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Translational Genetic Modelling of 3D Craniofacial Dysmorphology: Elaborating the Facial Phenotype of Neurodevelopmental Disorders Through the “Prism” of Schizophrenia
Waddington, John L., Katina, Stanislav, O’Tuathaigh, Colm M. P., Bowman, Adrian W.
Published in Current behavioral neuroscience reports (01.12.2017)
Published in Current behavioral neuroscience reports (01.12.2017)
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Validation of the PDMS-2 scale in the Spanish population. Evaluation of physiotherapy intervention and parental involvement in the treatment of children with neurodevelopmental disorders
Álvarez-Gonzalo, V, Pandiella-Dominique, A, Kürlander-Arigón, G, Simó-Segovia, R, Caballero, F F, Miret, M
Published in Revista de neurologiá (01.08.2021)
Published in Revista de neurologiá (01.08.2021)
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Neurodevelopmental disorders in children born to mothers with systemic lupus erythematosus
Vinet, É, Pineau, CA, Clarke, AE, Fombonne, É, Platt, RW, Bernatsky, S
Published in Lupus (01.10.2014)
Published in Lupus (01.10.2014)
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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
Konrad, Enrico D. H., Nardini, Niels, Caliebe, Almuth, Nagel, Inga, Young, Dana, Horvath, Gabriella, Santoro, Stephanie L., Shuss, Christine, Ziegler, Alban, Bonneau, Dominique, Kempers, Marlies, Pfundt, Rolph, Legius, Eric, Bouman, Arjan, Stuurman, Kyra E., Õunap, Katrin, Pajusalu, Sander, Wojcik, Monica H., Vasileiou, Georgia, Le Guyader, Gwenaël, Schnelle, Hege M., Berland, Siren, Zonneveld-Huijssoon, Evelien, Kersten, Simone, Gupta, Aditi, Blackburn, Patrick R., Ellingson, Marissa S., Ferber, Matthew J., Dhamija, Radhika, Klee, Eric W., McEntagart, Meriel, Lichtenbelt, Klaske D., Kenney, Amy, Vergano, Samantha A., Abou Jamra, Rami, Platzer, Konrad, Ella Pierpont, Mary, Khattar, Divya, Hopkin, Robert J., Martin, Richard J., Jongmans, Marjolijn C. J., Chang, Vivian Y., Martinez-Agosto, Julian A., Kuismin, Outi, Kurki, Mitja I., Pietiläinen, Olli, Palotie, Aarno, Maarup, Timothy J., Johnson, Diana S., Venborg Pedersen, Katja, Laulund, Lone W., Lynch, Sally A., Blyth, Moira, Prescott, Katrina, Canham, Natalie, Ibitoye, Rita, Brilstra, Eva H., Shinawi, Marwan, Fassi, Emily, Sticht, Heinrich, Gregor, Anne, Van Esch, Hilde, Zweier, Christiane
Published in Genetics in medicine (01.12.2019)
Published in Genetics in medicine (01.12.2019)
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Prevalence and comorbidities of autism among children referred to the outpatient clinics for neurodevelopmental disorders
Mpaka, Davin Mbeya, E-Andjafono, Daniel Luwa, Ndjukendi, Ally Omba, Mankubu N’situ, Adelin, Kinsala, Sebastien Yabassi, Mukau, Joachim Ebwel, Ngoma, Valentin Malanda, Kashala-Abotenes, Esperance, Ma-Miezi-Mampunza, Samuel, Vogels, Annick, Steyaert, Jeans
Published in The Pan African medical journal (2016)
Published in The Pan African medical journal (2016)
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A social robot connected with chatGPT to improve cognitive functioning in ASD subjects
Bertacchini, Francesca, Demarco, Francesco, Scuro, Carmelo, Pantano, Pietro, Bilotta, Eleonora
Published in Frontiers in psychology (05.10.2023)
Published in Frontiers in psychology (05.10.2023)
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Neuroimaging findings in newborns with congenital heart disease prior to surgery: an observational study
Kelly, Christopher J, Arulkumaran, Sophie, Tristão Pereira, Catarina, Cordero-Grande, Lucilio, Hughes, Emer J, Teixeira, Rui Pedro A G, Steinweg, Johannes K, Victor, Suresh, Pushparajah, Kuberan, Hajnal, Joseph V, Simpson, John, Edwards, A David, Rutherford, Mary A, Counsell, Serena J
Published in Archives of disease in childhood (01.11.2019)
Published in Archives of disease in childhood (01.11.2019)
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Psychometric properties of the Greek version of Affective Lability Scale - Short Form (ALS-18) in a sample of adults with neurodevelopmental disorders
Kalantzi, Eva, Pehlivanidis, Artemios, Korobili, Kalliopi, Mantas, Vasilis, Papageorgiou, Charalabos
Published in Psychiatrikē (19.09.2022)
Published in Psychiatrikē (19.09.2022)
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Linking Kawasaki Disease to Mental Health: A Nationwide Study on Long-Term Neurological Risks
Lee, Ji-Ho, Shin, Taewoo, Park, Jung-Min, Seol, Jae-Hee
Published in Medicina (Kaunas, Lithuania) (26.03.2025)
Published in Medicina (Kaunas, Lithuania) (26.03.2025)
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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva H., Boni, Stefania, Mazzanti, Laura, Tamburrino, Federica, Walsh, Larry, Payne, Katelyn, Fernández-Jaén, Alberto, Ganapathi, Mythily, Chung, Wendy K., Grange, Dorothy K., Dave-Wala, Ashita, Reshmi, Shalini C., Bartholomew, Dennis W., Mouhlas, Danielle, Carpentieri, Giovanna, Bruselles, Alessandro, Pizzi, Simone, Bellacchio, Emanuele, Piceci-Sparascio, Francesca, Lißewski, Christina, Brinkmann, Julia, Waclaw, Ronald R., Waisfisz, Quinten, van Gassen, Koen, Wentzensen, Ingrid M., Morrow, Michelle M., Álvarez, Sara, Martínez-García, Mónica, De Luca, Alessandro, Memo, Luigi, Zampino, Giuseppe, Rossi, Cesare, Seri, Marco, Gelb, Bruce D., Zenker, Martin, Dallapiccola, Bruno, Stella, Lorenzo, Prada, Carlos E., Martinelli, Simone, Flex, Elisabetta, Tartaglia, Marco
Published in American journal of human genetics (03.09.2020)
Published in American journal of human genetics (03.09.2020)
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White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects
Facchini, Anna, Concas, Maria Pina, Zampieri, Stefania, Scala, Iris, Graziano, Claudio, Innoceta, Anna Maria, Trivisano, Marina, De Dominicis, Angela, Trimarchi, Gabriele, Garavelli, Livia, Baldassarri, Margherita, De Maggio, Ilaria, Mari, Francesca, Greco, Donatella, Gasparini, Paolo
Published in Clinical genetics (23.07.2025)
Published in Clinical genetics (23.07.2025)
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Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Lowther, Chelsea, Speevak, Marsha, Armour, Christine M., Goh, Elaine S., Graham, Gail E., Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata J.M., Schultz, Lee-Anne, Morra, Antonella, Nicolson, Rob, Bikangaga, Peter, Samdup, Dawa, Zaazou, Mostafa, Boyd, Kerry, Jung, Jack H., Siu, Victoria, Rajguru, Manjulata, Goobie, Sharan, Tarnopolsky, Mark A., Prasad, Chitra, Dick, Paul T., Hussain, Asmaa S., Walinga, Margreet, Reijenga, Renske G., Gazzellone, Matthew, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Stavropoulos, Dimitri J., McCready, Elizabeth, Bassett, Anne S.
Published in Genetics in medicine (01.01.2017)
Published in Genetics in medicine (01.01.2017)
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Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy
Buchignani, Bianca, Coratti, Giorgia, Cutrì, Chiara, Scattoni, Maria Luisa, Pane, Marika, Palermo, Concetta, Leone, Daniela, De Sanctis, Roberto, Stanca, Giulia, Antonaci, Laura, Cutrona, Costanza, Pera, Maria Carmela, Brogna, Claudia, Cristofani, Paola, Fulceri, Francesca, Baranello, Giovanni, Mercuri, Eugenio
Published in Scientific reports (24.07.2025)
Published in Scientific reports (24.07.2025)
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Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency
Politano, Davide, Mancini, Cecilia, Celario, Massimiliano, Radio, Francesca Clementina, D'Abrusco, Fulvio, Garau, Jessica, Kalantari, Silvia, Visani, Gaia, Carbonera, Simone, Gana, Simone, Ferilli, Marco, Chiriatti, Luigi, Cappelletti, Camilla, Ellena, Katia, Prodi, Elena, Borgatti, Renato, Valente, Enza Maria, Orcesi, Simona, Tartaglia, Marco, Sirchia, Fabio
Published in Genes (02.07.2025)
Published in Genes (02.07.2025)
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Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
Maroofian, Reza, Sedmík, Jiří, Mazaheri, Neda, Scala, Marcello, Zaki, Maha S, Keegan, Liam P, Azizimalamiri, Reza, Issa, Mahmoud, Shariati, Gholamreza, Sedaghat, Alireza, Beetz, Christian, Bauer, Peter, Galehdari, Hamid, O’Connell, Mary A, Houlden, Henry
Published in Journal of medical genetics (01.07.2021)
Published in Journal of medical genetics (01.07.2021)
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De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
Singh, Sakshi, Gupta, Aditi, Zech, Michael, Sigafoos, Ashley N., Clark, Karl J., Dincer, Yasemin, Wagner, Matias, Humberson, Jennifer B., Green, Sarah, van Gassen, Koen, Brandt, Tracy, Schnur, Rhonda E., Millan, Francisca, Si, Yue, Mall, Volker, Winkelmann, Juliane, Gavrilova, Ralitza H., Klee, Eric W., Engleman, Kendra, Safina, Nicole P., Slaugh, Rachel, Bryant, Emily M., Tan, Wen-Hann, Granadillo, Jorge, Misra, Sunita N., Schaefer, G. Bradley, Towner, Shelley, Brilstra, Eva H., Koeleman, Bobby P. C.
Published in Genetics in medicine (01.08.2020)
Published in Genetics in medicine (01.08.2020)
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Autism – A brief update
Skjeldal, Ola Hunsbeth, Isaksen, Jørn
Published in Translational science of rare diseases (30.09.2023)
Published in Translational science of rare diseases (30.09.2023)
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