A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells.

by Ioannis Gavvovidis, Isabell Rost, Marc Trimborn, Frank J Kaiser, Josephine Purps, Constanze Wiek, Helmut Hanenberg, Heidemarie Neitzel, Detlev Schindler
Published 2012-01-01

Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome

by Natalia Krawczynska, Natalia Krawczynska, Alina Kuzniacka, Alina Kuzniacka, Jolanta Wierzba, Jolanta Wierzba, Ilaria Parenti, Frank J. Kaiser, Bartosz Wasag, Bartosz Wasag
Published 2018-07-01

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

by Luisa Paul, Katrin Rupprich, Adela Della Marina, Anja Stein, Magdeldin Elgizouli, Frank J. Kaiser, Bernd Schweiger, Angela Köninger, Antonella Iannaccone, Ute Hehr, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt, Alma Kuechler
Published 2020-09-01

Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.

by Jessica Zuin, Valentina Casa, Jelena Pozojevic, Petros Kolovos, Mirjam C G N van den Hout, Wilfred F J van Ijcken, Ilaria Parenti, Diana Braunholz, Yorann Baron, Erwan Watrin, Frank J Kaiser, Kerstin S Wendt
Published 2017-12-01

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lan...

by Beatriz Puisac, María-Esperanza Teresa-Rodrigo, María Hernández-Marcos, Carolina Baquero-Montoya, María-Concepción Gil-Rodríguez, Torkild Visnes, Christopher Bot, Paulino Gómez-Puertas, Frank J. Kaiser, Feliciano J. Ramos, Lena Ström, Juan Pié
Published 2017-02-01

Coronary heart disease-associated variation in TCF21 disrupts a miR-224 binding site and miRNA-mediated regulation.

by Clint L Miller, Ulrike Haas, Roxanne Diaz, Nicholas J Leeper, Ramendra K Kundu, Bhagat Patlolla, Themistocles L Assimes, Frank J Kaiser, Ljubica Perisic, Ulf Hedin, Lars Maegdefessel, Heribert Schunkert, Jeanette Erdmann, Thomas Quertermous, Georg Sczakiel
Published 2014-03-01

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

by Ana Latorre-Pellicer, Ángela Ascaso, Laura Trujillano, Marta Gil-Salvador, Maria Arnedo, Cristina Lucia-Campos, Rebeca Antoñanzas-Pérez, Iñigo Marcos-Alcalde, Ilaria Parenti, Gloria Bueno-Lozano, Antonio Musio, Beatriz Puisac, Frank J. Kaiser, Feliciano J. Ramos, Paulino Gómez-Puertas, Juan Pié
Published 2020-02-01

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

by María E. Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, Jelena Pozojevic, Ilaria Parenti, Carolina Baquero-Montoya, María C. Gil-Rodríguez, Diana Braunholz, Andreas Dalski, María Hernández-Marcos, Ariadna Ayerza, María L. Bernal, Feliciano J. Ramos, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Juan Pié, Frank J. Kaiser
Published 2016-01-01

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

by María E. Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, Andreas Dalski, María C. Gil-Rodríguez, Diana Braunholz, Carolina Baquero, María Hernández-Marcos, Juan C. de Karam, Milagros Ciero, Fernando Santos-Simarro, Pablo Lapunzina, Jolanta Wierzba, César H. Casale, Feliciano J. Ramos, Gabriele Gillessen-Kaesbach, Frank J. Kaiser, Juan Pié
Published 2014-06-01

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

by Ilaria Parenti, Farah Diab, Sara Ruiz Gil, Eskeatnaf Mulugeta, Valentina Casa, Riccardo Berutti, Rutger W.W. Brouwer, Valerie Dupé, Juliane Eckhold, Elisabeth Graf, Beatriz Puisac, Feliciano Ramos, Thomas Schwarzmayr, Macarena Moronta Gines, Thomas van Staveren, Wilfred F.J. van IJcken, Tim M. Strom, Juan Pié, Erwan Watrin, Frank J. Kaiser, Kerstin S. Wendt
Published 2020-05-01

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

by Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Iñigo Marcos-Alcalde, María Arnedo, Ángela Ascaso, Ariadna Ayerza-Casas, Rebeca Antoñanzas-Pérez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gómez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié
Published 2021-07-01

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

by Yulia Kargapolova, Rizwan Rehimi, Hülya Kayserili, Joanna Brühl, Konstantinos Sofiadis, Anne Zirkel, Spiros Palikyras, Athanasia Mizi, Yun Li, Gökhan Yigit, Alexander Hoischen, Stefan Frank, Nicole Russ, Jonathan Trautwein, Bregje van Bon, Christian Gilissen, Magdalena Laugsch, Eduardo Gade Gusmao, Natasa Josipovic, Janine Altmüller, Peter Nürnberg, Gernot Längst, Frank J. Kaiser, Erwan Watrin, Han Brunner, Alvaro Rada-Iglesias, Leo Kurian, Bernd Wollnik, Karim Bouazoune, Argyris Papantonis
Published 2021-05-01

Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism

by Björn-Hergen Laabs, Christine Klein, Jelena Pozojevic, Aloysius Domingo, Norbert Brüggemann, Karen Grütz, Raymond L. Rosales, Roland Dominic Jamora, Gerard Saranza, Cid Czarina E. Diesta, Michael Wittig, Susen Schaake, Marija Dulovic-Mahlow, Jana Quismundo, Pia Otto, Patrick Acuna, Criscely Go, Nutan Sharma, Trisha Multhaupt-Buell, Ulrich Müller, Henrike Hanssen, Fabian Kilpert, Andre Franke, Arndt Rolfs, Peter Bauer, Valerija Dobričić, Katja Lohmann, Laurie J. Ozelius, Frank J. Kaiser, Inke R. König, Ana Westenberger
Published 2021-05-01

Schuurs–Hoeijmakers Syndrome (<em>PACS1</em> Neurodevelopmental Disorder): Seven Novel Patients and a Review

by Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina
Published 2021-05-01