نتائج البحث - "Phelan-McDermid syndrome (PMS)"

المساهمون: Florida Cancer Specialists Fort Myers, FL, Clemson University, University of Alabama at Birmingham Birmingham (UAB), Universität Ulm - Ulm University Ulm, Allemagne, University of Groningen Groningen, The Greenwood Genetic Center, Istituto di Neuroscienze - Institute of Neuroscience Milan, Italy (CNR), Università degli Studi di Milano = University of Milan (UNIMI)-Consiglio Nazionale delle Ricerche Milano (CNR), National Institute of Mental Health (NIMH), National Institutes of Health Bethesda, MD, USA (NIH), Indiana University School of Medicine, Indiana University System, Cyclerion Therapeutics Cambridge, MA, Rogers Behavioral Health Oconomowoc, WI, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), No funding sources were utilized in the preparation of this article

المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://pasteur.hal.science/pasteur-04069481Test ; Orphanet Journal of Rare Diseases, 2022, 17 (1), pp.27. ⟨10.1186/s13023-022-02180-5⟩.

مصطلحات موضوعية: Phelan-McDermid syndrome PMS SHANK3 22q13 deletion, Phelan-McDermid syndrome, PMS, SHANK3, 22q13 deletion, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35093143; pasteur-04069481; https://pasteur.hal.science/pasteur-04069481Test; https://pasteur.hal.science/pasteur-04069481/documentTest; https://pasteur.hal.science/pasteur-04069481/file/s13023-022-02180-5.pdfTest; PUBMED: 35093143; PUBMEDCENTRAL: PMC8800328

الإتاحة: https://doi.org/10.1186/s13023-022-02180-5Test
https://pasteur.hal.science/pasteur-04069481Test
https://pasteur.hal.science/pasteur-04069481/documentTest
https://pasteur.hal.science/pasteur-04069481/file/s13023-022-02180-5.pdfTest

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6

دورية أكاديمية

Variability in Phelan-McDermid syndrome in a cohort of 210 Individuals

المؤلفون: Nevado Blanco, Julián, García Miñaúr, Sixto, Palomares Bralo, María, Vallespín, Elena, Guillén Navarro, Encarna, Rosell, Jordi, Bel Fenellos, María Cristina, Mori, María Ángeles, Milá, Montserrat, del Campo, Miguel, Barrúz, Pilar, Santos Simarro, Fernando, Obregón, Gabriela, Orellana, Carmen, Pachajoa, Harry, Tenorio, Jair Antonio, Galán, Enrique, Cigudosa, Juan C., Moresco, Angélica, Saleme, César, Castillo, Silvia, Gabau, Elisabeth, Pérez Jurado, Luis, Barcia, Ana, Martín, María Soledad, Mansilla, Elena, Vallcorba, Isabel, García Murillo, Pedro, Cammarata Scalisi, Franco, Gonçalves Pereira, Natálya, Blanco Lago, Raquel, Serrano, Mercedes, Ortigoza Escobar, Juan Dario, Gener, Blanca, Seidel, Verónica Adriana, Tirado, Pilar, Lapuniza, Pablo

وصف الملف: application/pdf

العلاقة: EVALUACIÓN PSICOMÉTRICA EN PACIENTES CON SÍNDROME DE PHELAN-M DERMID "SÍNDROME DE MICRODELECCIÓN 22Q13" P4174.Fundación Investigación Biomédica Hospital La Paz. Instituto de Investigación Hospital universitario La Paz; https://hdl.handle.net/20.500.14352/100478Test; Nevado, J., García-Miñaúr, S., Palomares-Bralo, M., Vallespín, E., Guillén-Navarro, E., Rosell, J., Bel-Fenellós, C., Mori, M. Á., Milá, M., Del Campo, M., Barrúz, P., Santos-Simarro, F., Obregón, G., Orellana, C., Pachajoa, H., Tenorio, J. A., Galán, E., Cigudosa, J. C., Moresco, A., Saleme, C., … Spanish PMS Working Group (2022). Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals. Frontiers in genetics, 13, 652454. https://doi.org/10.3389/fgene.2022.652454Test; https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.652454/fullTest; https://pubmed.ncbi.nlm.nih.gov/35495150Test/; https://produccioncientifica.ucm.es/documentos/62dc5f46a3beec219592c6c6Test

الإتاحة: https://doi.org/20.500.14352/100478Test
https://doi.org/10.3389/fgene.2022.652454Test
https://hdl.handle.net/20.500.14352/100478Test
https://pubmed.ncbi.nlm.nih.gov/35495150Test/
https://produccioncientifica.ucm.es/documentos/62dc5f46a3beec219592c6c6Test

View record in BASE

النص الكامل

7

دورية أكاديمية

Additional file 1 of A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

المؤلفون: Na Xu (188237), Hui Lv (1537975), Tingting Yang (166111), Xiujuan Du (6031490), Yu Sun (18463), Bing Xiao (158836), Yanjie Fan (3482519), Xiaomei Luo (502040), Yongkun Zhan (4480564), Lili Wang (104605), Fei Li (143236), Yongguo Yu (9710830)

مصطلحات موضوعية: Medicine, Genetics, Science Policy, Mental Health, Computational Biology, Phelan–McDermid syndrome (PMS), Mainland China, SHANK3 haploinsufficiency, Genotype–phenotype correlation

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_A_29_Mainland_Chinese_cohort_of_patients_with_Phelan_McDermid_syndrome_genotype_phenotype_correlations_and_the_role_of_SHANK3_haploinsufficiency_in_the_important_phenotypes/13310995Test

الإتاحة: https://doi.org/10.6084/m9.figshare.13310995.v1Test

View record in BASE

8

Phelan-McDermid syndrome: a classification system after 30 years of experience

المؤلفون: Katy Phelan, Luigi Boccuto, Craig M. Powell, Tobias M. Boeckers, Conny van Ravenswaaij-Arts, R. Curtis Rogers, Carlo Sala, Chiara Verpelli, Audrey Thurm, William E. Bennett, Christopher J. Winrow, Sheldon R. Garrison, Roberto Toro, Thomas Bourgeron

المساهمون: Florida Cancer Specialists [Fort Myers, FL], Clemson University, University of Alabama at Birmingham [ Birmingham] (UAB), Universität Ulm - Ulm University [Ulm, Allemagne], University of Groningen [Groningen], The Greenwood Genetic Center, Istituto di Neuroscienze - Institute of Neuroscience [Milan, Italy] (CNR), Università degli Studi di Milano = University of Milan (UNIMI)-Consiglio Nazionale delle Ricerche [Milano] (CNR), National Institute of Mental Health (NIMH), National Institutes of Health [Bethesda] (NIH), Indiana University School of Medicine, Indiana University System, Cyclerion Therapeutics [Cambridge, MA], Rogers Behavioral Health [Oconomowoc, WI], Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), No funding sources were utilized in the preparation of this article, Clinical Cognitive Neuropsychiatry Research Program (CCNP)

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 2022, 17 (1), pp.27. ⟨10.1186/s13023-022-02180-5⟩
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-4 (2022)
Orphanet journal of rare diseases, 17(1):27. BMC

مصطلحات موضوعية: Chromosomes, Human, Pair 22, Phelan-McDermid syndrome PMS SHANK3 22q13 deletion, PMS, Chromosome Disorders, General Medicine, 22q13 deletion, Phenotype, Medicine, Phelan-McDermid syndrome, Humans, Pharmacology (medical), [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Chromosome Deletion, Letter to the Editor, SHANK3, Genetics (clinical)