Works matching AU Oegema, Renske

Results: 24

Recognisable Neuroradiological Findings in Five Neurogenetic Disorders.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 13, doi. 10.1111/cge.14637

By:

Rosenblum, Jessica;
Meuwissen, Marije;
Jansen, Anna C.;
Oegema, Renske;
Reddy, Nihaal;
Mankad, Kshitij;
Sudhakar, Sniya

Publication type:

Article

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 259, doi. 10.1111/cge.13874

By:

Jacobs, Eva Z.;
Brown, Kathleen;
Byler, Melissa C.;
D'haenens, Erika;
Dheedene, Annelies;
Henderson, Lindsay B.;
Humberson, Jennifer B.;
Jaarsveld, Richard H.;
Kanani, Farah;
Lebel, Robert Roger;
Millan, Francisca;
Oegema, Renske;
Oostra, Ann;
Parker, Michael J.;
Rhodes, Lindsay;
Saenz, Margarita;
Seaver, Laurie H.;
Si, Yue;
Vanlander, Arnaud;
Vergult, Sarah

Publication type:

Article

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 844, doi. 10.1038/ejhg.2012.20

By:

Verbeek, Elly;
Meuwissen, Marije EC;
Verheijen, Frans W;
Govaert, Paul P;
Licht, Daniel J;
Kuo, Debbie S;
Poulton, Cathryn J;
Schot, Rachel;
Lequin, Maarten H;
Dudink, Jeroen;
Halley, Dicky J;
de Coo, René IF;
den Hollander, Jan C;
Oegema, Renske;
Gould, Douglas B;
Mancini, Grazia MS

Publication type:

Article

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.

Published in:

2020

By:

Lin Li;
Ghorbani, Mohammad;
Weisz-Hubshman, Monika;
Rousseau, Justine;
Thiffault, Isabelle;
Schnur, Rhonda E.;
Breen, Catherine;
Oegema, Renske;
Weiss, Marjan M. M.;
Waisfisz, Quinten;
Welner, Sara;
Kingston, Helen;
Hills, Jordan A.;
Boon, Elles M. J.;
Basel-Salmon, Lina;
Konen, Osnat;
Goldberg-Stern, Hadassa;
Bazak, Lily;
Tzur, Shay;
Jin, Jianliang

Publication type:

journal article

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.

Published in:

Neurogenetics, 2013, v. 14, n. 1, p. 43, doi. 10.1007/s10048-012-0351-8

By:

Poulton, Cathryn;
Oegema, Renske;
Heijsman, Daphne;
Hoogeboom, Jeannette;
Schot, Rachel;
Stroink, Hans;
Willemsen, Michèl;
Verheijen, Frans;
Spek, Peter;
Kremer, Andreas;
Mancini, Grazia

Publication type:

Article

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.

Published in:

Nature Neuroscience, 2014, v. 17, n. 7, p. 923, doi. 10.1038/nn.3729

By:

Kielar, Michel;
Tuy, Françoise Phan Dinh;
Bizzotto, Sara;
Lebrand, Cécile;
de Juan Romero, Camino;
Poirier, Karine;
Oegema, Renske;
Mancini, Grazia Maria;
Bahi-Buisson, Nadia;
Olaso, Robert;
Le Moing, Anne-Gaëlle;
Boutourlinsky, Katia;
Boucher, Dominique;
Carpentier, Wassila;
Berquin, Patrick;
Deleuze, Jean-François;
Belvindrah, Richard;
Borrell, Victor;
Welker, Egbert;
Chelly, Jamel

Publication type:

Article

Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

Published in:

2021

By:

Levy, Michael A.;
Beck, David B.;
Metcalfe, Kay;
Douzgou, Sofia;
Sithambaram, Sivagamy;
Cottrell, Trudie;
Ansar, Muhammad;
Kerkhof, Jennifer;
Mignot, Cyril;
Nougues, Marie-Christine;
Keren, Boris;
Moore, Hannah W.;
Oegema, Renske;
Giltay, Jacques C.;
Simon, Marleen;
van Jaarsveld, Richard H.;
Bos, Jessica;
van Haelst, Mieke;
Motazacker, M. Mahdi;
Boon, Elles M. J.

Publication type:

Correction Notice

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00256-y

By:

Levy, Michael A.;
Beck, David B.;
Metcalfe, Kay;
Douzgou, Sofia;
Sithambaram, Sivagamy;
Cottrell, Trudie;
Ansar, Muhammad;
Kerkhof, Jennifer;
Mignot, Cyril;
Nougues, Marie-Christine;
Keren, Boris;
Moore, Hannah W.;
Oegema, Renske;
Giltay, Jacques C.;
Simon, Marleen;
van Jaarsveld, Richard H.;
Bos, Jessica;
van Haelst, Mieke;
Motazacker, M. Mahdi;
Boon, Elles M. J.

Publication type:

Article

The spectrum of brain malformations and disruptions in twins.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2690, doi. 10.1002/ajmg.a.61972

By:

Park, Kaylee B.;
Chapman, Teresa;
Aldinger, Kimberly A.;
Mirzaa, Ghayda M.;
Zeiger, Jordan;
Beck, Anita;
Glass, Ian A.;
Hevner, Robert F.;
Jansen, Anna C.;
Marshall, Desiree A.;
Oegema, Renske;
Parrini, Elena;
Saneto, Russell P.;
Curry, Cynthia J.;
Hall, Judith G.;
Guerrini, Renzo;
Leventer, Richard J.;
Dobyns, William B.

Publication type:

Article

Novel no-stop FLNA mutation causes multi-organ involvement in males.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2376, doi. 10.1002/ajmg.a.36109

By:

Oegema, RENske;
Hulst, Jessie M.;
Theuns ‐ Valks, Sabine D.M.;
van UnEN, Leontine M.A.;
Schot, Rachel;
Mancini, Grazia M.S.;
Schipper, Marguerite E.I.;
de Wit, Marie C.Y.;
Sibbles, Barbara J.;
de Coo, IrENaeus F.M.;
Nanninga, Veerle;
Hofstra, Robert M.W.;
Halley, Dicky J.J.;
Brooks, Alice S.

Publication type:

Article

Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1472, doi. 10.1002/ajmg.a.35365

By:

Oegema, Renske;
Maat-Kievit, Anneke;
Lequin, Maarten H.;
Schot, Rachel;
Nanninga- van den Neste, Veerle M.H.;
Doornbos, Marianne E.;
de Wit, Marie C.Y.;
Halley, Dicky J.;
Mancini, Grazia M.S.

Publication type:

Article

Prenatal assessment of brain malformations on neuroimaging: an expert panel review.

Published in:

Brain: A Journal of Neurology, 2024, v. 147, n. 12, p. 3982, doi. 10.1093/brain/awae253

By:

Pogledic, Ivana;
Mankad, Kshitij;
Severino, Mariasavina;
Lerman-Sagie, Tally;
Jakab, Andras;
Hadi, Efrat;
Jansen, Anna C;
Bahi-Buisson, Nadia;
Donato, Natalya Di;
Oegema, Renske;
Mitter, Christian;
Capo, Ivan;
Whitehead, Matthew T;
Haldipur, Parthiv;
Mancini, Grazia;
Huisman, Thierry A G M;
Righini, Andrea;
Dobyns, Bill;
Barkovich, James A;
Milosevic, Natasa Jovanov

Publication type:

Article

When brain size matters: novel insights into brain volume control.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3112, doi. 10.1093/brain/awad230

By:

Oegema, Renske

Publication type:

Article

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Published in:

2022

By:

Galosi, Serena;
Edani, Ban H;
Martinelli, Simone;
Hansikova, Hana;
Eklund, Erik A;
Caputi, Caterina;
Masuelli, Laura;
Corsten-Janssen, Nicole;
Srour, Myriam;
Oegema, Renske;
Bosch, Daniëlle G M;
Ellis, Colin A;
Amlie-Wolf, Louise;
Accogli, Andrea;
Atallah, Isis;
Averdunk, Luisa;
Barañano, Kristin W;
Bei, Roberto;
Bagnasco, Irene;
Brusco, Alfredo

Publication type:

journal article

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Published in:

2019

By:

Vandervore, Laura V;
Schot, Rachel;
Kasteleijn, Esmee;
Oegema, Renske;
Stouffs, Katrien;
Gheldof, Alexander;
Grochowska, Martyna M;
Sterre, Marianne L T van der;
Unen, Leontine M A van;
Wilke, Martina;
Elfferich, Peter;
Spek, Peter J van der;
Heijsman, Daphne;
Grandone, Anna;
Demmers, Jeroen A A;
Dekkers, Dick H W;
Slotman, Johan A;
Kremers, Gert-Jan;
Schaaf, Gerben J;
Masius, Roy G

Publication type:

journal article

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Published in:

2018

By:

Marini, Carla;
Porro, Alessandro;
Rastetter, Agnès;
Dalle, Carine;
Rivolta, Ilaria;
Bauer, Daniel;
Oegema, Renske;
Nava, Caroline;
Parrini, Elena;
Mei, Davide;
Mercer, Catherine;
Dhamija, Radhika;
Chambers, Chelsea;
Coubes, Christine;
Thévenon, Julien;
Kuentz, Paul;
Julia, Sophie;
Pasquier, Laurent;
Dubourg, Christèle;
Carré, Wilfrid

Publication type:

journal article

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

Published in:

2017

By:

Niturad, Cristina Elena;
Lev, Dorit;
Kalscheuer, Vera M.;
Charzewska, Agnieszka;
Schubert, Julian;
Lerman-Sagie, Tally;
Kroes, Hester Y.;
Oegema, Renske;
Traverso, Monica;
Specchio, Nicola;
Lassota, Maria;
Chelly, Jamel;
Bennett-Back, Odeya;
Carmi, Nirit;
Koffler-Brill, Tal;
Iacomino, Michele;
Trivisano, Marina;
Capovilla, Giuseppe;
Striano, Pasquale;
Nawara, Magdalena

Publication type:

journal article

A single strand that links multiple neuropathologies in human disease.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. e266, doi. 10.1093/brain/awt197

By:

Oegema, Renske;
Poulton, Cathryn J.;
Mancini, Grazia M. S.

Publication type:

Article

EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 627, doi. 10.1002/ajmg.c.31751

By:

Oegema, Renske;
McGillivray, George;
Leventer, Richard;
Le Moing, Anne‐Gaëlle;
Bahi‐Buisson, Nadia;
Barnicoat, Angela;
Mandelstam, Simone;
Francis, David;
Francis, Fiona;
Mancini, Grazia M. S.;
Savelberg, Sanne;
Haaften, Gijs;
Mankad, Kshitij;
Lequin, Maarten H.

Publication type:

Article

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.

Published in:

Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2015.00085

By:

Kalscheuer, Vera M.;
James, Victoria M.;
Himelright, Miranda L.;
Long, Philip;
Oegema, Renske;
Jensen, Corinna;
Bienek, Melanie;
Hao Hu;
Haas, Stefan A.;
Topf, Maya;
Hoogeboom, A. Jeannette M.;
Harvey, Kirsten;
Walikonis, Randall;
Harvey, Robert J.;
Hiroyuki Sakagami;
Shoubridge, Cheryl

Publication type:

Article

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Published in:

2017

By:

Oegema, Renske;
Baillat, David;
Schot, Rachel;
van Unen, Leontine M.;
Brooks, Alice;
Kia, Sima Kheradmand;
Hoogeboom, A. Jeannette M.;
Xia, Zheng;
Li, Wei;
Cesaroni, Matteo;
Lequin, Maarten H.;
van Slegtenhorst, Marjon;
Dobyns, William B.;
de Coo, Irenaeus F. M.;
van den Berg, Debbie;
Verheijen, Frans W.;
Kremer, Andreas;
van der Spek, Peter J.;
Heijsman, Daphne;
Wagner, Eric J.

Publication type:

Correction Notice

Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Published in:

PLoS Genetics, 2017, v. 13, n. 5, p. 1, doi. 10.1371/journal.pgen.1006809

By:

Oegema, Renske;
Baillat, David;
Schot, Rachel;
van Unen, Leontine M.;
Brooks, Alice;
Kia, Sima Kheradmand;
Hoogeboom, A. Jeannette M.;
Xia, Zheng;
Li, Wei;
Cesaroni, Matteo;
Lequin, Maarten H.;
van Slegtenhorst, Marjon;
Dobyns, William B.;
de Coo, Irenaeus F. M.;
Verheijen, Frans W.;
Kremer, Andreas;
van der Spek, Peter J.;
Heijsman, Daphne;
Wagner, Eric J.;
Fornerod, Maarten

Publication type:

Article

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5313, doi. 10.1093/hmg/ddv250

By:

Oegema, Renske;
Cushion, Thomas D.;
Phelps, Ian G.;
Seo-Kyung Chung;
Dempsey, Jennifer C.;
Collins, Sarah;
Mullins, Jonathan G. L.;
Dudding, Tracy;
Gill, Harinder;
Green, Andrew J.;
Dobyns, William B.;
Ishak, Gisele E.;
Rees, Mark I.;
Doherty, Dan

Publication type:

Article

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Published in:

Cell Death & Disease, 2024, v. 15, n. 5, p. 1, doi. 10.1038/s41419-024-06768-6

By:

Werren, Elizabeth A.;
Peirent, Emily R.;
Jantti, Henna;
Guxholli, Alba;
Srivastava, Kinshuk Raj;
Orenstein, Naama;
Narayanan, Vinodh;
Wiszniewski, Wojciech;
Dawidziuk, Mateusz;
Gawlinski, Pawel;
Umair, Muhammad;
Khan, Amjad;
Khan, Shahid Niaz;
Geneviève, David;
Lehalle, Daphné;
van Gassen, K. L. I.;
Giltay, Jacques C.;
Oegema, Renske;
van Jaarsveld, Richard H.;
Rafiullah, Rafiullah

Publication type:

Article