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  1. 12261
    “…Duplications of 15q11.2-13.1 (Dup15q syndrome) are highly penetrant for neurodevelopmental disorders (NDDs) such as intellectual disability and ASD, as well as sleep disturbances. …”
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    Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome
  2. 12262
    “…Down syndrome (DS) is the leading genetic cause of intellectual disability and causes early-onset dementia and cerebellar hypoplasia. …”
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    Forebrain Shh overexpression improves cognitive function and locomotor hyperactivity in an aneuploid mouse model of Down syndrome and its euploid littermates
  3. 12263
    “…BACKGROUND: Deletions and duplications of the multigenic 16p11.2 and 22q11.2 copy number variant (CNV) regions are associated with brain-related disorders including schizophrenia, intellectual disability, obesity, bipolar disorder, and autism spectrum disorder (ASD). …”
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    Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
  4. 12264
    por Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman(, Shamima, Chinnery, Patrick F, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Tucci, Arianna, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M
    Publicado 2021
    “…Most diagnoses were non-mitochondrial disorders and included developmental disorders with intellectual disability, epileptic encephalopathies, other metabolic disorders, cardiomyopathies, and leukodystrophies. …”
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    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
  5. 12265
    por Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., Rubboli, Guido
    Publicado 2021
    “…Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. …”
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    PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
  6. 12266
    “…This study characterized students’ physical, intellectual, emotional, and social well-being during DPPs. …”
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    Student well-being during dedicated preparation for USMLE Step 1 and COMLEX Level 1 exams
  7. 12267
    “…All participants underwent evaluation of their intellectual function, and behavioural data were collected via parent questionnaires. …”
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    Delineating the autistic phenotype in children with neurofibromatosis type 1
  8. 12268
    “…The HIS documented primary health care visits for seven MNS categories: epilepsy/seizures, alcohol/substance use disorders, mental retardation/intellectual disability, psychotic disorders, severe emotional disorders, medically unexplained somatic complaints, and other psychological complaints. …”
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    Ten years of tracking mental health in refugee primary health care settings: an updated analysis of data from UNHCR’s Health Information System (2009–2018)
  9. 12269
    “…BACKGROUND: Autism spectrum disorder (ASD) is a group of clinically heterogenic neurodevelopmental disorders, with intellectual disability being one of its common comorbidities. …”
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    Neurodevelopmental domain characteristics and their association with core symptoms in preschoolers with autism spectrum disorder in China: a nationwide multicenter study
  10. 12270
    “…BACKGROUND: Mutations in the postsynaptic transmembrane protein neuroligin-3 are highly correlative with autism spectrum disorders (ASDs) and intellectual disabilities (IDs). Fear learning is well studied in models of these disorders, however differences in fear response behaviours are often overlooked. …”
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    Imbalance of flight–freeze responses and their cellular correlates in the Nlgn3(−/y) rat model of autism
  11. 12271
    “…Additional barriers include uncertainty about the value of repurposing (n = 13), liability risks (n = 5) and intellectual property (IP) challenges (n = 26). Facilitators include the ability to form multi-partner collaborations (n = 38), access to compound databases and database screening tools (n = 32), regulatory modifications (n = 5) and tax incentives (n = 2). …”
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    Drug repurposing: a systematic review on root causes, barriers and facilitators
  12. 12272
    “…Then, the correlation between cortical thickness and the modified Cued Recall Test subscores were separately assessed in symptomatic and asymptomatic subjects, controlling for age, sex, and severity of intellectual disability. RESULTS: Compared with asymptomatic participants, those with symptomatic Alzheimer’s disease showed a pattern of cortical atrophy in posterior parieto-temporo-occipital cortices. …”
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    Neural correlates of episodic memory in adults with Down syndrome and Alzheimer’s disease
  13. 12273
    por Zhang, Hao, Feng, Ting
    Publicado 2022
    “…Gene-disease association network analysis revealed that the DEGs were closely associated with intellectual disability and cerebellar ataxia. Drug-target enrichment analysis showed that the relevant drugs targeting the hub genes CACNA2D1, CACNA1A, CACNA1E, KCNA2 and KCNA5 were gabapentin, gabapentin enacarbil, pregabalin, guanidine hydrochloride and 4-aminopyridine. …”
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    Network-Based Data Analysis Reveals Ion Channel-Related Gene Features in COVID-19: A Bioinformatic Approach
  14. 12274
    por Cnossen, Marjon H., van Moort, Iris, Reitsma, Simone H., de Maat, Moniek P. M., Schutgens, Roger E. G., Urbanus, Rolf T., Lingsma, Hester F., Mathot, Ron A. A., Gouw, Samantha C., Meijer, Karina, Bredenoord, Annelien L., van der Graaf, Rieke, Fijnvandraat, Karin, Meijer, Alexander B., van den Akker, Emile, Bierings, Ruben, Eikenboom, Jeroen C. J., van den Biggelaar, Maartje, de Haas, Masja, Voorberg, Jan, Leebeek, Frank W. G., Cnossen, Marjon H., Reitsma, Simone H., de Haas, Masja, van den Biggelaar, Maartje, Leebeek, Frank W. G., Voorberg, Jan, de Maat, Moniek P. M., Schutgens, Roger E. G., Urbanus, Rolf T., Lingsma, Hester F., Mathot, Ron A. A., Gouw, Samantha C., Meijer, Karina, Bredenoord, Annelien L., van der Graaf, Rieke, Fijnvandraat, Karin, Meijer, Alexander B., van den Akker, Emile, Bierings, Ruben, Eikenboom, Jeroen C. J., van Moort, Iris, Arisz, Ryanne A., Zivkovic, Minka, van Hoorn, E. Shannon, Bukkems, Laura H., Goedhart, Tine M. C. H. J., Romano, Lorenzo G. R., Al Arashi, Wala, Cloesmeijer, Michael E., Janssen, Alexander, Brands, Martijn R., Baas, Lieke, del Castillo Alferez, Jessica, Zhang, Huan, Laan, Sebastiaan N. J., Boender, Johan, van der Bom, Johanna G., Bos, Mettine H. A., Burdorf, Lex, Coppens, Michiel, Driessens, Mariette, Fischer, Kathelijne F., Haverman, Lotte, Hazelzet, Jan A., Huisman, Elise J., Jansen, Natalie, de Jong, Sean, Kruip, Marieke, van Leeuwen, Nikki, van der Meer, Felix, Meijer, Stephan, van Amstel, Hans Kristian Ploos, Polinder, Suzanne, Schols, Saskia E. M., Wijfjes, Guus, Kluft, Kees, van Heerde, Waander L., Goedhart, Geertje, Uyl, Carin, Timp, Jasmijn, Stekelenburg, Anke, Moenen, Floor, Ypma, Paula, Nieuwenhuizen, Laurens, Plat, Arnoud
    Publicado 2022
    “…Importantly, collaborations between patients and talented researchers from different areas of expertise promise to augment the impact of the SYMPHONY consortium, leading to unique interactions and intellectual property. CONCLUSIONS: SYMPHONY will perform research on all aspects of care, treatment individualization in patients with inborn bleeding disorders, as well as diagnostic innovations and results of molecular genetics and cellular model technology with regard to the hemostatic process. …”
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    SYMPHONY consortium: Orchestrating personalized treatment for patients with bleeding disorders
  15. 12275
    “…A male patient presented with a unique complex phenotype including panhypopituitarism, short stature with failure to respond to GH [IGF-1 generation test: no response to 2.8 mg/m(2)/day GH], sensorineural deafness, hypoparathyroidism, retinal dystrophy, and intellectual disability. He was 127cm tall at the age of 21 and was completely prepubertal (LH 0.8 U/L, FSH 2.6 U/L, Testosterone <0.69 nmol/L) with a bone age of 12 years. …”
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    RF13 | PMON48 A novel missense variant in the gene encoding Fatty Acid Synthase (FASN) associated with a unique multi-system disorder including hypopituitarism and hypoparathyroidism
  16. 12276
    “…METHODS: Between 255 and 488 participants aged 6–30 years with autism, typical development and/or mild intellectual disability completed the Karolinska Directed Emotional Faces task, the Reading the Mind in the Eyes Task and/or the Films Expression Task. …”
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    Facial expression recognition is linked to clinical and neurofunctional differences in autism
  17. 12277
    “…Further studies are needed to detect genetic determinants likely located in the HR-DSCR and possibly responsible for core DS features, in particular intellectual disability. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-022-01422-6.…”
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    Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association
  18. 12278
    por Assefa, Dejenu, Belachew, Tefera
    Publicado 2022
    “…It causes long-term consequences of chronic malnutrition, including as stunting, has an impact on intellectual development, and raises the risk of several infectious diseases and death. …”
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    Minimum dietary diversity and associated factors among children aged 6-23 months in Enebsie Sar Midir Woreda, East Gojjam, North West Ethiopia
  19. 12279
    “…BACKGROUND: Phenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual disability (ID), leading to diagnostic uncertainty and compromised access to autism-related support. …”
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    Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach
  20. 12280
    “…BACKGROUND: Prader–Willi syndrome (PWS) is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neuropsychomotor systems, and with behavioural and intellectual disorders. Rare disease patient registries are important scientific tools (1) to collect clinical and epidemiologic data, (2) to assess the clinical management including the diagnostic delay, (3) to improve patients’ care and (4) to foster research to identify new therapeutic solutions. …”
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    The Italian registry for patients with Prader–Willi syndrome
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