نتائج البحث - "Armstrong Judith"

1

دورية أكاديمية

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.652454/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57Test

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النص الكامل

2

دورية أكاديمية

Assessment of geneâ€“disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

المساهمون: UCL - (SLuc) Centre de gÃ©nÃ©tique mÃ©dicale UCL, Radboud University Medical Center - Department of Pathology, CHU Caen Normandie - Service de GÃ©nÃ©tique, University of Helsinki - Laboratory of Genetics, Institut de Recerca Sant Joan de DÃ©u - Genomic Unit, Hospital Sant Joan de Deu - Department of Dermatology, Bambino GesÃ¹ Children Hospital and Research Institute - Laboratory of Medical Geneticsogy, Sorbonne UniversitÃ© - DÃ©partement de GÃ©nÃ©tique, Karolinska Institutet and Department of Clinical Genetics - Department of Molecular Medicine and Surgery, Copenhagen University Hospital - Rigshospitalet - Department of Genetics, Center of Diagnostics, Hospital Sant Joan de DÃ©u - Laboratory of Molecular Oncology, University of Helsinki - Department of Clinical Genetics, Oslo University Hospital - Department of Medical Genetics, Bambino GesÃ¹ Children Hospital and Research Institute - Laboratory of Medical Genetics, University Hospital Otto-Von-Guericke-University - Institute of Human Genetics, UCL - (SLuc) Centre de malformations vasculaires congÃ©nitales, UCL - SSS/DDUV/GEHU - GÃ©nÃ©tique, WEL Research Institute - WELBIO Department

المصدر: Orphanet Journal of Rare Diseases, Vol. 19, no.1, p. 213 (2024)

العلاقة: boreal:288618; http://hdl.handle.net/2078.1/288618Test; urn:ISSN:1750-1172; urn:EISSN:1750-1172

الإتاحة: https://doi.org/10.1186/s13023-024-03196-9Test
http://hdl.handle.net/2078.1/288618Test

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النص الكامل

3

دورية أكاديمية

Additional file 1 of Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA ...

مصطلحات موضوعية: Genetics, FOS Biological sciences

الإتاحة: https://doi.org/10.6084/m9.figshare.25884951.v110.6084/m9.figshare.2588495110.1097/00006534-198203000-0000210.1038/ng.27210.1093/hmg/ddp00210.1161/circresaha.121.31814510.1016/j.ajhg.2015.11.01110.1126/scitranslmed.aaf116410.1186/s13023-021-01929-810.1055/s-0037-160429610.1053/j.sempedsurg.2014.06.01410.1158/2159-8290.cd-17-032110.1002/humu.2364010.1038/s41436-021-01211-z10.1038/gim.2018.310.1016/j.jmoldx.2016.06.01010.1038/gim.2015.3010.1016/j.jmoldx.2016.10.00210.1038/s41591-019-0479-210.1093/hmg/ddab14410.15252/emmm.202012324Test
https://springernature.figshare.com/articles/journal_contribution/Additional_file_1_of_Assessment_of_gene_disease_associations_and_recommendations_for_genetic_testing_for_somatic_variants_in_vascular_anomalies_by_VASCERN-VASCA/25884951/1Test

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4

دورية أكاديمية

Experimental and bioinformatic insights into the effects of epileptogenic variants on the function and trafficking of the GABA transporter GAT-1

المؤلفون: Piniella, Dolores, Canseco, Ania, Vidal, Silvia, Xiol, Clara, Díaz de Bustamante, Aránzazu, Martí-Carrera, Itxaso, Armstrong, Judith, Bastolla, Ugo, Zafra Gómez, Francisco

المساهمون: UAM. Departamento de Biología Molecular

مصطلحات موضوعية: GABA Transporter, Epilepsy, Intracellular Trafficking, 4-Phenylbutyrate, Biología y Biomedicina / Biología

وصف الملف: application/pdf

العلاقة: International Journal of Molecular Sciences; https://doi.org/10.3390/ijms24020955Test; Gobierno de España. RTI2018-098712-B-100; International Journal of Molecular Sciences 24.2 (2023): 955; 1661-6596 (print); 1422-0067 (online); http://hdl.handle.net/10486/706682Test; 955-1; 955-26; 24

الإتاحة: https://doi.org/10.3390/ijms24020955Test
http://hdl.handle.net/10486/706682Test

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5

دورية أكاديمية

Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

المؤلفون: Amato, Maria Eugenia, Ricart, Silvia, Vicente, Maria Asunción, Martorell, Loreto, Armstrong, Judith, Fernández Isern, Guerau, Mascaro, José Manuel, Balsells, Sol, Alonso, Itziar, Serrano, Mercedes, Ortigoza‐Escobar, Juan Darío

المصدر: Clinical Case Reports ; volume 11, issue 4 ; ISSN 2050-0904 2050-0904

الإتاحة: https://doi.org/10.1002/ccr3.7275Test

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6

دورية أكاديمية

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach

المؤلفون: Pascual-Alonso, Ainhoa, Xiol, Clara, Smirnov, Dmitrii, Kopajtich, Robert, Prokisch, Holger, Armstrong, Judith

المساهمون: European Social Fund, Spanish National Plan for Scientific and Technical Research and Innovation, Muévete por los que no pueden, Miradas que hablan-sindrome de dupliación MECP2, Instituto de Salud Carlos III

المصدر: Human Genomics ; volume 17, issue 1 ; ISSN 1479-7364

مصطلحات موضوعية: Drug Discovery, Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s40246-023-00532-1Test

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