نتائج البحث

1

دورية أكاديمية

Effects of eight neuropsychiatric copy number variants on human brain structure

المؤلفون: Modenato C., Kumar K., Moreau C., Martin-Brevet S., Huguet G., Schramm C., Jean-Louis M., Martin C. -O., Younis N., Tamer P., Douard E., Thebault-Dagher F., Cote V., Charlebois A. -R., Deguire F., Maillard A. M., Rodriguez-Herreros B., Pain A., Richetin S., Addor M. -C., Andrieux J., Arveiler B., Baujat G., Sloan-Bena F., Belfiore M., Bonneau D., Bouquillon S., Boute O., Brusco A., Busa T., Caberg J. -H., Campion D., Colombert V., Cordier M. -P., David A., Debray F. -G., Delrue M. -A., Doco-Fenzy M., Dunkhase-Heinl U., Edery P., Fagerberg C., Faivre L., Forzano F., Genevieve D., Gerard M., Giachino D., Guichet A., Guillin O., Heron D., Isidor B., Jacquette A., Jaillard S., Journel H., Keren B., Lacombe D., Lebon S., Le Caignec C., Lemaitre M. -P., Lespinasse J., Mathieu-Dramart M., Mercier S., Mignot C., Missirian C., Petit F., Pilekaer Sorensen K., Pinson L., Plessis G., Prieur F., Raymond A., Rooryck-Thambo C., Rossi M., Sanlaville D., Schlott Kristiansen B., Schluth-Bolard C., Till M., Van Haelst M., Van Maldergem L., 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., Olson J. E., 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., LaGuerre K., Levy S., Cavanagh A. L., Llorens A. V., Campe K. L., Luks T. L., Marco E. J., Martin S., Martin A. J., Marzano G., Masson C., McGovern K. E., Keehn R. M. N., 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-Packard B., Gallagher A. S., Swarnakar V., Thieu T., Triantafallou C., Vaughan R., Wakahiro M., Wallace A., Ward T., Wenegrat J., Wolken A., Melie-Garcia L., Kushan L., Silva A. I., van den Bree M. B. M., Linden D. E. J., Owen M. J., Hall J., Lippe S., Chakravarty M., Bzdok D., Bearden C. E., Draganski B., Jacquemont S.

المساهمون: Modenato C., Kumar K., Moreau C., Martin-Brevet S., Huguet G., Schramm C., Jean-Louis M., Martin C.-O., Younis N., Tamer P., Douard E., Thebault-Dagher F., Cote V., Charlebois A.-R., Deguire F., Maillard A.M., Rodriguez-Herreros B., Pain A., Richetin S., Addor M.-C., Andrieux J., Arveiler B., Baujat G., Sloan-Bena F., Belfiore M., Bonneau D., Bouquillon S., Boute O., Brusco A., Busa T., Caberg J.-H., Campion D., Colombert V., Cordier M.-P., David A., Debray F.-G., Delrue M.-A., Doco-Fenzy M., Dunkhase-Heinl U., Edery P., Fagerberg C., Faivre L., Forzano F., Genevieve D., Gerard M., Giachino D., Guichet A., Guillin O., Heron D., Isidor B., Jacquette A., Jaillard S., Journel H., Keren B., Lacombe D., Lebon S., Le Caignec C., Lemaitre M.-P., Lespinasse J., Mathieu-Dramart M., Mercier S., Mignot C., Missirian C., Petit F., Pilekaer Sorensen K., Pinson L., Plessis G., Prieur F., Raymond A., Rooryck-Thambo C., Rossi M., Sanlaville D., Schlott Kristiansen B., Schluth-Bolard C., Till M., Van Haelst M., Van Maldergem L., 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.

مصطلحات موضوعية: Brain, Human, Magnetic Resonance Imaging, Neuroimaging, DNA Copy Number Variation, Schizophrenia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34285187; info:eu-repo/semantics/altIdentifier/wos/WOS:000674910100001; volume:11; issue:1; firstpage:399; lastpage:408; numberofpages:10; journal:TRANSLATIONAL PSYCHIATRY; http://hdl.handle.net/2318/1808624Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111690086; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8292542/pdf/41398_2021_Article_1490.pdfTest

الإتاحة: https://doi.org/10.1038/s41398-021-01490-9Test
http://hdl.handle.net/2318/1808624Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8292542/pdf/41398_2021_Article_1490.pdfTest

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2

دورية أكاديمية

Gestational trophoblastic disease in Switzerland: retrospective study of the impact of a regional reference centre.

المؤلفون: Fehlmann, A., Benkortbi, K., Rosseel, G., Meyer-Hamme, U., Tille, J.C., Sloan-Bena, F., Paoloni-Giacobino, A., Rougemont, A.L., Bodmer, A., Botsikas, D., Mathevet, P., Petignat, P., Undurraga Malinverno, M.

المصدر: Swiss medical weekly, vol. 151, pp. w20406

مصطلحات موضوعية: Chorionic Gonadotropin, Female, Gestational Trophoblastic Disease/diagnosis, Gestational Trophoblastic Disease/drug therapy, Gestational Trophoblastic Disease/epidemiology, Humans, Hydatidiform Mole, Pregnancy, Retrospective Studies, Switzerland/epidemiology

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33578430; info:eu-repo/semantics/altIdentifier/eissn/1424-3997; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C14B5D8343C55; https://serval.unil.ch/notice/serval:BIB_C14B5D8343C5Test; urn:issn:0036-7672; https://serval.unil.ch/resource/serval:BIB_C14B5D8343C5.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C14B5D8343C55Test

الإتاحة: https://doi.org/10.4414/smw.2021.20406Test
https://serval.unil.ch/notice/serval:BIB_C14B5D8343C5Test
https://serval.unil.ch/resource/serval:BIB_C14B5D8343C5.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C14B5D8343C55Test

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3

دورية أكاديمية

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

المؤلفون: Den Hoed, J., De Boer, E., Voisin, N., Dingemans, A., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S., Banka, S., Bena, F., Ben-Zeev, B., Bonagura, V., Bruel, A., Brunet, T., Brunner, H., Chew, H., Chrast, J., Cimbalistienė, L., Coon, H., Délot, E., Démurger, F., Denommé-Pichon, A., Depienne, C., Donnai, D., Dyment, D., Elpeleg, O., Faivre, L., Gilissen, C., Granger, L., Haber, B., Hachiya, Y., Hamzavi Abedi, Y., Hanebeck, J., Hehir-Kwa, J., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P., Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M., Miyatake, S., Mizuguchi, T., Moey, L., Mohammed, S., Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T., Parker, M., Petersen, A., Pfundt, R., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J., Santiago-Sim, T., Schwager, C., Sinnema, M., Snijders Blok, L., Spillmann, R., Stegmann, A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-dos-Santos, J., Vergano, S., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M., Zuccarelli, B., Kini, U., Newbury, D., Kleefstra, T., Reymond, A., Fisher, S., Vissers, L.

المساهمون: The DDD study

المصدر: The American Journal of Human Genetics

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/21.11116/0000-0007-623A-ATest; http://hdl.handle.net/21.11116/0000-0007-F4E7-1Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.007Test
http://hdl.handle.net/21.11116/0000-0007-623A-ATest
http://hdl.handle.net/21.11116/0000-0007-F4E7-1Test

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4

دورية أكاديمية

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

المؤلفون: Lantieri F., Gimelli S., Viaggi C., Stathaki E., Malacarne M., Santamaria G., Grossi A., Mosconi M., Sloan-Bena F., Prato A. P., Coviello D., Ceccherini I.

المساهمون: Lantieri, F., Gimelli, S., Viaggi, C., Stathaki, E., Malacarne, M., Santamaria, G., Grossi, A., Mosconi, M., Sloan-Bena, F., Prato, A. P., Coviello, D., Ceccherini, I.

مصطلحات موضوعية: Candidate genes and regions, Comparative genomic hybridization, Copy number variations, Custom array, Hirschsprung disease

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31767031; info:eu-repo/semantics/altIdentifier/wos/WOS:000509802400001; volume:14 (1); firstpage:270-1; lastpage:270-16; numberofpages:16; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11567/998059Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85075578313

الإتاحة: https://doi.org/10.1186/s13023-019-1205-3Test
http://hdl.handle.net/11567/998059Test

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5

دورية أكاديمية

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice

المؤلفون: Bagheri-Fam, S, Chen, H, Wilson, S, Ayers, K, Hughes, J, Sloan-Bena, F, Calvel, P, Robevska, G, Puisac, B, Kusz-Zamelczyk, K, Gimelli, S, Spik, A, Jaruzelska, J, Warenik-Szymankiewicz, A, Farad, S, Nef, S, Pié, J, Thomas, P, Sinclair, A, Wilhelm, D.

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/ES/DGA/B32-17R; http://zaguan.unizar.es/record/87839Test

الإتاحة: https://doi.org/10.1371/journal.pone.0227411Test
http://zaguan.unizar.es/record/87839Test

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6

دورية أكاديمية

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

المؤلفون: Cleynen I., Engchuan W., Hestand M. S., Heung T., Holleman A. M., Johnston H. R., Monfeuga T., McDonald-McGinn D. M., Gur R. E., Morrow B. E., Swillen A., Vorstman J. A. S., Bearden C. E., Chow E. W. C., van den Bree M., Emanuel B. S., Vermeesch J. R., Warren S. T., Owen M. J., Chopra P., Cutler D. J., Duncan R., Kotlar A. V., Mulle J. G., Voss A. J., Zwick M. E., Diacou A., Golden A., Guo T., Lin J. -R., Wang T., Zhang Z., Zhao Y., Marshall C., Merico D., Jin A., Lilley B., Salmons H. I., Tran O., Holmans P., Pardinas A., Walters J. T. R., Demaerel W., Boot E., Butcher N. J., Costain G. A., Lowther C., Evers R., van Amelsvoort T. A. M. J., van Duin E., Vingerhoets C., Breckpot J., Devriendt K., Vergaelen E., Vogels A., Crowley T. B., McGinn D. E., Moss E. M., Sharkus R. J., Unolt M., Zackai E. H., Calkins M. E., Gallagher R. S., Gur R. C., Tang S. X., Fritsch R., Ornstein C., Repetto G. M., Breetvelt E., Duijff S. N., Fiksinski A., Moss H., Niarchou M., Murphy K. C., Prasad S. E., Daly E. M., Gudbrandsen M., Murphy C. M., Murphy D. G., Buzzanca A., Fabio F. D., Digilio M. C., Pontillo M., Marino B., Vicari S., Coleman K., Cubells J. F., Ousley O. Y., Carmel M., Gothelf D., Mekori-Domachevsky E., Michaelovsky E., Weinberger R., Weizman A., Kushan L., Jalbrzikowski M., Armando M., Eliez S., Sandini C., Schneider M., Bena F. S., Antshel K. M., Fremont W., Kates W. R., Belzeaux R., Busa T., Philip N., Campbell L. E., McCabe K. L., Hooper S. R., Schoch K., Shashi V., Simon T. J., Tassone F., Arango C., Fraguas D., Garcia-Minaur S., Morey-Canyelles J., Rosell J., Suner D. H., Raventos-Simic J., Epstein M. P., Williams N. M., Bassett A. S.

المساهمون: Cleynen, I., Engchuan, W., Hestand, M. S., Heung, T., Holleman, A. M., Johnston, H. R., Monfeuga, T., McDonald-McGinn, D. M., Gur, R. E., Morrow, B. E., Swillen, A., Vorstman, J. A. S., Bearden, C. E., Chow, E. W. C., van den Bree, M., Emanuel, B. S., Vermeesch, J. R., Warren, S. T., Owen, M. J., Chopra, P., Cutler, D. J., Duncan, R., Kotlar, A. V., Mulle, J. G., Voss, A. J., Zwick, M. E., Diacou, A., Golden, A., Guo, T., Lin, J. -R., Wang, T., Zhang, Z., Zhao, Y., Marshall, C., Merico, D., Jin, A., Lilley, B., Salmons, H. I., Tran, O., Holmans, P., Pardinas, A., Walters, J. T. R., Demaerel, W., Boot, E., Butcher, N. J., Costain, G. A., Lowther, C., Evers, R., van Amelsvoort, T. A. M. J., van Duin, E., Vingerhoets, C., Breckpot, J., Devriendt, K., Vergaelen, E., Vogels, A., Crowley, T. B., McGinn, D. E., Moss, E. M., Sharkus, R. J., Unolt, M., Zackai, E. H., Calkins, M. E., Gallagher, R. S., Gur, R. C., Tang, S. X., Fritsch, R., Ornstein, C., Repetto, G. M., Breetvelt, E., Duijff, S. N., Fiksinski, A., Moss, H., Niarchou, M., Murphy, K. C., Prasad, S. E., Daly, E. M., Gudbrandsen, M., Murphy, C. M., Murphy, D. G., Buzzanca, A., Fabio, F. D., Digilio, M. C., Pontillo, M., Marino, B., Vicari, S., Coleman, K., Cubells, J. F., Ousley, O. Y., Carmel, M., Gothelf, D., Mekori-Domachevsky, E., Michaelovsky, E., Weinberger, R., Weizman, A., Kushan, L., Jalbrzikowski, M., Armando, M., Eliez, S., Sandini, C., Schneider, M.

مصطلحات موضوعية: genetic, 22q11deletion syndrome, schizophrenia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32015465; info:eu-repo/semantics/altIdentifier/wos/WOS:000510821800003; journal:MOLECULAR PSYCHIATRY; http://hdl.handle.net/11573/1486440Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85079175539

الإتاحة: https://doi.org/10.1038/s41380-020-0654-3Test
http://hdl.handle.net/11573/1486440Test

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7

دورية أكاديمية

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance.

المؤلفون: Stamoulis, G., Garieri, M., Makrythanasis, P., Letourneau, A., Guipponi, M., Panousis, N., Sloan-Béna, F., Falconnet, E., Ribaux, P., Borel, C., Santoni, F., Antonarakis, S.E.

المصدر: Nature communications, vol. 10, no. 1, pp. 4495

مصطلحات موضوعية: Alleles, Chromosomes, Human, Pair 13/genetics, Pair 18/genetics, Pair 8/genetics, DNA Copy Number Variations, Down Syndrome/genetics, Female, Fibroblasts, Gene Dosage, Gene Expression Profiling, Humans, Male, Models, Genetic, Mosaicism, Phenotype, RNA-Seq, Single-Cell Analysis, Transcriptome/genetics, Trisomy/genetics

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31582743; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_1AC470E449683; https://serval.unil.ch/notice/serval:BIB_1AC470E44968Test; urn:issn:2041-1723; https://serval.unil.ch/resource/serval:BIB_1AC470E44968.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1AC470E449683Test

الإتاحة: https://doi.org/10.1038/s41467-019-12273-8Test
https://serval.unil.ch/notice/serval:BIB_1AC470E44968Test
https://serval.unil.ch/resource/serval:BIB_1AC470E44968.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1AC470E449683Test

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النص الكامل

8

تقرير

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

المؤلفون: den Hoed, Joery, de Boer, Elke, Voisin, N, Dingemans, A, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S, Banka, S, Bena, F, Ben-Zeev, B, Bonagura, V, Bruel, A, Brunet, T, Brunner, H. G., Chew, H. B., Chrast, J., Cimbalistienė, Loreta, Coon, Hilary, study, The DDD, Délot, Emmanuèlle C, Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, C., Donnai, Dian, Dyment, David A, Elpeleg, Orly, Faivre, L, Gilissen, Christian, Granger, L., Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin Hamzavi, Hanebeck, Jennifer, Hehir-Kwa, Jayne Y, Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly L., Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja A, Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad A., Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip H., Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy Blake, Parker, Michael, Petersen, Andrea K., Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill A., Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Blok, Lot Snijders, Spillmann, Rebecca C., Stegmann, Alexander P A, Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-dos-Santos, Juliana H., Schrier Vergano, Samantha A., Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia C., Zuccarelli, Britton D, Kini, Usha, Newbury, Dianne F., Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon E., Vissers, Lisenka E L M

المصدر: den Hoed , J , de Boer , E , Voisin , N , Dingemans , A , Guex , N , Wiel , L , Nellaker , C , Amudhavalli , S , Banka , S , Bena , F , Ben-Zeev , B , Bonagura , V , Bruel , A , Brunet , T , Brunner , H G , Chew , H B , Chrast , J , Cimbalistienė , L , Coon , H , study , T DDD , Délot , E C , Démurger , F , Denommé-Pichon , A-S , Depienne ....

العلاقة: https://research.manchester.ac.uk/en/publications/852f1155-ef4a-453c-8289-2881abeab005Test

الإتاحة: https://doi.org/10.1101/2020.10.23.352278Test
https://research.manchester.ac.uk/en/publications/852f1155-ef4a-453c-8289-2881abeab005Test
http://europepmc.org/abstract/PPR/PPR229744Test

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9

دورية أكاديمية

Adolescence is the starting point of sex-dichotomous COMT genetic effects

المؤلفون: Sannino S., Padula M. C., Manago F., Schaer M., Schneider M., Armando M., Scariati E., Sloan-Bena F., Mereu M., Pontillo M., Vicari S., Contarini G., Chiabrera C., Pagani M., Gozzi A., Eliez S., Papaleo F.

المساهمون: Sannino, S., Padula, M. C., Manago, F., Schaer, M., Schneider, M., Armando, M., Scariati, E., Sloan-Bena, F., Mereu, M., Pontillo, M., Vicari, S., Contarini, G., Chiabrera, C., Pagani, M., Gozzi, A., Eliez, S., Papaleo, F.

العلاقة: volume:7; issue:5; numberofpages:e1141; journal:TRANSLATIONAL PSYCHIATRY; https://hdl.handle.net/20.500.11771/25658Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85026424530

الإتاحة: https://doi.org/20.500.11771/25658Test
https://doi.org/10.1038/tp.2017.109Test
https://hdl.handle.net/20.500.11771/25658Test

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