froyen, G, Vandewalle, J, Ballon, K, Klopocki, E, Joss, S, Tolmie, J, Knegt, A C, Lund, A M, Hjalgrim, H, Kuss, A W, Tommerup, N, Ullmann, R, de Brouwer, A P M, Strømme, P, Kjaergaard, S, Tümer, Z, Kleefstra, T

المصدر: Møller , R S , Jensen , L R , Maas , S M , Filmus , J , Capurro , M , Hansen , C , Marcelis , C L M , Ravn , K , Andrieux , J , Mathieu , M , Kirchhoff , M , Rødningen , O K , de Leeuw , N , Yntema , H G , Froyen , G , Vandewalle , J , Ballon , K , Klopocki , E , Joss , S , Tolmie , J , Knegt , A C , Lund , A M , Hjalgrim ....

مصطلحات موضوعية: Abnormalities, Multiple, Adult, Animals, Blepharoptosis, Body Height, Child, Chromosome Duplication, Cleft Palate, Female, Fingers, Genetic Diseases, X-Linked, Humans, Intellectual Disability, Karyotyping, Male, Mice, Transgenic, Microcephaly, Syndrome

الإتاحة: https://doi.org/10.1007/s00439-013-1403-3Test
https://curis.ku.dk/portal/da/publications/xlinked-congenital-ptosis-and-associated-intellectual-disability-short-stature-microcephaly-cleft-palate-digital-and-genital-abnormalities-define-novel-xq25q26-duplication-syndromeTest(fa67de5c-3b54-44db-ae23-7c7bdeb5d75c).html
http://download.springer.com/static/pdf/998/art%253A10.1007%252Fs00439-013-1403-3.pdf?auth66=1406711234_710d6259d6ba2d1d9b752d059840b3f2&ext=.pdfTest

المؤلفون: Buysse, K, Crepel, An, Menten, B, Pattyn, F, Antonacci, F, Veltman, J A, Larsen, L A, Tümer, Z, de Klein, A, van de Laar, I, Devriendt, Koenraad, Mortier, G, Speleman, F

مصطلحات موضوعية: Chromosome Breakage, Chromosome Mapping, Chromosomes, Human, Pair 5, Gene Deletion, Gene Duplication, Genomic Instability, Humans, Translocation, Genetic

العلاقة: Journal of Medical Genetics vol:45 issue:10 pages:672-678; https://lirias.kuleuven.be/handle/123456789/235924Test; http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=18628311Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/235924Test
http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=18628311Test

المؤلفون: Kaalund, S S, Møller, R S, Tészás, A, Miranda, M, Kosztolanyi, G, Ullmann, R, Tommerup, N, Tümer, Z

المصدر: Kaalund , S S , Møller , R S , Tészás , A , Miranda , M , Kosztolanyi , G , Ullmann , R , Tommerup , N & Tümer , Z 2008 , ' Investigation of 4q-deletion in two unrelated patients using array CGH ' , American Journal of Medical Genetics Part A , vol. 146A , no. 18 , pp. 2431-2434 . https://doi.org/10.1002/ajmg.a.32458Test

مصطلحات موضوعية: Abnormalities, Multiple, Child, Preschool, Chromosome Banding, Chromosome Deletion, Chromosomes, Human, Pair 20, Pair 4, Developmental Disabilities, Female, Gene Duplication, Humans, Male, Oligonucleotide Array Sequence Analysis, Syndrome

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/8f066510-f406-43a9-b2fa-162dffc21d48Test

الإتاحة: https://doi.org/10.1002/ajmg.a.32458Test
https://portal.findresearcher.sdu.dk/da/publications/8f066510-f406-43a9-b2fa-162dffc21d48Test