Variants in CUL4B are Associated with Cerebral Malformations

Anneke T. Vulto-van Silfhout; Tadashi Nakagawa; Nadia Bahi-Buisson; Stefan A. Haas; Hao Hu; Melanie Bienek; Lisenka E.L.M. Vissers; Christian Gilissen; Andreas Tzschach; Andreas Busche; Jörg Müsebeck; Patrick Rump; Inge B. Mathijssen; Kristiina Avela; Mirja Somer; Fatma Doagu; Anju K. Philips; Anita Rauch; Alessandra Baumer; Krysta Voesenek; Karine Poirier; Jacqueline Vigneron; Daniel Amram; Sylvie Odent; Magdalena Nawara; Ewa Obersztyn; Jacek Lenart; Agnieszka Charzewska; Nicolas Lebrun; Ute Fischer; Willy M. Nillesen; Helger G. Yntema; Irma Järvelä; Hans-Hilger Ropers; Bert B.A. de Vries; Han G. Brunner; Hans van Bokhoven; F. Lucy Raymond; Michèl A.A.P. Willemsen; Jamel Chelly; Yue Xiong; A. James Barkovich; Vera M. Kalscheuer; Tjitske Kleefstra; Arjan P.M. de Brouwer

doi:10.1002/humu.22718

Home
Submit
Browse
Search
Services
Open Access at Rennes 1

Journal articles

Variants in CUL4B are Associated with Cerebral Malformations

Anneke T. Vulto-van Silfhout ¹ Tadashi Nakagawa Nadia Bahi-Buisson ² Stefan A. Haas Hao Hu Melanie Bienek Lisenka E.L.M. Vissers ³ Christian Gilissen Andreas Tzschach ⁴ Andreas Busche Jörg Müsebeck Patrick Rump Inge B. Mathijssen ⁵ Kristiina Avela Mirja Somer Fatma Doagu Anju K. Philips ⁶ Anita Rauch ⁷ Alessandra Baumer ⁸ Krysta Voesenek Karine Poirier ⁹ Jacqueline Vigneron ¹⁰ Daniel Amram Sylvie Odent ¹¹ Magdalena Nawara Ewa Obersztyn Jacek Lenart Agnieszka Charzewska Nicolas Lebrun ⁹ Ute Fischer ¹² Willy M. Nillesen ¹³ Helger G. Yntema ¹⁴ Irma Järvelä ¹⁵ Hans-Hilger Ropers ⁴ Bert B.A. de Vries Han G. Brunner ¹⁶ Hans van Bokhoven ¹³ F. Lucy Raymond Michèl A.A.P. Willemsen Jamel Chelly ⁹ Yue Xiong A. James Barkovich Vera M. Kalscheuer ⁴ Tjitske Kleefstra ¹³ Arjan P.M. de Brouwer

1 Department of human genetics

2 Service de Neuropédiatrie

3 Human Genetics

4 Human Molecular Genetics

5 Department of Anatomy, Embryology, Physiology

6 Muscle et pathologies

7 Institute of Medical Genetics

8 Dpt of Operative Dentistry

9 IC UM3 (UMR 8104 / U1016) - Institut Cochin

10 Service de Génétique Clinique [CHRU Nancy]

11 IGDR - Institut de Génétique et Développement de Rennes

12 IMED - Institute for Infectiology

13 849 Department of Human Genetics

14 Department of Genetics

15 Department of Medical and Clinical Genetics [Helsinki]

16 Department of Human Genetics

Anneke T. Vulto-van Silfhout ¹ AuthorId : 1128029
Author

Tadashi Nakagawa AuthorId : 1128030
Author

Nadia Bahi-Buisson ² AuthorId : 420878
Author

Stefan A. Haas AuthorId : 1128031
Author

Hao Hu AuthorId : 437498
Author

Melanie Bienek AuthorId : 1128032
Author

Lisenka E.L.M. Vissers ³ AuthorId : 1128033
Author

Christian Gilissen AuthorId : 1128034
Author

Andreas Tzschach ⁴ AuthorId : 628902
Author

Andreas Busche AuthorId : 1128035
Author

Jörg Müsebeck AuthorId : 1128036
Author

Patrick Rump AuthorId : 1128037
Author

Inge B. Mathijssen ⁵ AuthorId : 1128038
Author

Kristiina Avela AuthorId : 1128039
Author

Mirja Somer AuthorId : 224352
Author

Fatma Doagu AuthorId : 1128040
Author

Anju K. Philips ⁶ AuthorId : 1128041
Author

Anita Rauch ⁷ AuthorId : 237170
Author

Alessandra Baumer ⁸ AuthorId : 1128042
Author

Krysta Voesenek AuthorId : 1128043
Author

Karine Poirier ⁹ AuthorId : 420875
Author

Jacqueline Vigneron ¹⁰ AuthorId : 452539
Author

Daniel Amram AuthorId : 1074342
Author

Sylvie Odent ¹¹ AuthorId : 205306
Author

Magdalena Nawara AuthorId : 1128044
Author

Ewa Obersztyn AuthorId : 1128045
Author

Jacek Lenart AuthorId : 1128046
Author

Agnieszka Charzewska AuthorId : 1128047
Author

Nicolas Lebrun ⁹ AuthorId : 70213
Author

Ute Fischer ¹² AuthorId : 1128048
Author

Willy M. Nillesen ¹³ AuthorId : 1128049
Author

Helger G. Yntema ¹⁴ AuthorId : 1128050
Author

Irma Järvelä ¹⁵ AuthorId : 542298
Author

Hans-Hilger Ropers ⁴ AuthorId : 225753
Author

Bert B.A. de Vries AuthorId : 1128051
Author

Han G. Brunner ¹⁶ AuthorId : 1128052
Author

Hans van Bokhoven ¹³ AuthorId : 225751
Author

F. Lucy Raymond AuthorId : 1128053
Author

Michèl A.A.P. Willemsen AuthorId : 1128054
Author

Jamel Chelly ⁹ AuthorId : 198839
Author

Yue Xiong AuthorId : 1128055
Author

A. James Barkovich AuthorId : 1128056
Author

Vera M. Kalscheuer ⁴ AuthorId : 628910
Author

Tjitske Kleefstra ¹³ AuthorId : 580802
Author

Arjan P.M. de Brouwer AuthorId : 1128057
Author

1 Department of human genetics (6500 HB Nijmegen - Netherlands) StructId : 152904

Radboud University Medical Center [Nijmegen] (P.O. Box 9101 6500 HB Nijmegen - Netherlands) StructId : 305057
Nijmegen Centre for Molecular Life Sciences (France) StructId : 324669
Institute for Genetic and Metabolic Disorders (France) StructId : 342423

2 Service de Neuropédiatrie (Paris - France) StructId : 163896

CHU Necker - Enfants Malades [AP-HP] (149 Rue de Sèvres 75015 Paris - France) StructId : 414766

3 Human Genetics (Nijmegen - Netherlands) StructId : 166814

Radboud University Medical Center [Nijmegen] (P.O. Box 9101 6500 HB Nijmegen - Netherlands) StructId : 305057

4 Human Molecular Genetics (Germany) StructId : 143679

Human Molecular Genetics (France) StructId : 335795

5 Department of Anatomy, Embryology, Physiology (Netherlands) StructId : 167531

Department of Anatomy, Embryology, Physiology (France) StructId : 342495

6 Muscle et pathologies (hopital arnaud de villeneuve 371, avenue du doyen gaston giraud 34295 Montpellier Cedex 05 - France) StructId : 27774

UM1 - Université Montpellier 1 : EA4202 (5, boulevard Henri IV - CS 19044 - 34967 Montpellier cedex - France) StructId : 42570
IFR3 (France) StructId : 300451
- UM1 - Université Montpellier 1 (5, boulevard Henri IV - CS 19044 - 34967 Montpellier cedex - France) StructId : 42570
INSERM - Institut National de la Santé et de la Recherche Médicale : ERI25 (101, rue de Tolbiac, 75013 Paris - France) StructId : 303623

7 Institute of Medical Genetics (8603 Schwerzenbach - Switzerland) StructId : 167202

UZH - University of Zürich [Zürich] (Rämistrasse 71 CH-8006 Zürich - Switzerland) StructId : 133539

8 Dpt of Operative Dentistry (69120;Heidelberg - Germany) StructId : 173675

Section of Periodontology (France) StructId : 343956

9 IC UM3 (UMR 8104 / U1016) - Institut Cochin (22 rue Méchain, 75014 Paris - France) StructId : 106187

UPD5 - Université Paris Descartes - Paris 5 : UM 3 (12, rue de l'École de Médecine - 75270 Paris cedex 06 - France) StructId : 301664
INSERM - Institut National de la Santé et de la Recherche Médicale : U1016 (101, rue de Tolbiac, 75013 Paris - France) StructId : 303623
CNRS - Centre National de la Recherche Scientifique : UMR 8104 (France) StructId : 441569

10 Service de Génétique Clinique [CHRU Nancy] (Service de Génétique Clinique, Maternité régionale Adolphe Pinard, 54000 Nancy - France) StructId : 412342

CHRU Nancy - Centre Hospitalier Régional Universitaire de Nancy (Siège social : 29 avenue du Maréchal de Lattre de Tassigny, CO 60034, 54035 NANCY CEDEX Hôpital Central : 29 Avenue du Maréchal de Lattre de Tassigny, 54035 Nancy Hôpitaux de Brabois / Enfants : Rue du Morvan, 54500 Vandœuvre-lès-Nancy Maternité régionale :10 Avenue Dr Heydenreich, 54000 Nancy - France) StructId : 300157

11 IGDR - Institut de Génétique et Développement de Rennes (Faculté de Médecine - CS 34317 2 Av du Professeur Léon Bernard 35043 Rennes Cedex - France) StructId : 187162

UR1 - Université de Rennes 1 (2 rue du Thabor - CS 46510 - 35065 Rennes cedex - France) StructId : 105160
- UNIV-RENNES - Université de Rennes (France) StructId : 528860
CNRS - Centre National de la Recherche Scientifique : UMR6290 (France) StructId : 441569
Biosit : Biologie - Santé - Innovation Technologique - Structure Fédérative de Recherche en Biologie et Santé de Rennes (Université Rennes 1 - Campus Santé Villejean - 2, avenue Professeur Léon Bernard 35043 Rennes cedex - France) StructId : 453207

12 IMED - Institute for Infectiology (Institut für Infektionsmedizin Greifswald-Insel Riems - Germany) StructId : 256306

FLI - Friedrich-Loeffler-Institut (Federal Research Institute for Animal Health Südufer 10 D-17493 Greifswald - Insel Riems - Germany) StructId : 322700

13 849 Department of Human Genetics (Nijmegen - Netherlands) StructId : 177981

Radboud University Medical Center [Nijmegen] (P.O. Box 9101 6500 HB Nijmegen - Netherlands) StructId : 305057

14 Department of Genetics (Netherlands) StructId : 178114

Department of Genetics (France) StructId : 306205

15 Department of Medical and Clinical Genetics [Helsinki] (Finland) StructId : 219631

Haartman Institute [Helsinki] (Haartmaninkatu 3 (P.O. Box 21) FIN-00014. Helsinki, Finlande. - Finland) StructId : 331950
- Faculty of Medecine [Helsinki] (P.O.Box 63 00014 Helsinki - Finland) StructId : 577357
  - University of Helsinki (Yliopistonkatu 4, 00100 Helsinki - Finland) StructId : 50895

16 Department of Human Genetics (Faculty of Medical Sciences - Geert Grooteplein-Zuid 26 28 - 6525 GA Nijmegen - Netherlands) StructId : 228435

Radboud University Medical Center [Nijmegen] (P.O. Box 9101 6500 HB Nijmegen - Netherlands) StructId : 305057

Keywords : cortical dysplasia WDR62 CUL4B hydrocephalus intellectual disability mutation

Document type :

Journal articles

Domain :

Life Sciences [q-bio]

Complete list of metadatas

https://hal-univ-rennes1.archives-ouvertes.fr/hal-01116441
Contributor : Laurent Jonchère <>
Submitted on : Friday, February 13, 2015 - 2:26:56 PM
Last modification on : Thursday, April 9, 2020 - 11:58:52 AM

Links full text

Identifiers

HAL Id : hal-01116441, version 1
DOI : 10.1002/humu.22718
PUBMED : 25385192

Collections

Citation

Anneke T. Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, Stefan A. Haas, Hao Hu, et al.. Variants in CUL4B are Associated with Cerebral Malformations. Human Mutation, Wiley, 2015, 36 (1), pp.106-117. ⟨10.1002/humu.22718⟩. ⟨hal-01116441⟩

Variants in CUL4B are Associated with Cerebral Malformations

Links full text

Identifiers

Collections

Citation

Export

Metrics

1098

Variants in CUL4B are Associated with Cerebral Malformations

Links full text

Identifiers

Collections

Citation

Export

Share

Metrics

1098