نتائج البحث - "Ayeshah Chaudhry"

1

دورية أكاديمية

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 14, p 8001 (2022)

مصطلحات موضوعية: JARID2, developmental disorder, DNA methylation, epigenetics, episignature, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/23/14/8001Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/eb24dc9067e04b99b978e8893b3f211cTest

View record in DOAJ

النص الكامل

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Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature

المساهمون: Institut Català de la Salut, [Gazdagh G] Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK. Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. [Hunt D] Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK. [Cueto Gonzalez AM] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Pons Rodriguez M] Hospital Universitari Son Espases, Palma, Illes Balears, Spain. [Chaudhry A] Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, Ontario, Canada. Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada. [Madruga M] Hospital Viamed Santa Angela De la Cruz, Sevilla, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: enfermedades del sistema nervioso::malformaciones del sistema nervioso [ENFERMEDADES], phenotype, Nervous System Diseases::Nervous System Malformations [DISEASES], fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS], macrocephaly, Sistema nerviós - Malalties - Aspectes genètics, Fenotip, spectrin, Anomalies cromosòmiques, GEFD, Genetic Phenomena::Phenotype [PHENOMENA AND PROCESSES], Genetics, TRIO gene, Malformacions, Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES], microcephaly, Medical Genetics, fenómenos genéticos::fenotipo [FENÓMENOS Y PROCESOS], Genetics (clinical), Medicinsk genetik

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.presentationml.presentation; text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed6d94a52318aae49c775be35045cbd5Test
https://doi.org/10.1002/ajmg.a.63194Test

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JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

المؤلفون: Ange Line Bruel, Katherine A. Bosanko, Abeltje M. Polstra, Agne Liedén, Marcel M.A.M. Mannens, R. Pfundt, Frédérick A. Mallette, Britt-Marie Anderlid, Kieran B. Pechter, Louise Rafael-Croes, Madhura Bakshi, Saskia M. Maas, Dagmar Glatz, R. Frank Kooy, Natalie Lippa, Philippe M. Campeau, Yuri A. Zarate, Jade England, Mieke M. van Haelst, Megan Boothe, Kosuke Izumi, Manon van Ginkel, Vimla Aggarwal, Anna Lehman, Eline A. Verberne, Zornitza Stark, Christopher M. Richmond, Marije Meuwissen, Darryl C. De Vivo, Pankaj B. Agrawal, Shuxiang Goh, Jennifer M. Lemons, Bertrand Isidor, Ayeshah Chaudhry, Causes Study, Emma Bedoukian, Nathaniel H. Robin, David A. Koolen, Sylvia Stockler, David Rodriguez-Buritica

المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human Genetics, Graduate School, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, ACS - Pulmonary hypertension & thrombosis

المصدر: Genetics in medicine
Genetics in Medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 2, pp. 374-383
Verberne, E A, Goh, S, England, J, van Ginkel, M, Rafael-Croes, L, Maas, S, Polstra, A, Zarate, Y A, Bosanko, K A, Pechter, K B, Bedoukian, E, Izumi, K, Chaudhry, A, Robin, N H, Boothe, M, Lippa, N C, Aggarwal, V, De Vivo, D C, Lehman, A, Study, C, Stockler, S, Bruel, A L, Isidor, B, Lemons, J, Rodriguez-Buritica, D F, Richmond, C M, Stark, Z, Agrawal, P B, Kooy, R F, Meuwissen, M E C, Koolen, D A, Pfundt, R, Lieden, A, Anderlid, B M, Glatz, D, Mannens, M M A M, Bakshi, M, Mallette, F A, van Haelst, M M & Campeau, P M 2021, ' JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome ', Genetics in Medicine, vol. 23, no. 2, pp. 374-383 . https://doi.org/10.1038/s41436-020-00992-zTest
Genetics in medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 374-383