Results 81 to 90 of about 2,345,404 (292)
The group-based social skills training SOSTA-FRA in children and adolescents with high functioning autism spectrum disorder - study protocol of the randomised, multi-centre controlled SOSTA - net trial [PDF]
, 2013 Background: Group-based social skills training (SST) has repeatedly been recommended as treatment of choice in high-functioning autism spectrum disorder (HFASD). To date, no sufficiently powered randomised controlled trial has been performed to establish Christine M Freitag, Elsuni, Leyla, Leyla Elsuni, Stephan Bender, Meinhard Kieser, Cholemkery, Hannah, Hannah Cholemkery, Kroeger, Anne K., Anne K Kroeger, Kieser, Meinhard, Bender, Stephan, Freitag, Christine M., Kunz, Cornelia Ursula, Cornelia Ursula Kunz +13 morecore +1 more sourceRefining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson +6 morewiley +1 more sourceClassification of autism spectrum disorder using supervised learning of brain connectivity measures extracted from synchrostates
, 2014 Objective. The paper investigates the presence of autism using the functional brain connectivity measures derived from electro-encephalogram (EEG) of children during face perception tasks. Approach.Oprescu, Ioana-Anastasia, Das, Saptarshi, Maharatna, Koushik, Sicca, Federico, Jamal, Wasifa, Apicella, Fabio +5 morecore +1 more sourceCerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour +7 morewiley +1 more sourceMusculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman +6 morewiley +1 more sourceA novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder [PDF]
, 2011 Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social ...Guter, Stephen J., Cuccaro, Michael L., Buxbaum, Joseph D, McDougle CJ, Pericak-Vance, M.A., Hilary Coon, Simon Wallace, Gillberg, C, Coon, H., Magalhaes, Tiago, Richard Anney, Parrini, Barbara, Nadia Bolshakova, Foley, S, Van Engeland, H, Sabine M. Klauck, Casey, Jillian P, Louise Gallagher, Gill, Christopher, Zwaigenbaum, Lonnie, McGrath, J., Ann Le Couteur, Anney, Ann, Hallmayer, Joachim, Piven, J., Vorstman, J.A., Tauber M, Sutcliffe, James S, Yaspan, BL, Sousa, I., Leboyer, Marion, Cali P, Munson, Jeff, Buxbaum, Joseph D., Bolshakova N, Glessner JT, Mantoulan C, Sykes, N., Vincent, J.B., Freitag, C.M., Almeida, J., Nurnberger JI Jr, Cantor RM, Foley, Suzanne, Pinto, D., White K, Roge, B., Parr JR, Vicente, Astrid, Miller J, McGrath J, Gillian Hughes, Holt R, Veronica J. Vieland, Hallmayer, J, McDougle, CJ, Hakonarson, Hakon, Bourgeron, T, de Jonge, M., Duque, Fred, Van Engeland, Herman, Fombonne E, Betancur C, Pagnamenta, A.T., Magalhaes, T, Poustka, F., Mantoulan, C., Papanikolaou K, Piven J, Regan, R, McMahon, W.M., Regina Regan, Regan R, White, K, Folstein, Susan E., Anney, R., Folstein, Susan E, Vicente, Astrid M., Gallagher L, Abrahams, B.S., Green, J., Hallmayer J, Posey, DJ, Wang, K., Stephen W. Scherer, Maïté Tauber, Agatino Battaglia, Rutter ML, Delorme, R, Jeff Munson, Jiannis Ragoussis, Soorya, L., Coon H, Rutter, Michael L., Yaspan, B.L., Klauck, Sabine M., John I. Nurnberger, Scherer, SW, Marshall, Christian R., Anthony J. Bailey, Anthony P. Monaco, Klauck, Sabine M, Yaspan BL, Annemarie Poustka, Joachim Hallmayer, Shields, Denis C., Wassink, T.H., Bridget A. Fernandez, Stoppioni, V., Stoppioni, V, Magalhães, Tiago R., Ragoussis, J., Shields, D.C., Oliveira, G, Bailey, Anthony J, Bennett L. Leventhal, Fernandez, B.A., John B. Vincent, Catalina Betancur, Marion Leboyer, Bolshakova, Nadia, Vincent, John B, Cantor, R.M., Leventhal, B.L., Scherer, Stephen W, Peter Szatmari, Gilbert, John, Farrar, P., Christina Corsello, Helen McConachie, Gilbert J, Haines, Jonathan L., Cook, E.H., Casey JP, Vanessa Hus, Wijsman, Ellen M, Magalhaes, T., Tauber, M., Estes, A., Almeida J, Berney, Tom, et al., Hakonarson, H., Igliozzi, R, McConachie H, Gillberg, Christopher, Nurnberger, John I., Jr., Bolton, PF, Le Couteur, Ann, Holt, Richard, Folstein, S.E., William M. McMahon, Berney, T, Delorme R, Buxbaum JD, Wijsman, E.M., Baird, G, Munson, J., Casey, JP, Gilbert, J, McConachie, H., Bailey AJ, Hughes, G., Lord, Catherine, Thompson, Ann P., Poustka, Annemarie, Mantoulan, Carine, Vincent, John B., Volkmar, F., Gilbert, J., Janine A. Lamb, Vieland, V.J., Bourgeron, Thomas, Vieland, VJ, Marshall, CR, Schellenberg, Gerard D., Penny Farrar, Zwaigenbaum, L, Merikangas, A, Coutanche, M, Shah N, Rutter, Michael L.; id_orcid, Bacchelli, Elena, Bacchelli, E, Wing, K., Freitag CM, Nelson SF, Schellenberg GD, Alison Merikangas, Coutanche, M., Corsello C, David J. Posey, Wijsman, Ellen M., Wing, Kirsty, Pickles, A, Scherer, Stephen W., Nygren, Gudrun, Folstein SE, Leboyer M, McConachie, H, Parrini, B, de Jonge, M, Le Couteur, A., Guter SJ, Bolshakova, N, Rutter, M.L., Lamb, Janine A.; id_orcid, Szatmari P, Cantor, RM, Gallagher, L., Parrini B, Betancur, C, Papanikolaou, Katerina, Sutcliffe, JS, Schellenberg, G.D., McMahon, William M., Sutcliffe, J.S., Pickles, A., Farrar P, Glessner, JT, Gill, M, Lund, SC, Vincent, JB, Correia, C, Anney R, Monaco, Anthony P., Gillberg, C., Haines, J.L., Sousa I, Igliozzi R, Marshall, C.R., Jillian P. Casey, Tsiantis, J, Lund, Sabata C, Sykes, N, Green, Jonathan; id_orcid, Bolton, P.F., Stoppioni, Vera, Cook, Edwin H., Szatmari, Peter, Green, Andrew, Soorya, L, Parrini, B., Dawson G, Wijsman, EM, Couteur, Ann Le, Wittemeyer K, Papanikolaou, K., Jeremy R. Parr, Ennis, Sean, Duketis E, Volkmar F, Vincent JB, Igliozzi, Roberta, Ann P. Thompson, Merikangas, A., Foley S, Cali, Phil, Guter, S.J., Maestrini, Elena, White, K., McGrath, J, Geschwind, D.H., Christopher J. McDougle, Posey DJ, Coutanche, Marc, Sousa, I, Alexander Kolevzon, Wassink, Thomas H, Ragoussis, Jiannis, Yaspan, Brian L., James S. Sutcliffe, Shields DC, Thompson, AP, Minopoli, F., Vieland VJ, Hakonarson, H, Corsello, C, Mantoulan, C, Cuccaro, Michael L, Leventhal BL, Brennan S, Estes, Ann, Mirza, Ghazala K., Pagnamenta, AT, Dawson, Geraldine, Vieland, Veronica J, Ragoussis J, Vicente, A, Nygren, Gudrun,, Thomson, Susanne, Farrar, P, McDougle, Christopher J., Glessner, J.T., Mcmahon, William M, Tancredi R, Nurnberger, JI, Kim, C, Lamb, J.A., Battaglia A, Sean Brennan, Poustka, A., Conroy JM, Kirsty Wing, Abrahams BS, Sequeira, AF, Tancredi, Raffaella, Catarina Correia, Posey, D.J., Coon, Hilary, Rita M. Cantor, Stanley F. Nelson, Bailey, A.J., McMahon, WM, Conroy, Judith M, Judith Miller, Tancredi, R, Casey, J.P., Jonathan L. Haines, Gillberg C, Duketis, E, Brennan, S, Freitag, Christine M., Wassink TH, Buxbaum, J.D., Battaglia, A., Mirza, Ghazala K, Jane McGrath, Fernandez, Bridget A., Cantor, Rita M., Catherine Lord, Delorme, Richard, Gillberg, Christopher,, Pinto, Dalila, Wallace, Simon, Nelson, Stanley F, Miller, J, Berney T, Cecilia Kim, Gill, Michael, McMahon WM, Coon, H, Joseph Piven, Elena Maestrini, Gerard D. Schellenberg, Freitag, Christine M, Lord C, Vorstman, Jacob A. S., Battaglia, A, Rutter, ML, Correia, Catarina, Nygren G, Ennis, S, Margaret A. Pericak-Vance, Kolevzon, A, Kolevzon A, Fombonne, E., Bernadette Roge, Cuccaro ML, Anney, Richard, Holt, R., Berney, T., Baird G, Casey, Jillian P., de Jonge M, Cali, P., Vorstman, Jacob AS, Hus, V., Lord, C, Van Engeland, H., Glessner, Joseph T, Raffaella Tancredi, Vera Stoppioni, Andrew Pickles, Fernandez, Bridget A, Edwin H. Cook, Rutter, Michael L, Lonnie Zwaigenbaum, Lund, Sabata C., Sequeira, Ana F., Klauck, SM, Van Engeland H, Vorstman JA, Eric Fombonne, Kathy White, Tsiantis, J., Pagnamenta, Alistair T., Maretha de Jonge, Almeida, Joana, Wallace, S, Stephen J. Guter, Leboyer, M., Tom Berney, Daniel H. Geschwind, Volkmar, F, Munson, J, Thompson, Ann P, Baird, G., Glessner, Joseph T., Wang, K, Foley, S., Holt, R, Engeland, Herman van, Pickles A, Green A, Ennis, S., Nurnberger, John I., Dawson, G, Joseph D. Buxbaum, Fiorella Minopoli, Conroy, Judith M., Green J, Geschwind, Daniel H, Pickles, Andrew, Bacchelli, E., Roge, B, Monaco, A.P., Nurnberger, J.I. Jr, Guter, SJ, Bolshakova, N., Poustka, A, Christopher Gillberg, Guiomar Oliveira, Szatmari, P., Poustka, F, Bolton, Patrick F., Thompson, A.P., Nygren, G, Ana F. Sequeira, Maestrini, E, Regan, Regina, Thompson AP, Latha Soorya, Bailey, Anthony J., Bourgeron, T., Duque, F., Gill M, Mirza GK, Fernandez, BA, Christian R. Marshall, Geschwind, DH, Duque, F, Fred Volkmar, Hus, Vanessa, Ghazala K. Mirza, Ellen M. Wijsman, Posey, David J., Kolevzon, A., Klauck, S.M., Duketis, Eftichia, Roberta Igliozzi, Glessner, Joseph, Mirza, GK, Monaco, AP, Piven, Joseph, Leventhal, BL, Soorya, Latha, Hallmayer, J., Soorya L, Yaspan, Brian L, Abrahams, Brett S., Sykes N, Hakonarson H, Stoppioni V, Pericak-Vance, Margaret A., Thomas Bourgeron, Haines, Jonathan L, Abrahams, BS, Astrid Vicente, Brett S. Abrahams, McGrath, Jane, Fombonne, E, Wittemeyer, K, Gill, M., Tauber, Maïté, Wallace S, Leboyer, M, Nelson, Stanley F., Papanikolaou, K, Lund SC, Geraldine Dawson, Cook, Edwin H, Roge, Bernadette, Sykes, Nuala, Marshall, Christian R, Hughes, G, Alistair T. Pagnamenta, Duketis, E., Pericak-Vance, Margaret A, Wing, K, Pagnamenta AT, Brian L. Yaspan, Cali, P, Herman Van Engeland, Sutcliffe, James S., Estes, A, Correia, C., Folstein, SE, Sutcliffe JS, Joana Almeida, Guter, Stephen J, Joseph T. Glessner, Gillian Baird, Shah, Naisha, Fernandez BA, Frederico Duque, Oliveira G, Annette Estes, Lamb, Janine A., Schellenberg, Gerard D, Wittemeyer, K., Dawson, G., Kerstin Wittemeyer, Tauber, M, Sequeira AF, Brennan, S., Schellenberg, GD, Cantor, Rita M, Green, Jonathan, Zwaigenbaum, L., Elena Bacchelli, Christine M. Freitag, Tancredi, R., Fritz Poustka, Sequeira, Ana F, Hughes G, Lamb, JA, Thomas H. Wassink, Nurnberger, John I, Ennis S., Nelson, SF, Kim, Cecilia, Parr, Jeremy R., Sequeira, A.F., Lamb JA, Duque, Frederico, Brennan, Sean, Richard Delorme, Sousa, Inês, Klauck SM, Parr, JR, Estes, Annette, Katerina Papanikolaou, Gallagher, L, Sabata C. Lund, Phil Cali, Igliozzi, R., Cuccaro, Michael, Pericak-Vance, MA, Mirza, G.K., Tsiantis, John, Kai Wang, Hus, V, Betancur, Catalina, Kim C, Susan E. Folstein, Haines, JL, Geschwind, Daniel H., Corsello, Christina, Leventhal, Bennett L, Baird, Gillian, Oliveira, G., Leventhal, Bennett L., Wassink, TH, Wassink, Thomas H., Dalila Pinto, Inês Sousa, Minopoli, Fiorella, Bourgeron T, Marshall CR, Jonge, Maretha de, Cuccaro, ML, De Jonge, Maretha, Szatmari, P, McConachie, Helen, Thomson S, Kim, C., Piven, J, Fombonne, Eric, Cook, EH, Jacob A. S. Vorstman, Hakon Hakonarson, Gudrun Nygren, Denis C. Shields, Thomson, S, Roge B, Munson J, Rutter, Michael, Estes A, Barbara Parrini, Magalhaes T, Kolevzon, Alexander, Buxbaum, JD, Green, A., Nelson, S.F., Suzanne Foley, John Gilbert, Shields, Denis C, Corsello, C., Poustka, Fritz, Posey, David J, Michael L. Cuccaro, Bolton, Patrick F, Poustka F, Merikangas A, Green, J, Monaco, Anthony P, Jonathan Green, Vicente, A.M., White, Kathy, Gallagher, Louise, Andrew Green, Correia C, Wang K, McDougle, C.J., Wijsman EM, Pericak-Vance, Margaret Ann, Pericak Vance MA, Vicente A, Cuccaro, M.L., Lamb, Janine A, Anney, R, Poustka A, Lord, C., Green, A, Conroy, JM, Coutanche M, Cook EH, Tiago Magalhaes, Pagnamenta, Alistair T, Duque F, Patrick F. Bolton, Shah, N., Parr, J.R., Eftichia Duketis, Nygren, G., Zwaigenbaum L, Le Couteur, A, Hus V, Wallace, S., Miller, Judith, Abrahams, Brett S, Pinto D, Pinto, D, Maestrini, E., Ragoussis, J, Wang, Kai, Michael Gill, Regan, R., Parr, Jeremy R, Minopoli, F, Sean Ennis, Almeida, J, Conroy, Judith, Vieland, Veronica J., Conroy, J.M., John Tsiantis, Haines JL, Nuala Sykes, Scherer SW, Delorme, R., Richard Holt, Mcdougle, Christopher J, Oliveira, Guiomar, Freitag, CM, Shah, N, Lund, S.C., Marc Coutanche, Merikangas, Alison, Scherer, S.W., Michael L. Rutter, Battaglia, Agatino, Geschwind DH, Monaco AP, Gill, Gillian, Vorstman, Jacob A S, Judith M. Conroy, Susanne Thomson, Farrar, Penny, Bailey, AJ, Hughes, Gillian, Wing K, Volkmar, Fred, Betancur, C., Tsiantis J, Thomson, S., Bolton PF, Vorstman, JA, Casey, Jillian, Carine Mantoulan, Shields, DC, Le Couteur A, Naisha Shah, Wittemeyer, Kerstin, Miller, J. +694 morecore +1 more sourceGenotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul +9 morewiley +1 more source