المؤلفون: Liu, Xiangyu, Meng, Jing^{Aff2, Aff3}, Ma, Jinhui^{Aff2, Aff3, Aff4}, Shu, Jianbo^{Aff2, Aff5}, Gu, Chunyu^{Aff2, Aff6}, Chen, Xiaofang^{Aff2, Aff6}, Li, Dong^{Aff2, Aff3, IDs11033022076148_cor7}, Cai, Chunquan^{Aff2, Aff5, Aff7, IDs11033022076148_cor8}

المصدر: Molecular Biology Reports: An International Journal on Molecular and Cellular Biology. 49(11):10469-10477

المؤلفون: Tian, Maoqiang^{Aff1, IDs1288702203246w_cor1}, Chen, Jing, Li, Juan, Pan, Hong, Lei, Wenting, Shu, Xiaomei

المصدر: BMC Pediatrics. 22(1)

المؤلفون: Maoqiang Tian, Jing Chen, Juan Li, Hong Pan, Wenting Lei, Xiaomei Shu

المصدر: BMC Pediatrics, Vol 22, Iss 1, Pp 1-6 (2022)

مصطلحات موضوعية: Multiple congenital anomalies-hypotonia-seizures syndrome, Paroxysmal nonkinesigenic dyskinesia, PIGN gene, seizure, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/9e885de2e74c4ba3a0ffa30ccdadd340

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تسجيل الدخول للوصول الكامل.

المؤلفون: Li Sun, Xiaomei Yang, Yasong Xu, Shiyu Sun, Qichang Wu

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 3, Pp 530-533 (2021)

مصطلحات موضوعية: Whole exome sequencing (WES), PIGN gene, Glycosylphosphatidylinositol (GPI), Congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1), Fryns syndrome (FS), Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1028455921000772; https://doaj.org/toc/1028-4559

URL الوصول: https://doaj.org/article/1348657b91654cd7b6442d16835633ba

المؤلفون: Evelina Siavrienė, Živilė Maldžienė, Violeta Mikštienė, Gunda Petraitytė, Tautvydas Rančelis, Justas Dapkūnas, Birutė Burnytė, Eglė Benušienė, Aušra Sasnauskienė, Jurgita Grikinienė, Eglė Griškevičiūtė, Algirdas Utkus, Eglė Preikšaitienė

المصدر: Medicina, Vol 58, Iss 11, p 1526 (2022)

مصطلحات موضوعية: PIGN, compound heterogeneous variants, multiple congenital anomalies-hypotonia-seizures syndrome 1, Fryns syndrome, congenital anomalies, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1648-9144/58/11/1526; https://doaj.org/toc/1010-660X; https://doaj.org/toc/1648-9144

URL الوصول: https://doaj.org/article/0d4f223e52f746da93d29b17009c6014

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تسجيل الدخول للوصول الكامل.

المؤلفون: Shi-qi Xiao, Mei-hui Li, Yi-lin Meng, Chuang Li, Hai-long Huang, Cai-xia Liu, Yuan Lyu, Quan Na

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: PIGN, multiple congenital anomalies-hypotonia-seizures syndrome 1, reproduction guidance, prenatal diagnosis, glycosylphosphatidylinositol-anchor biosynthesis pathway, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2020.594078/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/224a74016355450e8ba861020d7e723d

المؤلفون: Allan Bayat, Guillem de Valles‐Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino, Annette Bley, Sophie Calvert, Patrick Carney, Alfonso Caro‐Llopis, Berten Ceulemans, Janice Cousin, Suzanne Davis, Vincent des Portes, Patrick Edery, Eleina England, Carlos Ferreira, Jeremy Freeman, Blanca Gener, Magali Gorce, Delphine Heron, Michael S. Hildebrand, Aleksandra Jezela‐Stanek, Pierre‐Simon Jouk, Boris Keren, Katja Kloth, Gerhard Kluger, Marius Kuhn, Johannes R. Lemke, Hong Li, Francisco Martinez, Caroline Maxton, Heather C. Mefford, Giuseppe Merla, Hanna Mierzewska, Alison Muir, Sandra Monfort, Joost Nicolai, Jennifer Norman, Gina O'Grady, Barbara Oleksy, Carmen Orellana, Laura Elena Orec, Charlotte Peinhardt, Ewa Pronicka, Monica Rosello, Fernando Santos‐Simarro, Eva Maria Christina Schwaibold, Alexander P. A. Stegmann, Constance T. Stumpel, Elzbieta Szczepanik, Iwona Terczyńska, Julien Thevenon, Andreas Tzschach, Patrick Van Bogaert, Roberta Vittorini, Sonja Walsh, Sarah Weckhuysen, Barbara Weissman, Lynne Wolfe, Alexandre Reymond, Pasquelena De Nittis, Annapurna Poduri, Heather Olson, Pasquale Striano, Gaetan Lesca, Ingrid E. Scheffer, Rikke S. Møller, Lynette G. Sadleir

المساهمون: RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), MUMC+: DA KG Lab Specialisten (9)

المصدر: Epilepsia, 63(4), 974-991. Wiley
Epilepsia
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Bayat, A, de Valles-Ibáñez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, des Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, M S, Jezela-Stanek, A, Jouk, P S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, J R, Li, H, Martinez, F, Maxton, C, Mefford, H C, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, L E, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, E M C, Stegmann, A P A, Stumpel, CT, Szczepanik, E, Terczyńska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, I E, Møller, R S & Sadleir, L G 2022, ' PIGN encephalopathy : Characterizing the epileptology ', Epilepsia, vol. 63, no. 4, pp. 974-991 . https://doi.org/10.1111/epi.17173

مصطلحات موضوعية: Epilepsy/diagnostic imaging, Drug Resistant Epilepsy, PROTEINS, Electroencephalography, Intellectual Disability/diagnostic imaging, HYPOTONIA-SEIZURES SYNDROME, PHENOTYPE, congenital disorder of glycosylation, CONGENITAL-ANOMALIES, Phenotype, Neurology, Seizures, intellectual disability, Humans, epilepsy, Female, Human medicine, Neurology (clinical), developmental and epileptic encephalopathy, PRENATAL-DIAGNOSIS, Seizures/genetics, GPI-anchoring disorder, MUTATION

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4449aa5fd5347944f5112b52327194e1
https://cris.maastrichtuniversity.nl/en/publications/0de515e6-beb9-44d5-98da-4fa8681f15b0

المؤلفون: Yasong Xu, Xiaomei Yang, Qichang Wu, Li Sun, Shiyu Sun

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 3, Pp 530-533 (2021)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Prenatal diagnosis, Congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1), 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Medicine, Exome sequencing, Loss function, PIGN gene, Sanger sequencing, 030219 obstetrics & reproductive medicine, Omphalocele, Splice site mutation, business.industry, Fryns syndrome (FS), Glycosylphosphatidylinositol (GPI), Obstetrics and Gynecology, Cystic hygroma, Gynecology and obstetrics, medicine.disease, Mutation (genetic algorithm), RG1-991, symbols, business, Whole exome sequencing (WES)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac14d17ce691a8cc1a9330b0942a3cfa
https://doi.org/10.1016/j.tjog.2021.03.026