المؤلفون: Zito, Antonino, Roberts, Amy, Visconti, Alessia, Rossi, Niccolo, Andres Ejarque, Rosa, Nardone, Stefano, El-Sayed Moustafa, Julia, Falchi, Mario, Small, Kerrin

المصدر: Zito , A , Roberts , A , Visconti , A , Rossi , N , Andres Ejarque , R , Nardone , S , El-Sayed Moustafa , J , Falchi , M & Small , K 2023 , ' Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable ' , PLoS Genetics , vol. 19 , no. 2 , e1010556 . https://doi.org/10.1371/journal.pgen.1010556Test

مصطلحات موضوعية: Humans, Female, X Chromosome Inactivation/genetics, Chromosomes, Human, X/genetics, Genes, X-Linked/genetics, Twins, Monozygotic/genetics, Phenotype

الإتاحة: https://doi.org/10.1371/journal.pgen.1010556Test
https://kclpure.kcl.ac.uk/portal/en/publications/40f68ba3-48a2-432c-9406-37dbd50c275eTest
http://www.scopus.com/inward/record.url?scp=85148396134&partnerID=8YFLogxKTest

المصدر: Deciphering Developmental Disorders Study 2021 , ' The contribution of X-linked coding variation to severe developmental disorders ' , Nature Communications , vol. 12 , no. 1 , 627 . https://doi.org/10.1038/s41467-020-20852-3Test

مصطلحات موضوعية: Chromosomes, Human, X/genetics, Developmental Disabilities/genetics, Female, Genes, Recessive, X-Linked, Genetic Diseases, X-Linked/genetics, Genetic Variation, Humans, Inheritance Patterns/genetics, Male, Multifactorial Inheritance/genetics, Mutation/genetics, Phenotype, Sex Characteristics

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41467-020-20852-3Test
https://research.manchester.ac.uk/en/publications/f6570c6e-13b0-40e2-9448-28afa04b8f48Test
https://pure.manchester.ac.uk/ws/files/195419328/s41467_020_20852_3.pdfTest

المؤلفون: Wyatt, R. C., Olek, S., De Franco, E., Samans, B., Patel, K., Houghton, J., Walter, S., Schulze, J., Bacchetta, R., Hattersley, A. T., Flanagan, S. E., Johnson, M. B.

مصطلحات موضوعية: Humans, T-Lymphocytes, Regulatory, Diarrhea, Genetic Diseases, X-Linked/genetics, Diabetes Mellitus, Forkhead Transcription Factors/genetics, Mutation, Epigenetics, Foxp3, IPEX syndrome, Regulatory T cells

العلاقة: https://doi.org/10.1007/s10875-022-01428-wTest; J Clin Immunol. 2023 Apr;43(3):662-669. doi:10.1007/s10875-022-01428-w. Epub 2023 Jan 5.; Journal of clinical immunology; PMC9957900; https://hdl.handle.net/11287/622871Test

الإتاحة: https://doi.org/10.1007/s10875-022-01428-wTest
https://hdl.handle.net/11287/622871Test

المؤلفون: Smeland, Marie F, McClenaghan, Conor, Roessler, Helen I, Savelberg, Sanne, Hansen, Geir Åsmund Myge, Hjellnes, Helene, Arntzen, Kjell Arne, Müller, Kai Ivar, Dybesland, Andreas Rosenberger, Harter, Theresa, Sala-Rabanal, Monica, Emfinger, Chris H, Huang, Yan, Singareddy, Soma S, Gunn, Jamie, Wozniak, David F, Kovacs, Attila, Massink, Maarten, Tessadori, Federico, Kamel, Sarah M, Bakkers, Jeroen, Remedi, Maria S, Van Ghelue, Marijke, Nichols, Colin G, van Haaften, Gijs

المساهمون: Genetica Groep Van Haaften, Genetica Sectie Genoomdiagnostiek, Child Health, Medische Fysiologie, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Cancer

مصطلحات موضوعية: Adenosine Triphosphate/metabolism, Adolescent, Adult, Amino Acid Sequence, Animals, Cardiomegaly/genetics, Cell Line, Channelopathies/metabolism, Child, Disease Models, Animal, Facies, Female, Genetic Diseases, X-Linked/genetics, Genetic Predisposition to Disease/genetics, Heart, Heart Diseases/genetics, Homozygote, Humans, Hypertrichosis/genetics, Intellectual Disability/metabolism, Male, Mediator Complex/metabolism, Membrane Proteins/metabolism, Mice, Muscular Diseases/genetics, Mutation, Neurodevelopmental Disorders/genetics, Osteochondrodysplasias/genetics

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/439266Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/439266Test

المساهمون: College of Medicine, Dept. of Pharmacology, C.�륪. Oh, S. Chun, J.�륟. Lee, J.S. Lee, S. Park, H.Y. Gee, S.W. Kim, Gee, Heon Yung

مصطلحات موضوعية: Adrenal Insufficiency/diagnosis, Adrenal Insufficiency/genetics, Adult, Age of Onset, Alleles, Amino Acid Substitution, Biomarkers, DAX-1 Orphan Nuclear Receptor/chemistry, DAX-1 Orphan Nuclear Receptor/genetics, Genetic Association Studies, Genetic Diseases, X-Linked/diagnosis, X-Linked/genetics, Genotype, Humans, Male, Models, Molecular, Mutation, Missense, Pedigree, Protein Conformation, Whole Exome Sequencing

العلاقة: CLINICAL GENETICS; J00574; OAK-2017-07867; https://ir.ymlib.yonsei.ac.kr/handle/22282913/161760Test; T201705831; CLINICAL GENETICS, Vol.92(3) : 344-346, 2017

الإتاحة: https://doi.org/10.1111/cge.12966Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/161760Test

المؤلفون: Zaid Afawi, Shekeeb S. Mohammad, Geoffrey Wallace, Ayelet Zerem, Amy L Schneider, Kyra E. Stuurman, Deepak Gill, Alison M. Muir, Russell C. Dale, Gali Heimer, Martino Montomoli, Elena Gardella, Emmanuelle Ranza, Simone Mandelstam, Peter Procopis, Øyvind L. Busk, Christian Korff, Arjan Bouman, Boudewijn Gunning, Connie T.R.M. Stumpel, Yunus Balcik, Christa de Geus, Philipp S. Reif, Yue-Hua Zhang, Sameer M. Zuberi, Volodymyr Kharytonov, Sébastien Küry, Patrick Edery, Sebastien Moutton, Trine Bjørg Hammer, Hannah Stamberger, Joseph D. Symonds, Gaetan Lesca, Samuel F. Berkovic, Massimiliano Rossi, Danique R.M. Vlaskamp, Eric W. Klee, Mark T Mackay, Felix Rosenow, Erica L. Macke, Chirag Patel, Jacob Bie Granild-Jensen, Helenius J. Schelhaas, Danielle M. Andrade, Lynette G. Sadleir, Iris M de Lange, Roseline Caumes, Eva Morava, Frédéric Tran Mau-Them, Anita Cairns, Keren Yosovich, Jing Zhang, Bruria Ben Zeev, Nicolas Chatron, Dorit Lev, Laura Reed, Pauline Monin, Eva H. Brilstra, Birgitte Bertelsen, Georgie Hollingsworth, Nienke E. Verbeek, Heather C Mefford, Rikke S. Møller, Johan R. Helle, Christina Fenger, Meriel McEntagart, Thomas Smol, Mark F. Bennett, Yuri A. Zarate, Renzo Guerrini, Elena Parrini, Candace T. Myers, Judith S. Verhoeven, Bertrand Isidor, Ruth Shalev, David A. Koolen, Ingrid E. Scheffer, Bobby P. C. Koeleman, Lauren Gunderson, Michael S. Hildebrand, Tara Sadoway, Richard J. Leventer, Sanjay M. Sisodiya, Krati Shah, Edith P. Almanza Fuerte

المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Clinical Genetics

المصدر: Genetics in Medicine, 23(2), 363-373. Nature Publishing Group
Genetics in Medicine, 23, 2, pp. 363-373
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in Medicine, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9Test
Genetics in medicine
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y-H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9Test
Genetics in Medicine, Vol. 23, No 2 (2021) pp. 363-373
Genetics in Medicine, 23(2), 363-373. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 363-373

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, INTELLECTUAL DISABILITY, Autism Spectrum Disorder, Encephalopathy, Nerve Tissue Proteins, ILAE COMMISSION, MOSAICISM, Epilepsy/genetics, CLASSIFICATION, Epilepsy, Brain Diseases/genetics, Genes, X-Linked, Seizures, Intellectual disability, Genotype, medicine, Humans, developmental and epileptic encephalopathy, MYOCLONIA, Atonic seizure, Genetics (clinical), Brain Diseases, ddc:618, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], KIAA2022, business.industry, MUTATIONS, medicine.disease, Phenotype, Autism Spectrum Disorder/genetics, Genes, X-Linked/genetics, Autism spectrum disorder, intellectual disability, NEXMIF, Autism, epilepsy, Female, INACTIVATION, Human medicine, Seizures/genetics, business, POSITION PAPER

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae8c8c6faa9e2b5a65e17855559602f1Test
https://doi.org/10.1038/s41436-020-00988-9Test

المؤلفون: Renella, R., Gagne, K., Beauchamp, E., Fogel, J., Perlov, A., Sola, M., Schlaeger, T., Hofmann, I., Shimamura, A., Ebert, B.L., Schmitz-Abe, K., Markianos, K., Murphy, K., Sun, L., Rockowitz, S., Sliz, P., Campagna, D.R., Springer, T.A., Bahl, C., Agarwal, S., Fleming, M.D., Williams, D.A.

المصدر: American journal of hematology, vol. 97, no. 1, pp. 18-29

مصطلحات موضوعية: Cell Line, Cells, Cultured, Genetic Diseases, X-Linked/complications, X-Linked/genetics, Germ-Line Mutation, Humans, Infant, Newborn, Male, Myelodysplastic Syndromes/complications, Myelodysplastic Syndromes/genetics, Neutropenia/complications, Neutropenia/congenital, Neutropenia/genetics, Septins/genetics, Tetraploidy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34677878; info:eu-repo/semantics/altIdentifier/eissn/1096-8652; https://serval.unil.ch/notice/serval:BIB_8C68E388AD85Test; https://doi.org/10.1002/ajh.26382Test; urn:issn:0361-8609

الإتاحة: https://doi.org/10.1002/ajh.26382Test
https://serval.unil.ch/notice/serval:BIB_8C68E388AD85Test

المؤلفون: Fernandes-Pires, G., Braissant, O.

المصدر: Molecular genetics and metabolism, vol. 135, no. 1, pp. 15-26

مصطلحات موضوعية: Brain/metabolism, Brain Diseases, Metabolic, Inborn/drug therapy, Brain Diseases, Metabolic, Inborn/genetics, Creatine, Guanidinoacetate N-Methyltransferase, Humans, Mental Retardation, X-Linked/drug therapy, Mental Retardation, X-Linked/genetics, Syndrome, Creatine deficiency syndromes, Creatine treatment, GAMT, AGAT, Gene therapy, SLC6A8

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1900::dc756bbdb5c33c6441791bebdb51ed74Test
https://serval.unil.ch/notice/serval:BIB_68B2B92FD1A2Test

المؤلفون: Dinet, V., Ciccotosto, G.D., Delaunay, K., Borras, C., Ranchon-Cole, I., Kostic, C., Savoldelli, M., El Sanharawi, M., Jonet, L., Pirou, C., An, N., Abitbol, M., Arsenijevic, Y., Behar-Cohen, F., Cappai, R., Mascarelli, F.

المصدر: Molecular brain, vol. 9, no. 1, pp. 64

مصطلحات موضوعية: Aging/pathology, Amacrine Cells/metabolism, Amyloid beta-Protein Precursor/chemistry, Amyloid beta-Protein Precursor/deficiency, Amyloid beta-Protein Precursor/genetics, Amyloid beta-Protein Precursor/metabolism, Animals, Newborn, Cell Differentiation, Complement System Proteins/metabolism, Dendrites/metabolism, Eye Diseases, Hereditary/genetics, Hereditary/pathology, Hereditary/physiopathology, Gene Deletion, Genetic Diseases, X-Linked/genetics, X-Linked/pathology, X-Linked/physiopathology, Mice, Inbred C57BL, Knockout, Myopia/genetics, Myopia/pathology, Myopia/physiopathology, Neurogenesis, Night Blindness/genetics, Night Blindness/pathology, Night Blindness/physiopathology

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27267879; info:eu-repo/semantics/altIdentifier/eissn/1756-6606; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_8DB27D0809EA7; https://serval.unil.ch/notice/serval:BIB_8DB27D0809EATest; urn:issn:1756-6606; https://serval.unil.ch/resource/serval:BIB_8DB27D0809EA.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_8DB27D0809EA7Test

الإتاحة: https://doi.org/10.1186/s13041-016-0245-zTest
https://serval.unil.ch/notice/serval:BIB_8DB27D0809EATest
https://serval.unil.ch/resource/serval:BIB_8DB27D0809EA.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_8DB27D0809EA7Test

المساهمون: Eujin Park, Hye Jin Chang, Jae Il Shin, Beom Jin Lim, Hyeon Joo Jeong, Kyoung Bun Lee, Kyoung Chul Moon, Hee Gyung Kang, Il-Soo Ha, Hae Il Cheong, Shin, Jae Il, Lim, Beom Jin, Jeong, Hyeon Joo

مصطلحات موضوعية: Child, Preschool, Diabetes Mellitus, Type 1/congenital, Type 1/diagnosis, Type 1/genetics, Diarrhea/diagnosis, Diarrhea/genetics, Forkhead Transcription Factors/genetics, Genetic Diseases, X-Linked/diagnosis, X-Linked/genetics, Glomerulonephritis, Membranous/diagnosis, Membranous/genetics, Humans, Immune System Diseases/congenital, Immune System Diseases/diagnosis, Immune System Diseases/genetics, Infant, Newborn, Kidney/pathology, Male, Mutation, Nephrosis, Lipoid/diagnosis, Lipoid/genetics, Siblings, FOXP3, IPEX syndrome

العلاقة: PEDIATRICS INTERNATIONAL; J02497; OAK-2015-02468; https://ir.ymlib.yonsei.ac.kr/handle/22282913/141628Test; T201504083; PEDIATRICS INTERNATIONAL, Vol.57(2) : 59-61, 2015

الإتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/141628Test