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

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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

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

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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

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Variants in CUL4B are Associated with Cerebral Malformations

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