-
1Academic Journal
المؤلفون: Niarchou, M., Chawner, SJRA, Doherty, J.L., Maillard, A.M., Jacquemont, S., Chung, W.K., Green-Snyder, L., Bernier, R.A., Goin-Kochel, R.P., Hanson, E., Linden, DEJ, Linden, S.C., Raymond, F.L., Skuse, D., Hall, J., Owen, M.J., Bree, MBMVD
المصدر: Translational psychiatry, vol. 9, no. 1, pp. 8
مصطلحات موضوعية: Adolescent, Attention Deficit Disorder with Hyperactivity/diagnosis, Attention Deficit Disorder with Hyperactivity/genetics, Autism Spectrum Disorder/diagnosis, Autism Spectrum Disorder/genetics, Case-Control Studies, Child, Preschool, Chromosome Duplication, Chromosomes, Human, Pair 16/genetics, DNA Copy Number Variations, Female, Heterozygote, Humans, Male, Sequence Deletion
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/30664628; info:eu-repo/semantics/altIdentifier/eissn/2158-3188; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_7215F92283AE1; https://serval.unil.ch/notice/serval:BIB_7215F92283AE; https://serval.unil.ch/resource/serval:BIB_7215F92283AE.P001/REF.pdf
-
2Academic JournalThe Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
المؤلفون: Hippolyte, L., Maillard, A.M., Rodriguez-Herreros, B., Pain, A., Martin-Brevet, S., Ferrari, C., Conus, P., Macé, A., Hadjikhani, N., Metspalu, A., Reigo, A., Kolk, A., Männik, K., Barker, M., Isidor, B., Le Caignec, C., Mignot, C., Schneider, L., Mottron, L., Keren, B., David, A., Doco-Fenzy, M., Gérard, M., Bernier, R., Goin-Kochel, R.P., Hanson, E., Green Snyder, L., Ramus, F., Beckmann, J.S., Draganski, B., Reymond, A., Jacquemont, S.
المساهمون: 16p11.2 European Consortium, Simons Variation in Individuals Project Consortium
المصدر: Biological psychiatry, vol. 80, no. 2, pp. 129-139
مصطلحات موضوعية: Adolescent, Adult, Autistic Disorder/diagnostic imaging, Autistic Disorder/genetics, Autistic Disorder/physiopathology, Child, Preschool, Chromosome Deletion, Chromosome Disorders/diagnostic imaging, Chromosome Disorders/genetics, Chromosome Disorders/physiopathology, Chromosome Duplication/genetics, Chromosomes, Human, Pair 16/genetics, Cognitive Dysfunction/diagnostic imaging, Cognitive Dysfunction/genetics, Cognitive Dysfunction/physiopathology, DNA Copy Number Variations/genetics, Executive Function/physiology, Female, Heterozygote, Humans, Intellectual Disability/diagnostic imaging, Intellectual Disability/genetics, Intellectual Disability/physiopathology, Intelligence/genetics, Language, Male, Memory/physiology
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/26742926; info:eu-repo/semantics/altIdentifier/eissn/1873-2402; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_9660DE6D30D10; https://serval.unil.ch/notice/serval:BIB_9660DE6D30D1; https://serval.unil.ch/resource/serval:BIB_9660DE6D30D1.P001/REF.pdf
-
3Academic Journal
المؤلفون: D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L.G., Hippolyte, L., Hanson, E., Maillard, A.M., Faucett, W.A., Macé, A., Pain, A., Bernier, R., Chawner, S.J., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gérard, M., Goin-Kochel, R.P., Grant, E., Hunter, J.V., Isidor, B., Jacquette, A., Jønch, A.E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C.L., Männik, 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., Beckmann, J.S., Spiro, J.E., Reymond, A., Jacquemont, S., Chung, W.K.
المساهمون: 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.
المصدر: Jama Psychiatry, vol. 73, no. 1, pp. 20-30
مصطلحات موضوعية: Adolescent, Adult, Autism Spectrum Disorder/epidemiology, Autism Spectrum Disorder/genetics, Autistic Disorder/epidemiology, Autistic Disorder/genetics, Case-Control Studies, Cerebellum/abnormalities, Child, Preschool, Chromosome Deletion, Chromosome Disorders/epidemiology, Chromosome Disorders/genetics, Chromosome Duplication, Chromosomes, Human, Pair 16/genetics, Cognition, Cohort Studies, Comorbidity, DNA Copy Number Variations, Developmental Disabilities/epidemiology, Developmental Disabilities/genetics, Epilepsy/epidemiology, Epilepsy/genetics, Female, Humans, Intellectual Disability/epidemiology, Intellectual Disability/genetics, Male
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/26629640; info:eu-repo/semantics/altIdentifier/eissn/2168-6238; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_FA7E8A43283E4; https://serval.unil.ch/notice/serval:BIB_FA7E8A43283E; https://serval.unil.ch/resource/serval:BIB_FA7E8A43283E.P001/REF.pdf
-
4Academic Journal
المؤلفون: Chawner, SJRA, Doherty, J.L., Anney, RJL, Antshel, K.M., Bearden, C.E., Bernier, R., Chung, W.K., Clements, C.C., Curran, S.R., Cuturilo, G., Fiksinski, A.M., Gallagher, L., Goin-Kochel, R.P., Gur, R.E., Hanson, E., Jacquemont, S., Kates, W.R., Kushan, L., Maillard, A.M., McDonald-McGinn, D.M., Mihaljevic, M., Miller, J.S., Moss, H., Pejovic-Milovancevic, M., Schultz, R.T., Green-Snyder, L., Vorstman, J.A., Wenger, T.L., Hall, J., Owen, M.J., van den Bree, MBM
المساهمون: IMAGINE-ID Consortium, Baker, K., Dewhurst, E., Lafont, A., Raymond, F.L., Shirley, T., Tilley, H., Timur, H., Titterton, C., Walker, N., Wallwork, S., Wicks, F., Ye, Z., Erwood, M., Andrews, S., Birch, P., Bowen, S., Bradley, K., Challenger, A., Chawner, S., Cuthbert, A., Hall, J., Holmans, P., Law, S., Lewis, N., Morrison, S., Moss, H., Owen, M., Ray, S., Sopp, M., Tong, M., van den Bree, M., Coscini, N., Davies, S., Denaxas, S., Denyer, H., Fatih, N., Juj, M., Kerry, E., Lucock, A., Mandy, W., Printzlau, F., Skuse, D., Srinivasan, R., Walker, S., Watkins, A., Wolstencroft, J., Searle, B., Pelling, A., Dean, J., Robertson, L., Williams, D., Donaldson, A., Raymond, L., Procter, A., Berg, J., Crow, Y., Lampe, A., Rankin, J., Joss, S., Chitty, L., Flinter, F., Holder, M., Kraus, A., Barwell, J., Vasudevan, P., Weber, A., Newman, W., Splitt, M., Clowes, V., van Dijk, F., Harrison, R., Kini, U., Quarrell, O., Baralle, D., Mansour, S.
المصدر: The American journal of psychiatry, vol. 178, no. 1, pp. 77-86
مصطلحات موضوعية: Autistic Disorder/diagnosis, Autistic Disorder/epidemiology, Autistic Disorder/genetics, Child, DNA Copy Number Variations/genetics, Gene Deletion, Genetic Association Studies, Genetic Predisposition to Disease/genetics, Heterozygote, Humans, Interview, Psychological, Male, Prevalence, Risk Factors, Severity of Illness Index, Autism, Copy Number Variants, Genetics
Relation: info:eu-repo/semantics/altIdentifier/pmid/33384013; info:eu-repo/semantics/altIdentifier/eissn/1535-7228; https://serval.unil.ch/notice/serval:BIB_5ECDBFBED24E
-
5Academic Journal
المؤلفون: Zufferey, F., Sherr, E.H., Beckmann, N.D., Hanson, E., Maillard, A.M., Hippolyte, L., Macé, A., Ferrari, C., Kutalik, Z., Andrieux, J., Aylward, E., Barker, M., Bernier, R., Bouquillon, S., Conus, P., Delobel, B., Faucett, W.A., Goin-Kochel, R.P., Grant, E., Harewood, L., Hunter, J.V., Lebon, S., Ledbetter, D.H., Martin, C.L., Männik, K., Martinet, D., Mukherjee, P., Ramocki, M.B., Spence, S.J., Steinman, K.J., Tjernagel, J., Spiro, J.E., Reymond, A., Beckmann, J.S., Chung, W.K., Jacquemont, S.
المساهمون: Simons VIP Consortium, 16p11.2 European Consortium, Addor, MC., Arveiler, B., Belfiore, M., Bena, F., Bernardini, L., Blanchet, P., Bonneau, D., Boute, O., Callier, P., Campion, D., Chiesa, J., Cordier, MP., Cuisset, JM., David, A., de Leeuw, N., de Vries, B., Didelot, G., Doco-Fenzy, M., Bedu, BD., Dubourg, C., Dupuis-Girod, S., Fagerberg, CR., Faivre, L., Fellmann, F., Fernandez, BA., Fisher, R., Flori, E., Goldenberg, A., Heron, D., Holder, M., Hoyer, J., Isidor, B., Jaillard, S., Jonveaux, P., Joriot, S., Journel, H., Kooy, F., le Caignec, C., Leheup, B., Lemaitre, MP., Lewis, S., Malan, V., Mathieu-Dramard, M., Metspalu, A., Morice-Picard, F., Mucciolo, M., Oiglane-Shlik, E., Ounap, K., Pasquier, L., Petit, F., Philippe, A., Plessis, G., Prieur, F., Puechberty, J., Rajcan-Separovic, E., Rauch, A., Renieri, A., Rieubland, C., Rooryck, C., Rötzer, KM., Ruiter, M., Sanlaville, D., Selmoni, S., Shen, Y., Siffredi, V., Thonney, J., Vallée, L., van Binsbergen, E., Van der Aa, N., van Haelst, MM, Vigneron, J., Vincent-Delorme, C., Vittoria, D., Vulto-van Silfhout, AT, Witwicki, RM., Zwolinski, SA., Bowe, A., Beaudet, AL., Brewton, CM., Chu, Z., Dempsey, AG., Evans, YL., Garza, S., Kanne, SM., Laakman, AL., Lasala, MW., Llorens, AV., Marzano, G., Moss, TJ., Nowell, KP., Proud, MB., Chen, Q., Vaughan, R., Berman, J., Blaskey, L., Hines, K., Kessler, S., Khan, SY.
المصدر: Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
مصطلحات موضوعية: Adolescent, Adult, Body Mass Index, Child, Child Development Disorders, Pervasive/diagnosis, Pervasive/genetics, Chromosome Deletion, Chromosomes, Human, Pair 16, Developmental Disabilities/diagnosis, Developmental Disabilities/genetics, Female, Gene Order, Heterozygote, Humans, Intelligence Tests, Male, Phenotype, Syndrome, Young Adult
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/23054248; info:eu-repo/semantics/altIdentifier/eissn/1468-6244; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_26004E3F396F2; https://serval.unil.ch/notice/serval:BIB_26004E3F396F; https://serval.unil.ch/resource/serval:BIB_26004E3F396F.P001/REF.pdf
-
6
المؤلفون: Niarchou, M., Chawner, SJRA, Doherty, J.L., Maillard, A.M., Jacquemont, S., Chung, W.K., Green-Snyder, L., Bernier, R.A., Goin-Kochel, R.P., Hanson, E., Linden, DEJ, Linden, S.C., Raymond, F.L., Skuse, D., Hall, J., Owen, M.J., van den Bree, MBM
مصطلحات موضوعية: Biological Psychiatry, Cellular and Molecular Neuroscience, Psychiatry and Mental health
Relation: info:eu-repo/semantics/altIdentifier/pissn/2158-3188; info:eu-repo/semantics/altIdentifier/pmid/30837452; https://serval.unil.ch/notice/serval:BIB_F226247C7F6B