المؤلفون: Xiaoyu Huang, Xue Rui, Shuang Zhang, Xiaolong Qi, Weining Rong, Xunlun Sheng

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: EP300 gene, Early onset high myopia, Phenotype, Rubinstein-Taybi syndrome 2, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/4233d8c88e5f4a66b53509fa79f87fa6Test

المؤلفون: Jagtap, Saylee S., Inamdar, Prithi, Pal, Rajdeep, Rai, Rajesh K.

المصدر: International Journal of Contemporary Pediatrics; Vol 9, No 11 (2022): November 2022; 1109-1111 ; 2349-3291 ; 2349-3283

مصطلحات موضوعية: Rubinstein Taybi syndrome, Genetic condition, CREBBP gene, EP300 gene

وصف الملف: application/pdf

العلاقة: https://www.ijpediatrics.com/index.php/ijcp/article/view/5088/3118Test; https://www.ijpediatrics.com/index.php/ijcp/article/downloadSuppFile/5088/5427Test; https://www.ijpediatrics.com/index.php/ijcp/article/downloadSuppFile/5088/5428Test; https://www.ijpediatrics.com/index.php/ijcp/article/downloadSuppFile/5088/5429Test; https://www.ijpediatrics.com/index.php/ijcp/article/view/5088Test

الإتاحة: https://doi.org/10.18203/2349-3291.ijcp20222630Test
https://www.ijpediatrics.com/index.php/ijcp/article/view/5088Test

المؤلفون: Paola Marchisio, Fabio Triulzi, Paola Francesca Ajmone, Sabrina Avignone, Antonella Giacobbe, Antonella Costantino, Susanna Esposito, Cristina Gervasini, Donatella Milani, Fedrico Monti

المصدر: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 177:406-415

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, 030105 genetics & heredity, Corpus callosum, Cohort Studies, 0302 clinical medicine, Multidisciplinary approach, Intellectual disability, tethered cord, MRI anomalies, Child, Genetics (clinical), Rubinstein-Taybi Syndrome, Neuropsychology, Brain, Neuropsychiatry, CREB-Binding Protein, Magnetic Resonance Imaging, Psychiatry and Mental health, Phenotype, medicine.anatomical_structure, Italy, intellectual disability, Child, Preschool, Female, medicine.medical_specialty, Adolescent, behavioral phenotype, CREBBP gene, EP300 gene, RSTS, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, medicine, Humans, EP300, Genetic Association Studies, Rubinstein–Taybi syndrome, business.industry, Infant, medicine.disease, Conus medullaris, Mutation, Cerebellar vermis, business, E1A-Associated p300 Protein, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41120119d74ab5b89cdc46402933eb8fTest
https://doi.org/10.1002/ajmg.b.32628Test

المؤلفون: Elisenda Eixarch, Sebastian Moran, Lourdes Fañanás, Fatima Crispi, Anthony S. Zannas, Helena Palma-Gudiel

المصدر: Clinical Epigenetics
Dipòsit Digital de la UB
Universidad de Barcelona

مصطلحات موضوعية: 0301 basic medicine, Multifactorial Inheritance, Epigenetic clock, Placenta, Embaràs, Physiology, Epigenesis, Genetic, 0302 clinical medicine, Pregnancy, Prospective Studies, Prospective cohort study, Hypoxia, Promoter Regions, Genetic, Genetics (clinical), DNA methylation, Mental illness, 030220 oncology & carcinogenesis, Female, Monochorionic twins, Monozygotic twins, Pregnancy Trimester, Third, 03 medical and health sciences, Genetics, medicine, Diseases in Twins, Humans, Epigenetics, EP300 gene, EP300, Molecular Biology, Fetus, business.industry, Research, Prenatal stress, Twins, Monozygotic, Oxigen, medicine.disease, Oxygen, 030104 developmental biology, Early Diagnosis, Spain, Obstetric complications, Schizophrenia, business, Malalties mentals, E1A-Associated p300 Protein, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a358879ea3460ef926bc5790c1038f1aTest
http://europepmc.org/articles/PMC6507133Test

المؤلفون: Billingsley K.J., Barbosa I.A., Bandrés-Ciga S., Quinn J.P., Bubb V.J., Deshpande C., Botia J.A., Reynolds R.H., Zhang D., Simpson M.A., Blauwendraat C., Gan-Or Z., Gibbs J.R., Nalls M.A., Singleton A., Noyce A., Tucci A., Middlehurst B., Kia D., Tan M., Houlden H., Morris H.R., Plun-Favreau H., Holmans P., Hardy J., Trabzuni D., Bras J., Mok K., Kinghorn K., Wood N., Lewis P., Guerreiro R., Lovering R., R’Bibo L., Rizig M., Escott-Price V., Chelban V., Foltynie T., Williams N., Brice A., Danjou F., Lesage S., Martinez M., Giri A., Schulte C., Brockmann K., Simón-Sánchez J., Heutink P., Rizzu P., Sharma M., Gasser T., Nicolas A., Cookson M., Faghri F., Hernandez D., Shulman J., Robak L., Lubbe S., Finkbeiner S., Mencacci N., Lungu C., Scholz S., Reed X., Leonard H., Rouleau G., Krohan L., van Hilten J., Marinus J., Adarmes-Gómez A., Aguilar M., Alvarez I., Alvarez V., Javier Barrero F., Bergareche Yarza J., Bernal-Bernal I., Blazquez M., Bernal M.B.-T., Boungiorno M., Buiza-Rueda D., Cámara A., Carcel M., Carrillo F., Carrión-Claro M., Cerdan D., Clarimón J., Compta Y., Diez-Fairen M., Dols-Icardo O., Duarte J., Duran R., Escamilla-Sevilla F., Ezquerra M., Fernández M., Fernández-Santiago R., Garcia C., García-Ruiz P., Gómez-Garre P., Heredia M.G., Gonzalez-Aramburu I., Pagola A.G., Hoenicka J., Infante J., Jesús S., Jimenez-Escrig A., Kulisevsky J., Labrador-Espinosa M., Lopez-Sendon J., de Munain Arregui A.L., Macias D., Torres I.M., Marín J., Marti M.J., Martínez-Castrillo J., Méndez-del-Barrio C., Menéndez González M., Mínguez A., Mir P., Rezola E.M., Muñoz E., Pagonabarraga J., Pastor P., Errazquin F.P., Periñán-Tocino T., Ruiz-Martínez J., Ruz C., Rodriguez A.S., Sierra M., Suarez-Sanmartin E., Tabernero C., Tartari J.P., Tejera-Parrado C., Tolosa E., Valldeoriola F., Vargas-González L., Vela L., Vives F., Zimprich A., Pihlstrom L., Taba P., Majamaa K., Siitonen A., Okubadejo N., Ojo O., Ryten M., Koks S.

المصدر: npj Parkinsons Disease
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: genotype, Mendelian randomization analysis, CLN8 gene, MUC1 gene, genetic analysis, bioenergy, genetic risk, genetic risk score, Article, ATG14 gene, disorders of mitochondrial functions, MRPS34 gene, degenerative disease, mitochondrial gene, EP300 gene, gene mutation, human, MPI gene, gene, molecular phylogeny, LMBRD1 gene, genome-wide association study, monogenic disorder, mitochondrial dynamics, Parkinson disease, E2F1 gene, mitophagy, CAPRIN2 gene, priority journal, risk factor, LGALS3 gene, disease exacerbation, gene expression, gene ontology, meta analysis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::9375763f2b9ae8b0fc7b9fdef2856c1fTest
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10173Test

المؤلفون: Palma-Gudiel H, Eixarch E, Crispi F, Morán S, Zannas AS, Fañanás L

المصدر: CLINICAL EPIGENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

مصطلحات موضوعية: EP300 gene, Epigenetic clock, Prenatal stress, Hypoxia, DNA methylation, Schizophrenia, Obstetric complications, Monozygotic twins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c1efa64d642758066355d10907d524ffTest
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16255Test

المؤلفون: Ajmone PF, Avignone S, Gervasini C, Giacobbe A, Monti F, Costantino A, Esposito S, Marchisio P, Triulzi F, Milani D.

المساهمون: Ajmone, Pf, Avignone, S, Gervasini, C, Giacobbe, A, Monti, F, Costantino, A, Esposito, S, Marchisio, P, Triulzi, F, Milani, D.

مصطلحات موضوعية: behavioral phenotype, CREBBP gene, EP300 gene, intellectual disability, MRI anomalie, RSTS, tethered cord

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29637745; info:eu-repo/semantics/altIdentifier/wos/WOS:000434076400004; volume:177; issue:4; firstpage:406; lastpage:415; numberofpages:10; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS; http://hdl.handle.net/11391/1431934Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85045189558; http://onlinelibrary.wiley.com/journal/10.1002Test/(ISSN)1552-485X

الإتاحة: https://doi.org/10.1002/ajmg.b.32628Test
http://hdl.handle.net/11391/1431934Test

المؤلفون: Agnieszka Robaszkiewicz, Corinne M. Spickett, Maciej Sobczak, Andrew R. Pitt

المصدر: Cancers
Volume 11
Issue 10
Cancers, Vol 11, Iss 10, p 1539 (2019)
Sobczak, K, Pitt, A, Spickett, G P & Robaszkiewicz 2019, ' PARP1 Co-Regulates EP300–BRG1-Dependent Transcription of Genes Involved in Breast Cancer Cell Proliferation and DNA Repair ', Cancers, vol. 11, no. 10, pp. 1539 . https://doi.org/10.3390/cancers11101539Test

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, DNA repair, DNA damage, genetic processes, Biology, lcsh:RC254-282, Article, 03 medical and health sciences, 0302 clinical medicine, Transcription (biology), poly-ADP-ribose polymerase 1 (PARP1), E2F, cancer cell, brahma-related gene 1 (BRG1), Promoter, poly-ADP-ribose polymerase 1 (PARP1), brahma-related gene 1 (BRG1), histone acetyltransferase p300 (EP300), gene transcription, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, histone acetyltransferase p300 (EP300), gene transcription, Chromatin, Cell biology, enzymes and coenzymes (carbohydrates), 030104 developmental biology, Histone, Oncology, 030220 oncology & carcinogenesis, Cancer cell, biology.protein, biological phenomena, cell phenomena, and immunity

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38f6d5e01a63e2bb95be0e1ec21df444Test
https://doi.org/10.3390/cancers11101539Test

المؤلفون: Cianci P., Bettini L., Selicorni A.

المساهمون: Cianci, P, Bettini, L, Selicorni, A

مصطلحات موضوعية: EP300 gene, gene, gene mutation, human, Note, phenotype, Rubinstein syndrome

وصف الملف: STAMPA

العلاقة: volume:36; issue:8; firstpage:523; lastpage:525; numberofpages:3; journal:MEDICO E BAMBINO; https://hdl.handle.net/10281/480061Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85031822901

الإتاحة: https://hdl.handle.net/10281/480061Test

المؤلفون: Geisinger Clinic, Boston Children's Hospital, Simons Foundation

المصدر: Wes LA, Shen Y, Korn JM, Arkg DE, Mler DT, Fossdal R, Saemundsen E, Stefansson H, Ferrea MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, ChakravartA, TanzRE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; Autm Consortm. Assoctn between mrodeletn and mroduplatn at 16p11.2 and autm. N Engl J Med. 2008 Feb 14;358(7):667-75. do 10.1056/NEJMoa075974. Epub 2008 Jan 9.
Sons V Consortm. Sons Vartn duals Project (Sons V): a genets-fst approach to studyg autm spectrum and related neurodevelopmental dorders. Neuron. 2012 Mar 22;73(6):1063-7. do 10.1016/j.neuron.2012.02.014. Epub 2012 Mar 21.
Zufferey F, Sherr EH, Beckmann ND, Hanson E, Malard AM, Hpolyte L, Mace A, FerrarC, Kutal Z, Andrux J, Aylward E, Barker M, Bernr R, Bouqulon S, Conus P, Delobel B, Faucett WA, Go-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Mart CL, Mann K, Martet D, Mukherjee P, RamockMB, Spence SJ, Steman KJ, Tjernagel J, Spo JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Sons V Consortm; 16p11.2 European Consortm. A 600 kb deletn syndrome at 16p11.2 leads to energy balance and neuropsychtr dorders. J Med Genet. 2012 Oct;49(10):660-8. do 10.1136/jmedgenet-2012-101203. Erratum : J Med Genet. 2014 Jul;51(7):478.
Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernr R, Go-Kochel RP, Myers SM, Challman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spo JE, Faucett WA, Mart CL, Ledbetter DH. The role of parental cogne, behavral, and motor profes clal varby duals wh chromosome 16p11.2 deletns. JAMA Psychtry. 2015 Feb;72(2):119-26. do 10.1001/jamapsychtry.2014.2147.
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT01238250Test

Other URLs: https://simonssearchlight.orgTest/