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ArticlesPeer ReviewedFull Text
Redefining the MED13L syndrome
Author / Creator:Adegbola, Abidemi ; Musante, Luciana ; Callewaert, Bert ; Maciel, Patricia ; Hu, Hao ; Isidor, Bertrand ; Picker-Minh, Sylvie ; Le Caignec, Cedric ; Delle Chiaie, Barbara ; Vanakker, Olivier ; Menten, Björn ; Dheedene, Annelies ; Bockaert, Nele ; Roelens, Filip ; Decaestecker, Karin ; Silva, João ; Soares, Gabriela ; Lopes, Fátima ; Najmabadi, Hossein ; Kahrizi, Kimia ; Cox, Gerald F ; Angus, Steven P ; Staropoli, John F ; Fischer, Ute ; Suckow, Vanessa ; Bartsch, Oliver ; Chess, Andrew ; Ropers, Hans-Hilger ; Wienker, Thomas F ; Hübner, Christoph ; Kaindl, Angela M ; Kalscheuer, Vera M
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1308-1317
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Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability
Author / Creator:Yi, Zhi ; Zhang, Ying ; Song, Zhenfeng ; Pan, Hong ; Yang, Chengqing ; Li, Fei ; Xue, Jiao ; Qu, Zhenghai
Publisher:Pisa: BioMed Central
Journal title:Italian journal of pediatrics, 2020-07, Vol.46 (1), p.1-95, Article 95
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Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome
Author / Creator:Fauqueux, Jade ; Boussion, Simon ; Thuillier, Caroline ; Meurisse, Evine ; Lacombe, Didier ; Willems, Marjolaine ; Piton, Amélie ; Ait-Yahya, Emilie ; Ghoumid, Jamal ; Smol, Thomas
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-11, Vol.61 (11), p.1040-1044
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Further confirmation of the MED13L haploinsufficiency syndrome
Author / Creator:van Haelst, Mieke M ; Monroe, Glen R ; Duran, Karen ; van Binsbergen, Ellen ; Breur, Johannes M ; Giltay, Jacques C ; van Haaften, Gijs
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-01, Vol.23 (1), p.135-138
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Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
Author / Creator:Cafiero, Concetta ; Marangi, Giuseppe ; Orteschi, Daniela ; Ali, Marwan ; Asaro, Alessia ; Ponzi, Emanuela ; Moncada, Alice ; Ricciardi, Stefania ; Murdolo, Marina ; Mancano, Giorgia ; Contaldo, Ilaria ; Leuzzi, Vincenzo ; Battaglia, Domenica ; Mercuri, Eugenio ; Slavotinek, Anne M ; Zollino, Marcella
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1499-1504
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MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity
Author / Creator:Zhang, Nasha ; Song, Yemei ; Xu, Yeyang ; Liu, Jiandong ; Shen, Yue ; Zhou, Liqing ; Yu, Jinming ; Yang, Ming
Publisher:Wyoming: Ivyspring International Publisher Pty Ltd
Journal title:Theranostics, 2020-01, Vol.10 (20), p.9378-9394
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ArticlesPeer ReviewedFull Text
Cochleovestibular Phenotype in a Rare Genetic MED13L Mutation
Author / Creator:Shahid, Mariam ; Ahmed, Mohamed ; Avula, Shivaram ; Dasgupta, Soumit
Publisher:Ankara: AVES
Journal title:The journal of international advanced otology, 2024-01, Vol.20 (1), p.85-88
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ArticlesPeer ReviewedFull Text
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
Author / Creator:Smol, T ; Petit, F ; Piton, A ; Keren, B ; Sanlaville, D ; Afenjar, A ; Baker, S ; Bedoukian, E C ; Bhoj, E J ; Bonneau, D ; Boudry-Labis, E ; Bouquillon, S ; Boute-Benejean, O ; Caumes, R ; Chatron, N ; Colson, C ; Coubes, C ; Coutton, C ; Devillard, F ; Dieux-Coeslier, A ; Doco-Fenzy, M ; Ewans, L J ; Faivre, L ; Fassi, E ; Field, M ; Fournier, C ; Francannet, C ; Genevieve, D ; Giurgea, I ; Goldenberg, A ; Green, A K ; Guerrot, A M ; Heron, D ; Isidor, B ; Keena, B A ; Krock, B L ; Kuentz, P ; Lapi, E ; N Le Meur ; Lesca, G ; D Li ; Marey, I ; Mignot, C ; Nava, C ; Nesbitt, A ; Nicolas, G ; Roche-Lestienne, C ; Roscioli, T ; Satre, V ; Santani, A ; Stefanova, M ; S Steinwall Larsen ; Saugier-Veber, P ; Picker-Minh, S ; Thuillier, C ; Verloes, A ; Vieville, G ; Wenzel, M ; Willems, M ; Whalen, S ; Zarate, Y A ; Ziegler, A ; S Manouvrier-Hanu ; Kalscheuer, V M ; Gerard, B ; Ghoumid, Jamal
Publisher:Heidelberg: Springer Nature B.V
Journal title:Neurogenetics, 2018-05, Vol.19 (2), p.93-103
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ArticlesPeer ReviewedFull Text
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability
Author / Creator:Asadollahi, Reza ; Oneda, Beatrice ; Sheth, Frenny ; Azzarello-Burri, Silvia ; Baldinger, Rosa ; Joset, Pascal ; Latal, Beatrice ; Knirsch, Walter ; Desai, Soaham ; Baumer, Alessandra ; Houge, Gunnar ; Andrieux, Joris ; Rauch, Anita
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1100-1104
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Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review
Author / Creator:Caumes, Roseline ; Burger, Pauline ; Mandel, Jean-Louis ; Béhal, Hélène ; Ghoumid, Jamal ; Smol, Thomas
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2025-05, Vol.17 (1), p.28-7, Article 28
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Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome
Author / Creator:Siavrienė, Evelina ; Petraitytė, Gunda ; Mikštienė, Violeta ; Maldžienė, Živilė ; Sasnauskienė, Aušra ; Žitkutė, Vilmantė ; Ambrozaitytė, Laima ; Rančelis, Tautvydas ; Utkus, Algirdas ; Kučinskas, Vaidutis ; Preikšaitienė, Eglė
Publisher:Switzerland: MDPI AG
Journal title:Medicina (Kaunas, Lithuania), 2023-06, Vol.59 (7), p.1225
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The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981)
Author / Creator:Dawidziuk, Mateusz ; Kutkowska-Kaźmierczak, Anna ; Gawliński, Paweł ; Wiszniewski, Wojciech ; Gos, Monika ; Stawiński, Piotr ; Rydzanicz, Małgorzata ; Kosińska, Joanna ; Własienko, Paweł ; Malinowska Kordowska, Olga ; Bartnik-Głaska, Magdalena ; Bernaciak, Joanna ; Szczałuba, Krzysztof ; Bekiesińska-Figatowska, Monika ; Płoski, Rafał ; Bal, Jerzy ; Olimpia Rzońca-Niewczas, Sylwia
Publisher:Poland: Sciendo
Journal title:Journal of Mother and Child, 2021-04, Vol.24 (3), p.32-36
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A role for Mediator complex subunit MED13L in Rb/E2F-induced growth arrest
Author / Creator:Angus, S P ; Nevins, J R
Publisher:London: Nature Publishing Group UK
Journal title:Oncogene, 2012-11, Vol.31 (44), p.4709-4717
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Analysis of Polymorphisms in the Mediator Complex Subunit 13-like (Med13L) Gene in the Context of Immune Function and Development of Experimental Arthritis
Author / Creator:Sardar, Samra ; Kanne, Katrine ; Andersson, Åsa
Publisher:Cham: Springer International Publishing
Journal title:Archivum Immunologiae et Therapiae Experimentalis, 2018-10, Vol.66 (5), p.365-377
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Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes
Author / Creator:Mullegama, Sureni V. ; Jensik, Phillip ; Li, Chen ; Dorrani, Naghmeh ; Kantarci, Sibel ; Blumberg, Bruce ; Grody, Wayne W. ; Strom, Samuel P.
Publisher:England: John Wiley and Sons Inc
Journal title:Clinical case reports, 2017-06, Vol.5 (6), p.833-840
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Mediator complex component MED13 regulates zygotic genome activation and is required for postimplantation development in the mouse
Author / Creator:Miao, Yi-Liang ; Gambini, André s ; Zhang, Yingpei ; Padilla-Banks, Elizabeth ; Jefferson, Wendy N ; Bernhardt, Miranda L ; Huang, Weichun ; Li, Leping ; Williams, Carmen J
Publisher:United States: Society for the Study of Reproduction
Journal title:Biology of reproduction, 2018-04, Vol.98 (4), p.449-464
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ArticlesFull Text
Research from Affiliated Hospital of Qingdao University Reveals New Findings on Pediatrics [Report of a de novo c.2605C T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13...
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2020-07, p.368
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Newsletter articlesFull Text
MED13L foundation to launch natural history study of MED13L syndrome with Boston Children's Hospital
Publisher:NewsRX LLC
Journal title:Pediatrics Week, 2025, p.220
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Vilnius University Researchers Target Gene Editing (Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2023-08, p.686
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Newsletter articlesFull Text
University of Strasbourg Reports Findings in Information Technology (Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review)
Publisher:NewsRX LLC
Journal title:Information Technology Newsweekly, 2025, p.1471
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Redefining the MED13L syndrome

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Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability

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Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome

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Further confirmation of the MED13L haploinsufficiency syndrome

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Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

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MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity

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Cochleovestibular Phenotype in a Rare Genetic MED13L Mutation

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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

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Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

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Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review

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Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome

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The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981)

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A role for Mediator complex subunit MED13L in Rb/E2F-induced growth arrest

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Analysis of Polymorphisms in the Mediator Complex Subunit 13-like (Med13L) Gene in the Context of Immune Function and Development of Experimental Arthritis

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Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes

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Mediator complex component MED13 regulates zygotic genome activation and is required for postimplantation development in the mouse

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Research from Affiliated Hospital of Qingdao University Reveals New Findings on Pediatrics [Report of a de novo c.2605C T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13...

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MED13L foundation to launch natural history study of MED13L syndrome with Boston Children's Hospital

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Vilnius University Researchers Target Gene Editing (Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome)

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University of Strasbourg Reports Findings in Information Technology (Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review)

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