Variants in CUL4B are associated with cerebral malformations

Human Mutation

Volumn 36, Issue 1, 2015, Pages 106-117

  Vulto van Silfhout, Anneke T ^a   Nakagawa, Tadashi ^b   Bahi Buisson, Nadia ^c,d,e   Haas, Stefan A ^f   Hu, Hao ^f   Bienek, Melanie ^f   Vissers, Lisenka E L M ^a   Gilissen, Christian ^a   Tzschach, Andreas ^f,g   Busche, Andreas ^h   Müsebeck, Jörg ⁱ   Rump, Patrick ^j   Mathijssen, Inge B ^k   Avela, Kristiina ^l   Somer, Mirja ^l   Doagu, Fatma ^m   Philips, Anju K ^m   Rauch, Anita ⁿ   Baumer, Alessandra ⁿ   Voesenek, Krysta ^a   Poirier, Karine ^d,e   Vigneron, Jacqueline ^o   Amram, Daniel ^p   Odent, Sylvie ^q   Nawara, Magdalena ^r   Obersztyn, Ewa ^r   Lenart, Jacek ^r   Charzewska, Agnieszka ^r   Lebrun, Nicolas ^d,e   Fischer, Ute ^f   Nillesen, Willy M ^a   Yntema, Helger G ^a   Järvelä, Irma ^m   Ropers, Hans Hilger ^f   de Vries, Bert B A ^a,s   Brunner, Han G ^a   van Bokhoven, Hans ^a,s   Raymond, F Lucy ^t   Willemsen, Michèl A A P ^u   Chelly, Jamel ^d,e   Xiong, Yue ^b   Barkovich, A James ^v   Kalscheuer, Vera M ^f   Kleefstra, Tjitske ^a,s   de Brouwer, Arjan P M ^a,s   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d INSTITUT COCHIN   (France)

^e INSERM   (France)

^f MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^g UNIVERSITY OF TÜBINGEN   (Germany)

^h UNIVERSITY OF FREIBURG   (Germany)

ⁱ UNIVERSITY OF BREMEN   (Germany)

^j UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^k ACADEMIC MEDICAL CENTER   (Netherlands)

^l Rinnekoti Foundation Finland   (Finland)

^m UNIVERSITY OF HELSINKI   (Finland)

ⁿ UNIVERSITY OF ZURICH   (Switzerland)

^o Regional Maternity University Adolphe Pinard   (France)

^p Department of Human Genetics ^*  (France)

^q UNIVERSITÉ DE RENNES 1   (France)

^r INSTITUTE OF MOTHER AND CHILD   (Poland)

^s RADBOUD UNIVERSITY   (Netherlands)

^t UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^u RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^v UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

Cortical dysplasia; CUL4B; Hydrocephalus; Intellectual disability; Mutation; WDR62

Indexed keywords

CUL4B PROTEIN, HUMAN; CULLIN; NERVE PROTEIN; WDR62 PROTEIN, HUMAN;

ADOLESCENT; ADULT; BRAIN; CELL CULTURE; CHILD; CORTICAL DYSPLASIA; DNA SEQUENCE; GENETIC ASSOCIATION; GENETICS; HEK293 CELL LINE; HUMAN; INFANT; MALE; METABOLISM; MIDDLE AGED; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; X LINKED MENTAL RETARDATION; YOUNG ADULT;

ADOLESCENT; ADULT; BRAIN; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CULLIN PROTEINS; GENETIC ASSOCIATION STUDIES; HEK293 CELLS; HUMANS; INFANT; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MENTAL RETARDATION, X-LINKED; MIDDLE AGED; NERVE TISSUE PROTEINS; PEDIGREE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84920074516     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22718     Document Type: Article

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