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by Hengel, Holger and Bosso-Lefèvre, Célia and Grady, George and Szenker-Ravi, Emmanuelle and Li, Hankun and Pierce, Sarah and Lebigot, Élise and Tan, Thong-Teck and Eio, Michelle Y and Narayanan, Gunaseelan and Utami, Kagistia Hana and Yau, Monica and Handal, Nader and Deigendesch, Werner and Keimer, Reinhard and Marzouqa, Hiyam M and Gunay-Aygun, Meral and Muriello, Michael J and Verhelst, Helene and Weckhuysen, Sarah and Mahida, Sonal and Naidu, Sakkubai and Thomas, Terrence G and Lim, Jiin Ying and Tan, Ee Shien and Haye, Damien and Willemsen, Michèl A. A. P and Oegema, Renske and Mitchell, Wendy G and Pierson, Tyler Mark and Andrews, Marisa V and Willing, Marcia C and Rodan, Lance H and Barakat, Tahsin Stefan and van Slegtenhorst, Marjon and Gavrilova, Ralitza H and Martinelli, Diego and Gilboa, Tal and Tamim, Abdullah M and Hashem, Mais O and AlSayed, Moeenaldeen D and Abdulrahim, Maha M and Al-Owain, Mohammed and Awaji, Ali and Mahmoud, Adel A. H and Faqeih, Eissa A and Asmari, Ali Al and Algain, Sulwan M and Jad, Lamyaa A and Aldhalaan, Hesham M and Helbig, Ingo and Koolen, David A and Riess, Angelika and Kraegeloh-Mann, Ingeborg and Bauer, Peter and Gulsuner, Suleyman and Stamberger, Hannah and Ng, Alvin Yu Jin and Tang, Sha and Tohari, Sumanty and Keren, Boris and Schultz-Rogers, Laura E and Klee, Eric W and Barresi, Sabina and Tartaglia, Marco and Mor-Shaked, Hagar and Maddirevula, Sateesh and Begtrup, Amber and Telegrafi, Aida and Pfundt, Rolph and Schüle, Rebecca and Ciruna, Brian and Bonnard, Carine and Pouladi, Mahmoud A and Stewart, James C and Claridge-Chang, Adam and Lefeber, Dirk J and Alkuraya, Fowzan S and Mathuru, Ajay S and Venkatesh, Byrappa and Barycki, Joseph J and Simpson, Melanie A and Jamuar, Saumya S and Schöls, Ludger and Reversade, Bruno
Nature communications, ISSN 2041-1723, 2020, Volume 11, Issue 1, pp. 595 - 16
Journal Article
PLoS genetics, ISSN 1553-7390, 05/2017, Volume 13, Issue 5, p. e1006809
...Author(s): Renske Oegema 1, David Baillat 2, Rachel Schot 1, Leontine M. van Unen 1, Alice Brooks 1, Sima Kheradmand Kia 1, A. Jeannette M. Hoogeboom 1, Zheng... 
RNA-POLYMERASE-II | NEURONAL DEVELOPMENT | MALFORMATIONS | PROTEIN | SPLICING REGULATION | EMBRYO | 3' END FORMATION | U4ATAC SNRNA | GENETICS & HEREDITY | GENE-EXPRESSION | CORTICAL DEVELOPMENT | Wnt1 Protein | Alternative Splicing | Humans | Transcriptome | Male | Developmental Disabilities - genetics | Brain - growth & development | Mutation, Missense | RNA, Messenger - metabolism | Protein Subunits - metabolism | Brain - metabolism | Gene Deletion | HEK293 Cells | Adult | Female | Child | Developmental Disabilities - diagnosis | Fibroblasts - metabolism | Protein Subunits - genetics | RNA, Messenger - genetics | Cells, Cultured | Syndrome | Pedigree | Brain - pathology | Heterozygote | HeLa Cells | Mutation | Brain | Care and treatment | Research | Gene mutations | Abnormalities | RNA polymerases | Pediatrics | Alternative splicing | Transcription | Leukocyte migration | Gene regulation | Disorders | Colleges & universities | Editing | Genomes | Biochemistry | Gene deletion | Neurodevelopmental disorders | DNA-directed RNA polymerase | Delay | Defects | Proteins | Control | Missense mutation | Clonal deletion | RNA processing | Bioinformatics | Ventricle (lateral) | Siblings | Maturation | Cortex | RNA polymerase | Gene expression | Ribonucleic acid--RNA | Patients | Medicine | Polymerase | Brain research | Cellular biology | Genetic engineering | Molecular biology | Differentiation | Compatibility | Retinoic acid | Cell migration | RNA polymerase II | Integrity | RNA | Ribonucleic acid
Journal Article
by Baldassari, Sara and Picard, Fabienne and Verbeek, Nienke E and van Kempen, Marjan and Brilstra, Eva H and Lesca, Gaetan and Conti, Valerio and Guerrini, Renzo and Bisulli, Francesca and Licchetta, Laura and Pippucci, Tommaso and Tinuper, Paolo and Hirsch, Edouard and de Saint Martin, Anne and Chelly, Jamel and Rudolf, Gabrielle and Chipaux, Mathilde and Ferrand-Sorbets, Sarah and Dorfmüller, Georg and Sisodiya, Sanjay and Balestrini, Simona and Schoeler, Natasha and Hernandez-Hernandez, Laura and Krithika, S and Oegema, Renske and Hagebeuk, Eveline and Gunning, Boudewijn and Deckers, Charles and Berghuis, Bianca and Wegner, Ilse and Niks, Erik and Jansen, Floor E and Braun, Kees and de Jong, Daniëlle and Rubboli, Guido and Talvik, Inga and Sander, Valentin and Uldall, Peter and Jacquemont, Marie-Line and Nava, Caroline and Leguern, Eric and Julia, Sophie and Gambardella, Antonio and d’Orsi, Giuseppe and Crichiutti, Giovanni and Faivre, Laurence and Darmency, Veronique and Benova, Barbora and Krsek, Pavel and Biraben, Arnaud and Lebre, Anne-Sophie and Jennesson, Mélanie and Sattar, Shifteh and Marchal, Cécile and Nordli, Douglas R and Lindstrom, Kristin and Striano, Pasquale and Lomax, Lysa Boissé and Kiss, Courtney and Bartolomei, Fabrice and Lepine, Anne Fabienne and Schoonjans, An-Sofie and Stouffs, Katrien and Jansen, Anna and Panagiotakaki, Eleni and Ricard-Mousnier, Brigitte and Thevenon, Julien and de Bellescize, Julitta and Catenoix, Hélène and Dorn, Thomas and Zenker, Martin and Müller-Schlüter, Karen and Brandt, Christian and Krey, Ilona and Polster, Tilman and Wolff, Markus and Balci, Meral and Rostasy, Kevin and Achaz, Guillaume and Zacher, Pia and Becher, Thomas and Cloppenborg, Thomas and Yuskaitis, Christopher J and Weckhuysen, Sarah and Poduri, Annapurna and Lemke, Johannes R and Møller, Rikke S and Baulac, Stéphanie
Genetics in medicine, ISSN 1530-0366, 2018, Volume 21, Issue 2, pp. 398 - 408
Journal Article
Nucleic acids research, ISSN 1362-4962, 2019, Volume 47, Issue D1, pp. D1018 - D1027
Journal Article
European journal of human genetics : EJHG, ISSN 1476-5438, 2012, Volume 20, Issue 8, pp. 844 - 851
... Hollander7, Renske Oegema1, Douglas B Gould4 and Grazia MS Mancini*,1 Familial porencephaly, leukoencephalopathy and small-vessel disease belong to the spectrum... 
COL4A2 | porencephaly | small-vessel disease | collagen-IV | APOPTOSIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | IV COLLAGEN | MOUSE | GROWTH | GENETICS & HEREDITY | EXPRESSION | DOMAINS | BRAIN | Basement Membrane - ultrastructure | Exons | Humans | Brain Diseases - genetics | Child, Preschool | Apoptosis - genetics | Infant | Male | Intracranial Aneurysm - diagnosis | Basement Membrane - pathology | Young Adult | Hemiplegia - diagnosis | Base Sequence | Porencephaly | Adult | Female | Child | Skin - pathology | Genetic Predisposition to Disease | Brain Diseases - diagnosis | Intracranial Aneurysm - genetics | Mice, Knockout | Magnetic Resonance Imaging | Animals | Hemiplegia - genetics | Pedigree | Collagen Type IV - deficiency | Endoplasmic Reticulum Stress | Adolescent | Brain - pathology | Collagen Type IV - genetics | Skin - ultrastructure | Heterozygote | Consanguinity | Mice | Mutation | Cataracts | Cerebellum | Hydrocephalus | Aneurysm | Cardiovascular disease | Leukoencephalopathy | Bleeding | Proteins | Fibroblasts | Genetics | Collagen (type IV) | Muscle pain | Hypoplasia | Phenotypes | Congenital diseases | Optic nerve | Basement membranes | Electron microscopy | Substantia alba | Cysts | Biopsy | Collagen | Skin | Endoplasmic reticulum | Apoptosis | Risk factors | Stress | genomics | Cerebrovascular diseases
Journal Article
Neurogenetics, ISSN 1364-6745, 2012, Volume 14, Issue 1, pp. 43 - 51
Journal Article