المؤلفون: Levy M. A., Relator R., McConkey H., Pranckeviciene E., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Palomares Bralo M., Cappuccio G., Ciolfi A., Clarke A., DuPont B. R., Elting M. W., Faivre L., Fee T., Ferilli M., Fletcher R. S., Cherick F., Foroutan A., Friez M. J., Gervasini C., Haghshenas S., Hilton B. A., Jenkins Z., Kaur S., Lewis S., Louie R. J., Maitz S., Milani D., Morgan A. T., Oegema R., Ostergaard E., Pallares N. R., Piccione M., Plomp A. S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G. W. E., Santos-Simarro F., Schijns J., Squeo G. M., John M. S., Thauvin-Robinet C., Traficante G., van der Sluijs P. J., Vergano S. A., Vos N., Walden K. K., Azmanov D., Balci T. B., Banka S., Gecz J., Henneman P., Lee J. A., Mannens M. M. A. M., Roscioli T., Siu V., Amor D. J., Baynam G., Bend E. G., Boycott K., Brunetti-Pierri N., Campeau P. M., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J. A., Fleming M. D., Genevieve D., Heron D., Husson T., Kernohan K. D., McNeill A., Menke L. A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S. A., Stevenson R. E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M. L., Sadikovic B.

المساهمون: Levy M.A., Relator R., McConkey H., Pranckeviciene E., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Palomares Bralo M., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Ferilli M., Fletcher R.S., Cherick F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Ostergaard E., Pallares N.R., Piccione M., Plomp A.S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., John M.S., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T.B., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Heron D., Husson T., Kernohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.

مصطلحات موضوعية: DNA methylation, clinical diagnostics, episignatures, neurodevelopmental syndromes

Relation: info:eu-repo/semantics/altIdentifier/pmid/35904121; info:eu-repo/semantics/altIdentifier/wos/WOS:000842416800001; volume:43; issue:11; firstpage:1609; lastpage:1628; numberofpages:20; journal:HUMAN MUTATION; https://hdl.handle.net/10447/579330

الاتاحة: https://hdl.handle.net/10447/579330
https://doi.org/10.1002/humu.24446

المؤلفون: Levy M. A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M. P., Cappuccio G., Ciolfi A., Clarke A., DuPont B. R., Elting M. W., Faivre L., Fee T., Fletcher R. S., Cherik F., Foroutan A., Friez M. J., Gervasini C., Haghshenas S., Hilton B. A., Jenkins Z., Kaur S., Lewis S., Louie R. J., Maitz S., Milani D., Morgan A. T., Oegema R., Østergaard E., Pallares N. R., Piccione M., Pizzi S., Plomp A. S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G. W. E., Santos-Simarro F., Schijns J., Squeo G. M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P. J., Vergano S. A., Vos N., Walden K. K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J. A., Mannens M. M. A. M., Roscioli T., Siu V., Amor D. J., Baynam G., Bend E. G., Boycott K., Brunetti-Pierri N., Campeau P. M., Christodoulou J., Dyment D., Esber N., Fahrner J. A., Fleming M. D., Genevieve D., Kerrnohan K. D., McNeill A., Menke L. A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S. A., Stevenson R. E., Vitobello A., Tartaglia M., Alders M., Tedder M. L., Sadikovic B.

المساهمون: Levy M.A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M.P., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Fletcher R.S., Cherik F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Østergaard E., Pallares N.R., Piccione M., Pizzi S., Plomp A.S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Kerrnohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.

مصطلحات موضوعية: Clinical diagnostics, DNA methylation, Epigenetics, Episignatures, Neurodevelopmental disorders

Relation: info:eu-repo/semantics/altIdentifier/pmid/35047860; info:eu-repo/semantics/altIdentifier/wos/WOS:000787652900021; volume:3; issue:1; firstpage:100075; numberofpages:18; journal:HGG ADVANCES; https://hdl.handle.net/10447/620282

الاتاحة: https://hdl.handle.net/10447/620282
https://doi.org/10.1016/j.xhgg.2021.100075

المؤلفون: Pizzo L., Jensen M., Polyak A., Rosenfeld J. A., Mannik K., Krishnan A., McCready E., Pichon O., Le Caignec C., Van Dijck A., Pope K., Voorhoeve E., Yoon J., Stankiewicz P., Cheung S. W., Pazuchanics D., Huber E., Kumar V., Kember R. L., Mari F., Curro A., Castiglia L., Galesi O., Avola E., Mattina T., Fichera M., Mandara L., Vincent M., Nizon M., Mercier S., Beneteau C., Blesson S., Martin-Coignard D., Mosca-Boidron A. -L., Caberg J. -H., Bucan M., Zeesman S., Nowaczyk M. J. M., Lefebvre M., Faivre L., Callier P., Skinner C., Keren B., Perrine C., Prontera P., Marle N., Renieri A., Reymond A., Kooy R. F., Isidor B., Schwartz C., Romano C., Sistermans E., Amor D. J., Andrieux J., Girirajan S.

المساهمون: Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., Mccready, E., Pichon, O., Le Caignec, C., Van Dijck, A., Pope, K., Voorhoeve, E., Yoon, J., Stankiewicz, P., Cheung, S. W., Pazuchanics, D., Huber, E., Kumar, V., Kember, R. L., Mari, F., Curro, A., Castiglia, L., Galesi, O., Avola, E., Mattina, T., Fichera, M., Mandara, L., Vincent, M., Nizon, M., Mercier, S., Beneteau, C., Blesson, S., Martin-Coignard, D., Mosca-Boidron, A. -L., Caberg, J. -H., Bucan, M., Zeesman, S., Nowaczyk, M. J. M., Lefebvre, M., Faivre, L., Callier, P., Skinner, C., Keren, B., Perrine, C., Prontera, P., Marle, N., Renieri, A., Reymond, A., Kooy, R. F., Isidor, B., Schwartz, C., Romano, C., Sistermans, E., Amor, D. J., Andrieux, J., Girirajan, S.

مصطلحات موضوعية: 16p11.2 deletion, autism, CNV, modifier, phenotypic variability, Autistic Disorder, Cell Adhesion Molecules, Neuronal, Chromosomes, Human, Pair 16, Cognition, DNA Copy Number Variation, Female, Gene Expression Regulation, Genetic Background, Male, Methyltransferase, Nerve Tissue Protein, Parent, Pedigree, Phenotype, Protein, Sequence Deletion, Sibling, Genetic Carrier Screening

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30190612; info:eu-repo/semantics/altIdentifier/wos/WOS:000463167300008; volume:21; issue:4; firstpage:816; lastpage:825; numberofpages:10; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11365/1078706; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053071043; http://www.nature.com/gim/index.html

الاتاحة: http://hdl.handle.net/11365/1078706
https://doi.org/10.1038/s41436-018-0266-3
http://www.nature.com/gim/index.html

المؤلفون: Catford, S R, Lewis, S, Halliday, J, Kennedy, J, O’Bryan, M K, McBain, J, Amor, D J, Rombauts, L, Saffery, R, Hart, R J, McLachlan, R I

المساهمون: National Health and Medical Research Council, Murdoch Children’s Research Institute, Monash University, NHMRC, Senior and Principal Research Fellows

المصدر: Human Reproduction Open ; volume 2020, issue 4 ; ISSN 2399-3529

الاتاحة: http://dx.doi.org/10.1093/hropen/hoaa042
http://academic.oup.com/hropen/article-pdf/2020/4/hoaa042/33833267/hoaa042.pdf

المؤلفون: MacLennan, A. H. (Alastair H.), Lewis, S. (Sara), Moreno-De-Luca, A. (Andres), Fahey, M. (Michael), Leventer, R. J. (Richard J.), McIntyre, S. (Sarah), Ben-Pazi, H. (Hilla), Corbett, M. (Mark), Wang, X. (Xiaoyang), Baynam, G. (Gareth), Fehlings, D. (Darcy), Kurian, M. A. (Manju A.), Zhu, C. (Changlian), Himmelmann, K. (Kate), Smithers-Sheedy, H. (Hayley), Wilson, Y. (Yana), Ocaña, C. S. (Carlos Santos), van Eyk, C. (Clare), Badawi, N. (Nadia), Wintle, R. F. (Richard F.), Jacobsson, B. (Bo), Amor, D. J. (David J.), Mallard, C. (Carina), Pérez-Jurado, L. A. (Luis A.), Hallman, M. (Mikko), Rosenbaum, P. J. (Peter J.), Kruer, M. C. (Michael C.), Gecz, J. (Jozef)

مصطلحات موضوعية: causation, cerebral palsy, clinical definition, genomics

وصف الملف: application/pdf

الاتاحة: http://urn.fi/urn:nbn:fi-fe2019101032124

المؤلفون: Stephenson S. E. M., Costain G., Blok L. E. R., Silk M. A., Nguyen T. B., Dong X., Alhuzaimi D. E., Dowling J. J., Walker S., Amburgey K., Hayeems R. Z., Rodan L. H., Schwartz M. A., Picker J., Lynch S. A., Gupta A., Rasmussen K. J., Schimmenti L. A., Klee E. W., Niu Z., Agre K. E., Chilton I., Chung W. K., Revah-Politi A., Au P. Y. B., Griffith C., Racobaldo M., Raas-Rothschild A., Ben Zeev B., Barel O., Moutton S., Morice-Picard F., Carmignac V., Cornaton J., Marle N., Devinsky O., Stimach C., Wechsler S. B., Hainline B. E., Sapp K., Willems M., Bruel A. -L., Dias K. -R., Evans C. -A., Roscioli T., Sachdev R., Temple S. E. L., Zhu Y., Baker J. J., Scheffer I. E., Gardiner F. J., Schneider A. L., Muir A. M., Mefford H. C., Crunk A., Heise E. M., Millan F., Monaghan K. G., Person R., Rhodes L., Richards S., Wentzensen I. M., Cogne B., Isidor B., Nizon M., Vincent M., Besnard T., Piton A., Marcelis C., Kato K., Koyama N., Ogi T., Goh E. S. -Y., Richmond C., Amor D. J., Boyce J. O., Morgan A. T., Hildebrand M. S., Kaspi A., Bahlo M., Fridriksdottir R., Katrinardottir H., Sulem P., Stefansson K., Bjornsson H. T., Mandelstam S., Morleo M., Mariani M., Scala M., Accogli A., Torella A., Capra V., Wallis M., Jansen S., Weisfisz Q., de Haan H., Sadedin S., Lim S. C., White S. M., Ascher D. B., Schenck A., Lockhart P. J., Christodoulou J., Tan T. Y.

المساهمون: Stephenson, S. E. M., Costain, G., Blok, L. E. R., Silk, M. A., Nguyen, T. B., Dong, X., Alhuzaimi, D. E., Dowling, J. J., Walker, S., Amburgey, K., Hayeems, R. Z., Rodan, L. H., Schwartz, M. A., Picker, J., Lynch, S. A., Gupta, A., Rasmussen, K. J., Schimmenti, L. A., Klee, E. W., Niu, Z., Agre, K. E., Chilton, I., Chung, W. K., Revah-Politi, A., Au, P. Y. B., Griffith, C., Racobaldo, M., Raas-Rothschild, A., Ben Zeev, B., Barel, O., Moutton, S., Morice-Picard, F., Carmignac, V., Cornaton, J., Marle, N., Devinsky, O., Stimach, C., Wechsler, S. B., Hainline, B. E., Sapp, K., Willems, M., Bruel, A. -L., Dias, K. -R., Evans, C. -A., Roscioli, T., Sachdev, R., Temple, S. E. L., Zhu, Y., Baker, J. J., Scheffer, I. E., Gardiner, F. J., Schneider, A. L., Muir, A. M., Mefford, H. C., Crunk, A., Heise, E. M., Millan, F., Monaghan, K. G., Person, R., Rhodes, L., Richards, S., Wentzensen, I. M., Cogne, B., Isidor, B., Nizon, M., Vincent, M., Besnard, T., Piton, A., Marcelis, C., Kato, K., Koyama, N., Ogi, T., Goh, E. S. -Y., Richmond, C., Amor, D. J., Boyce, J. O., Morgan, A. T., Hildebrand, M. S., Kaspi, A., Bahlo, M., Fridriksdottir, R., Katrinardottir, H., Sulem, P., Stefansson, K., Bjornsson, H. T., Mandelstam, S., Morleo, M., Mariani, M., Scala, M., Accogli, A., Torella, A., Capra, V., Wallis, M., Jansen, S., Weisfisz, Q., de Haan, H., Sadedin, S., Lim, S. C., White, S. M., Ascher, D. B.

مصطلحات موضوعية: brain malformation, epilepsy, F-box protein, FBXW7, gastrointestinal issue, global developmental delay, hypotonia, intellectual disability, macrocephaly, Neurodevelopment

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000789105400006; volume:109; firstpage:601; lastpage:617; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11567/1119280; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127470624

الاتاحة: https://hdl.handle.net/11567/1119280
https://doi.org/10.1016/j.ajhg.2022.03.002

المؤلفون: Bancroft, E. K., Page, E. C., Castro, E., Lilja, H., Vickers, A., Sjoberg, D., Assel, M., Foster, C. S., Mitchell, G., Drew, K., Mæhle, L., Axcrona, K., Evans, D. G., Bulman, B., Eccles, D., McBride, D., van Asperen, C., Vasen, H., Kiemeney, L. A., Ringelberg, J., Cybulski, C., Wokolorczyk, D., Selkirk, C., Hulick, P. J., Bojesen, A., Skytte, A. B., Lam, J., Taylor, L., Oldenburg, R., Cremers, R., Verhaegh, G., van Zelst-Stams, W. A., Oosterwijk, J. C., Blanco, I., Salinas, M., Cook, J., Rosario, D. J., Buys, S., Conner, T., Ausems, M. G., Ong, K. R., Hoffman, J., Domchek, S., Powers, J., Teixeira, M. R., Maia, S., Foulkes, W. D., Taherian, N., Ruijs, M., Helderman-van den Enden, A. T., Izatt, L., Davidson, R., Adank, M. A., Walker, L., Schmutzler, R., Tucker, K., Kirk, J., Hodgson, S., Harris, M., Douglas, F., Lindeman, G. J., Zgajnar, J., Tischkowitz, M., Clowes, V. E., Susman, R., Ramón y Cajal, T., Patcher, N., Gadea, N., Spigelman, A., van Os, T., Liljegren, A., Side, L., Brewer, C., Brady, A. F., Donaldson, A., Stefansdottir, V., Friedman, E., Chen-Shtoyerman, R., Amor, D. J., Copakova, L., Barwell, Julian, Giri, V. N., Murthy, V., Nicolai, N., Teo, S. H., Greenhalgh, L., Strom, S., Henderson, A., McGrath, J., Gallagher, D., Aaronson, N., Ardern-Jones, A., Bangma, C., Dearnaley, D., Costello, P., Eyfjord, J., Rothwell, J., Falconer, A., Gronberg, H., Hamdy, F. C., Johannsson, O., Khoo, V., Kote-Jarai, Z., Lubinski, J., Axcrona, U., Melia, J., McKinley, J., Mitra, A. V., Moynihan, C., Rennert, G., Suri, M., Wilson, P., Killick, E., IMPACT Collaborators, Moss, S., Eeles, R. A.

مصطلحات موضوعية: BRCA1, BRCA2, Prostate cancer, Prostate-specific antigen, Targeted screening, Adult, Aged, Biopsy, Early Detection of Cancer, Genes, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Mutation, Patient Selection, Predictive Value of Tests, Prostate, Prostatic Neoplasms

Relation: http://www.ncbi.nlm.nih.gov/pubmed/24484606; European Urology, 2014, 66 (3), pp. 489-499; http://www.sciencedirect.com/science/article/pii/S0302283814000049; http://hdl.handle.net/2381/39201; S0302-2838(14)00004-9

الاتاحة: http://www.sciencedirect.com/science/article/pii/S0302283814000049
http://hdl.handle.net/2381/39201
https://doi.org/10.1016/j.eururo.2014.01.003

المؤلفون: Kraan, C. M., Date, P., Rattray, A., Sangeux, M., Bui, Q. M., Baker, E. K., Morison, J., Amor, D. J., Godler, D. E.

المساهمون: National Health and Medical Research Council, Royal Children's Hospital Foundation, Murdoch Children's Research Institute

المصدر: Journal of Intellectual Disability Research ; volume 66, issue 8-9, page 717-725 ; ISSN 0964-2633 1365-2788

الاتاحة: http://dx.doi.org/10.1111/jir.12955
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jir.12955
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/jir.12955

المؤلفون: Catford, S R, Halliday, J, Lewis, S, O’Bryan, M K, Handelsman, D J, Hart, R J, McBain, J, Rombauts, L, Amor, D J, Saffery, R, McLachlan, R I

المساهمون: National Health and Medical Research Council Partnership

المصدر: Human Reproduction ; volume 37, issue 12, page 2908-2920 ; ISSN 0268-1161 1460-2350

الاتاحة: http://dx.doi.org/10.1093/humrep/deac212
https://academic.oup.com/humrep/article-pdf/37/12/2908/47257428/deac212.pdf

المؤلفون: Radio F. C., Pang K., Ciolfi A., Levy M. A., Hernandez-Garcia A., Pedace L., Pantaleoni F., Liu Z., de Boer E., Jackson A., Bruselles A., McConkey H., Stellacci E., Lo Cicero S., Motta M., Carrozzo R., Dentici M. L., McWalter K., Desai M., Monaghan K. G., Telegrafi A., Philippe C., Vitobello A., Au M., Grand K., Sanchez-Lara P. A., Baez J., Lindstrom K., Kulch P., Sebastian J., Madan-Khetarpal S., Roadhouse C., MacKenzie J. J., Monteleone B., Saunders C. J., Jean Cuevas J. K., Cross L., Zhou D., Hartley T., Sawyer S. L., Monteiro F. P., Secches T. V., Kok F., Schultz-Rogers L. E., Macke E. L., Morava E., Klee E. W., Kemppainen J., Iascone M., Selicorni A., Tenconi R., Amor D. J., Pais L., Gallacher L., Turnpenny P. D., Stals K., Ellard S., Cabet S., Lesca G., Pascal J., Steindl K., Ravid S., Weiss K., Castle A. M. R., Carter M. T., Kalsner L., de Vries B. B. A., van Bon B. W., Wevers M. R., Pfundt R., Stegmann A. P. A., Kerr B., Kingston H. M., Chandler K. E., Sheehan W., Elias A. F., Shinde D. N., Towne M. C., Robin N. H., Goodloe D., Vanderver A., Sherbini O., Bluske K., Hagelstrom R. T., Zanus C., Faletra F., Musante L., Kurtz-Nelson E. C., Earl R. K., Anderlid B. -M., Morin G., van Slegtenhorst M., Diderich K. E. M., Brooks A. S., Gribnau J., Boers R. G., Finestra T. R., Carter L. B., Rauch A., Gasparini P., Boycott K. M., Barakat T. S., Graham J. M., Faivre L., Banka S., Wang T., Eichler E. E., Priolo M., Dallapiccola B., Vissers L. E. L. M., Sadikovic B., Scott D. A., Holder J. L., Tartaglia M.

المساهمون: Radio, F. C., Pang, K., Ciolfi, A., Levy, M. A., Hernandez-Garcia, A., Pedace, L., Pantaleoni, F., Liu, Z., de Boer, E., Jackson, A., Bruselles, A., Mcconkey, H., Stellacci, E., Lo Cicero, S., Motta, M., Carrozzo, R., Dentici, M. L., Mcwalter, K., Desai, M., Monaghan, K. G., Telegrafi, A., Philippe, C., Vitobello, A., Au, M., Grand, K., Sanchez-Lara, P. A., Baez, J., Lindstrom, K., Kulch, P., Sebastian, J., Madan-Khetarpal, S., Roadhouse, C., Mackenzie, J. J., Monteleone, B., Saunders, C. J., Jean Cuevas, J. K., Cross, L., Zhou, D., Hartley, T., Sawyer, S. L., Monteiro, F. P., Secches, T. V., Kok, F., Schultz-Rogers, L. E., Macke, E. L., Morava, E., Klee, E. W., Kemppainen, J., Iascone, M., Selicorni, A., Tenconi, R., Amor, D. J., Pais, L., Gallacher, L., Turnpenny, P. D., Stals, K., Ellard, S., Cabet, S., Lesca, G., Pascal, J., Steindl, K., Ravid, S., Weiss, K., Castle, A. M. R., Carter, M. T., Kalsner, L., de Vries, B. B. A., van Bon, B. W., Wevers, M. R., Pfundt, R., Stegmann, A. P. A., Kerr, B., Kingston, H. M., Chandler, K. E., Sheehan, W., Elias, A. F., Shinde, D. N., Towne, M. C., Robin, N. H., Goodloe, D., Vanderver, A., Sherbini, O., Bluske, K., Hagelstrom, R. T., Zanus, C., Faletra, F., Musante, L., Kurtz-Nelson, E. C., Earl, R. K., Anderlid, B. -M., Morin, G., van Slegtenhorst, M., Diderich, K. E. M., Brooks, A. S., Gribnau, J., Boers, R. G., Finestra, T. R., Carter, L. B., Rauch, A., Gasparini, P.

مصطلحات موضوعية: 1p36, distal 1p36 deletion syndrome, DNA methylome analysi, episignature, genotype-phenotype correlation, neurodevelopmental disorder, obesity, proximal 1p36 deletion syndrome, SPEN, X chromosome, Adolescent, Autism Spectrum Disorder, Child, Preschool, Chromosome Deletion, Chromosome Disorder, Chromosomes, Human, Pair 1, DNA Methylation, DNA-Binding Protein, Epigenesis, Genetic, Female, Haploinsufficiency, Intellectual Disability, Male, Phenotype, RNA-Binding Protein

Relation: info:eu-repo/semantics/altIdentifier/pmid/33596411; info:eu-repo/semantics/altIdentifier/wos/WOS:000629143200015; volume:108; issue:3; firstpage:502; lastpage:516; numberofpages:15; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11368/2993648; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101770406; https://www.sciencedirect.com/science/article/pii/S000292972100015X?via=ihub; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008487/

الاتاحة: http://hdl.handle.net/11368/2993648
https://doi.org/10.1016/j.ajhg.2021.01.015
https://www.sciencedirect.com/science/article/pii/S000292972100015X?via=ihub
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008487/

المؤلفون: Voisin N., Schnur R. E., Douzgou S., Hiatt S. M., Rustad C. F., Brown N. J., Earl D. L., Keren B., Levchenko O., Geuer S., Verheyen S., Johnson D., Zarate Y. A., Hancarova M., Amor D. J., Bebin E. M., Blatterer J., Brusco A., Cappuccio G., Charrow J., Chatron N., Cooper G. M., Courtin T., Dadali E., Delafontaine J., Del Giudice E., Doco M., Douglas G., Eisenkolbl A., Funari T., Giannuzzi G., Gruber-Sedlmayr U., Guex N., Heron D., Holla O. L., Hurst A. C. E., Juusola J., Kronn D., Lavrov A., Lee C., Lorrain S., Merckoll E., Mikhaleva A., Norman J., Pradervand S., Prchalova D., Rhodes L., Sanders V. R., Sedlacek Z., Seebacher H. A., Sellars E. A., Sirchia F., Takenouchi T., Tanaka A. J., Taska-Tench H., Tonne E., Tveten K., Vitiello G., Vlckova M., Uehara T., Nava C., Yalcin B., Kosaki K., Donnai D., Mundlos S., Brunetti-Pierri N., Chung W. K., Reymond A.

المساهمون: Voisin, N., Schnur, R. E., Douzgou, S., Hiatt, S. M., Rustad, C. F., Brown, N. J., Earl, D. L., Keren, B., Levchenko, O., Geuer, S., Verheyen, S., Johnson, D., Zarate, Y. A., Hancarova, M., Amor, D. J., Bebin, E. M., Blatterer, J., Brusco, A., Cappuccio, G., Charrow, J., Chatron, N., Cooper, G. M., Courtin, T., Dadali, E., Delafontaine, J., Del Giudice, E., Doco, M., Douglas, G., Eisenkolbl, A., Funari, T., Giannuzzi, G., Gruber-Sedlmayr, U., Guex, N., Heron, D., Holla, O. L., Hurst, A. C. E., Juusola, J., Kronn, D., Lavrov, A., Lee, C., Lorrain, S., Merckoll, E., Mikhaleva, A., Norman, J., Pradervand, S., Prchalova, D., Rhodes, L., Sanders, V. R., Sedlacek, Z., Seebacher, H. A., Sellars, E. A., Sirchia, F., Takenouchi, T., Tanaka, A. J., Taska-Tench, H., Tonne, E., Tveten, K., Vitiello, G., Vlckova, M., Uehara, T., Nava, C., Yalcin, B., Kosaki, K., Donnai, D., Mundlos, S., Brunetti-Pierri, N., Chung, W. K., Reymond, A.

مصطلحات موضوعية: AFF3, AFF4, horseshoe kidney, intellectual disability, mesomelic dysplasia, Adolescent, Amino Acid Sequence, Animal, Brain Disease, Child, Preschool, Epilepsy, Evolution, Molecular, Female, Fused Kidney, Gene Frequency, Human, Infant, Male, Mice, Models, Nuclear Protein, Osteochondrodysplasia, Phenotype, Protein Stability, Syndrome, Transcriptional Elongation Factor, Young Adult, Zebrafish

Relation: info:eu-repo/semantics/altIdentifier/pmid/33961779; info:eu-repo/semantics/altIdentifier/wos/WOS:000658896700007; volume:108; issue:5; firstpage:857; lastpage:873; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11571/1451931; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105081668

الاتاحة: http://hdl.handle.net/11571/1451931
https://doi.org/10.1016/j.ajhg.2021.04.001

المؤلفون: Chowdhury F., Wang L., Al-Raqad M., Amor D. J., Baxova A., Bendova S., Biamino E., Brusco A., Caluseriu O., Cox N. J., Froukh T., Gunay-Aygun M., Hancarova M., Haynes D., Heide S., Hoganson G., Kaname T., Keren B., Kosaki K., Kubota K., Lemons J. M., Magrina M. A., Mark P. R., McDonald M. T., Montgomery S., Morley G. M., Ohnishi H., Okamoto N., Rodriguez-Buritica D., Rump P., Sedlacek Z., Schatz K., Streff H., Uehara T., Walia J. S., Wheeler P. G., Wiesener A., Zweier C., Kawakami K., Wentzensen I. M., Lalani S. R., Siu V. M., Bi W., Balci T. B.

المساهمون: Chowdhury F., Wang L., Al-Raqad M., Amor D.J., Baxova A., Bendova S., Biamino E., Brusco A., Caluseriu O., Cox N.J., Froukh T., Gunay-Aygun M., Hancarova M., Haynes D., Heide S., Hoganson G., Kaname T., Keren B., Kosaki K., Kubota K., Lemons J.M., Magrina M.A., Mark P.R., McDonald M.T., Montgomery S., Morley G.M., Ohnishi H., Okamoto N., Rodriguez-Buritica D., Rump P., Sedlacek Z., Schatz K., Streff H., Uehara T., Walia J.S., Wheeler P.G., Wiesener A., Zweier C., Kawakami K., Wentzensen I.M., Lalani S.R., Siu V.M., Bi W., Balci T.B.

مصطلحات موضوعية: Mutation, Missense, Haploinsufficiency, Intellectual Disability, PRR12, neurodevelopmental disorder

Relation: info:eu-repo/semantics/altIdentifier/pmid/33824499; info:eu-repo/semantics/altIdentifier/wos/WOS:000637478700001; volume:23; issue:7; firstpage:1234; lastpage:1245; numberofpages:12; journal:GENETICS IN MEDICINE; http://hdl.handle.net/2318/1808620; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103629659; https://www.nature.com/articles/s41436-021-01129-6

الاتاحة: http://hdl.handle.net/2318/1808620
https://doi.org/10.1038/s41436-021-01129-6
https://www.nature.com/articles/s41436-021-01129-6

المؤلفون: Win A. K., Dowty J. G., Reece J. C., Lee G., Templeton A. S., Plazzer J. -P., Buchanan D. D., Akagi K., Aksoy S., Alonso A., Alvarez K., Amor D. J., Ankathil R., Aretz S., Arnold J. L., Aronson M., Austin R., Backman A. -S., Bajwa-ten Broeke S. W., Barca-Tierno V., Barwell J., Bernstein I., Berthet P., Betz B., Bignon Y. -J., Boisjoli T., Bonadona V., Briollais L., Brunet J., Bucksch K., Buecher B., Buettner R., Burn J., Caldes T., Capella G., Caron O., Casey G., Chew M. H., Choi Y. -H., Church J., Clendenning M., Colas C., Cops E. J., Coupier I., Cruz-Correa M., de la Chapelle A., de Wind N., Debniak T., Della Valle A., Delnatte C., Dhooge M., Dominguez-Valentin M., Drouet Y., Duijkers F. A., Engel C., Esperon P., Evans D. G., Falcon de Vargas A., Figueiredo J. C., Foulkes W., Fourme E., Frebourg T., Gallinger S., Garre P., Genuardi M., Gerdes A. -M., Gima L. M., Giraud S., Goodwin A., Gorgens H., Green K., Guillem J., Guillen-Ponce C., Guimbaud R., Guindalini R. S. C., Half E. E., Hall M. J., Hampel H., Hansen T. V. O., Heinimann K., Hes F. J., Hill J., Ho J. W. C., Holinski-Feder E., Hoogerbrugge N., Huneburg R., Huntley V., James P. A., Jensen U. B., John T., Juhari W. K. W., Kalady M., Kastrinos F., Kloor M., Kohonen-Corish M. R., Krogh L. N., Kupfer S. S., Ladabaum U., Lagerstedt-Robinson K., Lalloo F., Lasset C., Latchford A., Laurent-Puig P., Lautrup C. K., Leggett B. A., Lejeune S., LeMarchand L., Ligtenberg M., Lindor N., Loeffler M., Longy M., Lopez F., Lowery J., Lubinski J., Lucassen A. M., Lynch P. M., Malinska K., Matsubara N., Mecklin J. -P., Moller P., Monahan K., Morrison P. J., Nattermann J., Navarro M., Neffa F., Neklason D., Newcomb P. A., Ngeow J., Nichols C., Nielsen M., Nixon D. M., Nogues C., Okkels H., Olschwang S., Pachter N., Pai R. K., Palmero E. I., Pande M., Parry S., Patel S. G., Pearlman R., Perne C., Pineda M., Poplawski N. K., Pylvanainen K., Qiu J., Rahner N., Ramesar R., Rasmussen L. J., Redler S., Reis R. M., Ricciardiello L., Rogoza-Janiszewska E., Rosty C., Samadder N. J., Sampson J. R., Schackert H. K., Schmiegel W., Schulmann K., Schuster H., Scott R., Senter L., Seppala T. T., Shtoyerman R., Sijmons R. H., Snyder C., Solomon I. B., Soto J. L., Southey M. C., Spigelman A., Spirandelli F., Spurdle A. B., Steinke-Lange V., Stoffel E. M., Strassburg C. P., Sunde L., Susman R., Syngal S., Tanakaya K., Tezcan G., Therkildsen C., Thibodeau S., Tomita N., Tucker K. M., Tunca B., Turchetti D., Uhrhammer N., Utsunomiya J., Vaccaro C., van Duijnhoven F. J. B., van Wanzeele M. J., Vangala D. B., Vasen H. F. A., von Knebel Doeberitz M., von Salome J., Wadt K. A. W., Ward R. L., Weitz J., Weitzel J. N., Williams H., Winship I., Wise P. E., Wods J., Woods M. O., Yamaguchi T., Zachariae S., Zahary M. N., Hopper J. L., Haile R. W., Macrae F. A., Moslein G., Jenkins M. A.

المساهمون: Win A.K., Dowty J.G., Reece J.C., Lee G., Templeton A.S., Plazzer J.-P., Buchanan D.D., Akagi K., Aksoy S., Alonso A., Alvarez K., Amor D.J., Ankathil R., Aretz S., Arnold J.L., Aronson M., Austin R., Backman A.-S., Bajwa-ten Broeke S.W., Barca-Tierno V., Barwell J., Bernstein I., Berthet P., Betz B., Bignon Y.-J., Boisjoli T., Bonadona V., Briollais L., Brunet J., Bucksch K., Buecher B., Buettner R., Burn J., Caldes T., Capella G., Caron O., Casey G., Chew M.H., Choi Y.-H., Church J., Clendenning M., Colas C., Cops E.J., Coupier I., Cruz-Correa M., de la Chapelle A., de Wind N., Debniak T., Della Valle A., Delnatte C., Dhooge M., Dominguez-Valentin M., Drouet Y., Duijkers F.A., Engel C., Esperon P., Evans D.G., Falcon de Vargas A., Figueiredo J.C., Foulkes W., Fourme E., Frebourg T., Gallinger S., Garre P., Genuardi M., Gerdes A.-M., Gima L.M., Giraud S., Goodwin A., Gorgens H., Green K., Guillem J., Guillen-Ponce C., Guimbaud R., Guindalini R.S.C., Half E.E., Hall M.J., Hampel H., Hansen T.V.O., Heinimann K., Hes F.J., Hill J., Ho J.W.C., Holinski-Feder E., Hoogerbrugge N., Huneburg R., Huntley V., James P.A., Jensen U.B., John T., Juhari W.K.W., Kalady M., Kastrinos F., Kloor M., Kohonen-Corish M.R., Krogh L.N., Kupfer S.S., Ladabaum U., Lagerstedt-Robinson K., Lalloo F.

مصطلحات موضوعية: Lynch Syndrome, colorectal cancer, DNA mismatch repair

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34111421; info:eu-repo/semantics/altIdentifier/wos/WOS:000668269600046; volume:22; issue:7; firstpage:1014; lastpage:1022; numberofpages:9; journal:THE LANCET ONCOLOGY; https://hdl.handle.net/11585/827697; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85108809980; https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(21)00189-3/abstract#; https://www.sciencedirect.com/science/article/pii/S1470204521001893

الاتاحة: https://hdl.handle.net/11585/827697
https://doi.org/10.1016/S1470-2045(21)00189-3
https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(21)00189-3/abstract#
https://www.sciencedirect.com/science/article/pii/S1470204521001893

المؤلفون: Godler, D. E., Inaba, Y., Shi, E. Z., Skinner, C., Bui, Q. M., Francis, D., Amor, D. J., Hopper, J. L., Loesch, D. Z., Hagerman, R. J., Schwartz, C. E., Slater, H. R.

المصدر: Human Molecular Genetics ; volume 22, issue 8, page 1516-1524 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddt002
http://academic.oup.com/hmg/article-pdf/22/8/1516/1737578/ddt002.pdf

المؤلفون: Bruno, D L, White, S M, Ganesamoorthy, D, Burgess, T, Butler, K, Corrie, S, Francis, D, Hills, L, Prabhakara, K, Ngo, C, Norris, F, Oertel, R, Pertile, M D, Stark, Z, Amor, D J, Slater, H R

مصطلحات موضوعية: Copy number variation

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/48/12/831; http://dx.doi.org/10.1136/jmedgenet-2011-100372

الاتاحة: http://jmg.bmj.com/cgi/content/short/48/12/831
https://doi.org/10.1136/jmedgenet-2011-100372

المؤلفون: Wilson, C. L., Fisher, J. R., Hammarberg, K., Amor, D. J., Halliday, J. L.

المصدر: Human Reproduction ; volume 26, issue 5, page 1209-1219 ; ISSN 0268-1161 1460-2350

الاتاحة: https://doi.org/10.1093/humrep/der041
http://academic.oup.com/humrep/article-pdf/26/5/1209/1962617/der041.pdf

المؤلفون: Bruno, D L, Ganesamoorthy, D, Schoumans, J, Bankier, A, Coman, D, Delatycki, M, Gardner, R J M, Hunter, M, James, P A, Kannu, P, McGillivray, G, Pachter, N, Peters, H, Rieubland, C, Savarirayan, R, Scheffer, I E, Sheffield, L, Tan, T, White, S M, Yeung, A, Bowman, Z, Ngo, C, Choy, K W, Cacheux, V, Wong, L, Amor, D J, Slater, H R

مصطلحات موضوعية: Letters to JMG

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/46/2/123; http://dx.doi.org/10.1136/jmg.2008.062604

الاتاحة: http://jmg.bmj.com/cgi/content/short/46/2/123
https://doi.org/10.1136/jmg.2008.062604

المؤلفون: Amor, D. J., Halliday, J.

المصدر: Human Reproduction ; volume 23, issue 12, page 2826-2834 ; ISSN 0268-1161 1460-2350

الاتاحة: https://doi.org/10.1093/humrep/den310
http://academic.oup.com/humrep/article-pdf/23/12/2826/1684614/den310.pdf

المؤلفون: Amor, D. J., Cameron, C.

المصدر: Human Reproduction ; volume 23, issue 4, page 729-734 ; ISSN 0268-1161 1460-2350

الاتاحة: https://doi.org/10.1093/humrep/dem433
http://academic.oup.com/humrep/article-pdf/23/4/729/1716613/dem433.pdf

المؤلفون: Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., Nordlie, S. M., Elie, A., Corbett, M. A., Norton, B. Y., van Eyk, C. L., Haider, S., Guida, B. S., Magee, H., Liu, J. M., Pastore, S., Vincent, J. B., Brunstrom-Hernandez, J., Papavasileiou, A., Fahey, M. C., Berry, J. G., Harper, K., Zhou, C. C., Zhang, J. H., Li, B. Y., Heim, J., Webber, D. L., Frank, M. S. B., Xia, L., Xu, Y. R., Zhu, D. N., Zhang, B. H., Sheth, A. H., Knight, J. R., Castaldi, C., Tikhonova, I. R., Lopez-Giraldez, F., Keren, B., Whalen, S., Buratti, J., Doummar, D., Cho, M. G., Retterer, K., Millan, F., Wang, Y. G., Waugh, J. L., Rodan, L., Cohen, J. S., Fatemi, A., LinE, LinE, Phillips, J. P., Feyma, T., MacLennan, S. C., Vaughan, S., Crompton, K. E., Reid, S. M., Reddihough, D. S., Shang, Q., Gao, C., Novak, I., Badawi, N., Wilson, Y. A., McIntyre, S. J., Mane, S. M., Wang, Xiaoyang, 1965, Amor, D. J., Zarnescu, D. C., Lu, Q. S., Xing, Q. H., Zhu, C. L., Bilguvar, K., Padilla-Lopez, S., Lifton, R. P., Gecz, J., MacLennan, A. H., Kruer, M. C.

المصدر: Nature Genetics. 52(10)

مصطلحات موضوعية: Genetics and Genomics, Genetik och genomik, Medical Genetics and Genomics, Medicinsk genetik och genomik, congenital heart-disease, copy-number variations, de-novo, intellectual, disability, truncating mutations, alk kinase, protein, brain, rare, phosphorylation, Genetics & Heredity

URL الوصول: https://gup.ub.gu.se/publication/297233