Results 11 to 20 of about 996,273 (286)

Behavioural and physiological responses to stressors in sheep with temperament classified by genotype or phenotype

Scientific Reports
The single nucleotide polymorphism (SNP) rs107856856, located in the tryptophan hydroxylase-2 gene, is associated with the behavioural phenotype for sheep temperament measured at weaning. Here, we tested the association between that SNP and physiological
Yuri Kitagawa, Shane K. Maloney, Kelsey R. Pool, Dane Webster, Satoshi Ohkura, Dominique Blache, Luoyang Ding   +6 more
doaj   +2 more sources

Toward a behavioural phenotype for Sotos syndrome [PDF]

, 2011
This volume is the research component and contains three papers. The first paper is a review of the literature from 1980 to the present day, which has examined intellectual, behavioural and psychological characteristics in participants with Sotos ...
Hyland, Sarah Louise
core   +7 more sources

Refining the behavioural phenotype of Angelman syndrome [PDF]

, 2014
Angelman syndrome is associated with distinctive behavioural characteristics including frequent laughing and smiling, heightened motivation for adult attention, sensory seeking, aggression and impaired learning.
Heald, Mary Elizabeth
core   +5 more sources

Activity, social and sexual behaviour in Red Junglefowl selected for divergent levels of fear of humans. [PDF]

PLoS ONE, 2018
The domesticated phenotype is a set of behavioural, morphological and physiological traits that is common for domesticated species. Previous research has found that selection for tameness only can give rise to correlated selection responses that resemble
Rebecca Katajamaa, Lovisa H Larsson, Paulina Lundberg, Ida Sörensen, Per Jensen   +4 more
doaj   +1 more source

MBD5 regulates NMDA receptor expression and seizures by inhibiting Stat1 transcription

Neurobiology of Disease, 2023
Epilepsy is considered to result from an imbalance between excitation and inhibition of the central nervous system. Pathogenic mutations in the methyl-CpG binding domain protein 5 gene (MBD5) are known to cause epilepsy.
Feng-lin Tang, Xiao-gang Zhang, Ping-yang Ke, Jie Liu, Zhi-juan Zhang, Dan-mei Hu, Juan Gu, Hui Zhang, Hao-kun Guo, Qian-wen Zang, Rui Huang, Yuan-lin Ma, Patrick Kwan   +12 more
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The Role of Dopamine Replacement on the Behavioural Phenotype of Parkinson’s Disease [PDF]

Behavioural Neurology, 2013
Hajar Alobaidi, Hardev Pall
doaj   +2 more sources

Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description

Journal of Neurodevelopmental Disorders, 2022
Background SYNGAP1-related intellectual disability (ID) is a recently described neurodevelopmental disorder that is caused by pathogenic variation in the SYNGAP1 gene. To date, the behavioural characteristics of this disorder have mainly been highlighted
Damien Wright, Aisling Kenny, Sarah Eley, Andrew G. McKechanie, Andrew C. Stanfield   +4 more
doaj   +1 more source

Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach

Molecular Autism, 2023
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.
Natali Bozhilova, Alice Welham, Dawn Adams, Stacey Bissell, Hilgo Bruining, Hayley Crawford, Kate Eden, Lisa Nelson, Christopher Oliver, Laurie Powis, Caroline Richards, Jane Waite, Peter Watson, Hefin Rhys, Lucy Wilde, Kate Woodcock, Joanna Moss   +16 more
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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. [PDF]

, 2013
The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities and 13,326 subclass relations ...
Smith, C.L., Brown, D. L., Jackson, Andrew P., Leeuw, Nicole de, Doelken, S. C., Black, G.C.M., Campbell, J., Mansour, S, Jackson, Andrew P, Kelly, Anne M., Martin, CL, Kohler, S., Martin, Christa L, Wilkie, AOM, Ruef, Barbara J., Jackson, AP, Wright, Caroline F., Girdea, M., Mungall, C. J., Park, Soo-Mi, Girdea, M, Jähn, Johanna, Eppig, J.T., Washingthon, Nicole L., Girdea, Marta, Ouwehand, W.H., Gkoutos, G. V.; id_orcid, Smith, Cynthia, Campbell, Jennifer, Black, GCM, Campbell, J, de Leeuw, N, Hurst, Jane A, Wapner, RJ, Scott, Richard H., Westerfield, M, Gkoutos, GV, Brudno, M, Robinson, Peter N., Kelly, AM, Riggs, E.R., Moss, C., Jackson, L. G., Mansour, Sahar, Doelken, S.C., Jahn, J., Wright, Caroline F, FitzPatrick, D. R., Vooren, Steven Van, Ruef, B.J., Kelly, A.M., Ruef, BJ, Scott, R. H., Washingthon, NL, Ledbetter, DH, Freson, K., FitzPatrick, DR, Smith, CL, Firth, H.V., Moss, Celia, Hurst, J. A., FitzPatrick, D.R., Haendel, M., Jackson, L.G., Eppig, J. T., Ruef, B. J., Sisodiya, S., Park, S.M., Bailleul-Forestier, Isabelle, Van Vooren, S., Jackson, Laird G, Köhler, S, Wilkie, Andrew O M, Lewis, SE, Martin, C.L., Robinson, P. N., Mumford, A, Gkoutos, Georgios V., Smedley, Damian, Ouwehand, Willem H, Mumford, Andrew, Firth, Helen V, Haendel, M, Firth, H. V., Hurst, JA, Mungall, C.J., Vulto-van Silfhout, AT, Park, S-M, Doelken, Sandra C, Lewis, S. E., Brown, Danielle L., Smedley, D., Vulto-Van Silfhout, Anneke T., Park, Soo Mi, Freson, K, Wilkie, A.O., Martin, Christa L., Riggs, ER, de Vries, Bert B A, Mungall, Christopher J., Vulto-van Silfhout, Anneke T, Ouwehand, W. H., Schofield, P., Vulto-van Silfhout, A. T., Ouwehand, WH, Martin, C. L., Lewis, Suzanna E, Hurst, J.A., Firth, HV, Mungall, Christopher J, Park, S. M., Wilkie, A. O., Westerfield, M., Kelly, A. M., Helbig, Ingo, Jackson, A. P., Doelken, SC, Helbig, I., Wright, C. F., Wright, CF, Schofield, Paul, Firth, Helen V., Köhler, Sebastian, Ledbetter, D.H., Eppig, Janan T., Riggs, E. R., Fitzpatrick, David R, Doelken, Sandra C., Eppig, Janan T, Mumford, A., Vooren, S. van der, Black, G. C., Sisodiya, Sanjay, Smith, Cynthia L, Washingthon, N. L., Kelly, Anne M, Lewis, S.E., de Vries, B. B., Gkoutos, Georgios V, Moss, C, Mansour, S., Riggs, Erin Rooney, Wapner, Ronald J., Black, GC, Scott, R.H., Scott, RH, Robinson, Peter N, Helbig, I, Bauer, Sebastian, Bailleul-Forestier, I., Jähn, J, Hurst, Jane A., Wapner, R. J., Ledbetter, D. H., Jackson, A.P., Ruef, Barbara J, Westerfield, Monte, Jackson, Laird G., Lewis, Suzanna E., de Vries, BB, Fitzpatrick, David R., Vries, B. de, Black, Graeme C M, Gkoutos, G.V., de Vries, BBA, Brudno, Michael, Smith, Cynthia L., Silfhout, A.T. van, Smith, C. L., Brown, Danielle L, Ledbetter, David H, Wright, C.F., Brown, D.L., Mungall, CJ, Schofield, P, Bailleul-Forestier, I, Bauer, S., Haendel, Melissa, Robinson, P.N., Van Vooren, S, Ledbetter, David H., Eppig, JT, Washingthon, Nicole L, Smedley, D, Park, SM, Robinson, PN, Leeuw, N. de, de Leeuw, N., Scott, Richard H, Brudno, M., Jackson, LG, Wapner, R.J., Brown, DL, Wapner, Ronald J, Bauer, S, Mumford, Andrew D, Washingthon, N.L., Sisodiya, S, Freson, Kathleen, Ouwehand, Willem H., Wilkie, AO   +200 more
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Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioural intervention in Autism Spectrum Disorder

Frontiers in Human Neuroscience, 2013
Autism Spectrum Disorder (ASD) is amongst the most familial of psychiatric disorders. Twin and family studies have demonstrated a monozygotic concordance rate of 70–90%, dizygotic concordance of around 10% and more than a 20-fold increase in risk for ...
Valsamma eEapen, Valsamma eEapen, Rudi eCrncec, Amelia eWalter, Amelia eWalter   +4 more
doaj   +1 more source