Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

Human Mutation

Volumn 36, Issue 9, 2015, Pages 894-902

  Brioude, Frederic ^a,b,c   Netchine, Irène ^a,b,c   Praz, Francoise ^a,c   Le Jule, Marilyne ^b   Calmel, Claire ^c   Lacombe, Didier ^d,e   Edery, Patrick ^f,g   Catala, Martin ^h,i   Odent, Sylvie ^j,k   Isidor, Bertrand ^l,m   Lyonnet, Stanislas ^n,o   Sigaudy, Sabine ^p   Leheup, Bruno ^q,r   Audebert Bellanger, Séverine ^s   Burglen, Lydie ^b,m   Giuliano, Fabienne ^t   Alessandri, Jean Luc ^u   Cormier Daire, Valérie ^n,v   Laffargue, Fanny ^w   Blesson, Sophie ^x   Coupier, Isabelle ^y   Lespinasse, James ^z   Blanchet, Patricia ^y   Boute, Odile ^aa   Baumann, Clarisse ^ab   Polak, Michel ^n,o   Doray, Berenice ^ac   Verloes, Alain ^ab   Viot, Géraldine ^o   Le Bouc, Yves ^a,b,c   Rossignol, Sylvie ^c,ac   more..

^a SORBONNE UNIVERSITÉ   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^d BORDEAUX UNIVERSITY HOSPITAL   (France)

^e UNIVERSITÉ DE BORDEAUX   (France)

^f HOSPICES CIVILS DE LYON   (France)

^g LYON NEUROSCIENCE RESEARCH CENTER   (France)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

ⁱ Université René Descartes   (France)

^j SERVICE DE RHUMATOLOGIE   (France)

^k UNIVERSITÉ DE RENNES 1   (France)

^l NANTES UNIVERSITY HOSPITAL   (France)

^m INSERM   (France)

ⁿ UNIVERSITÉ PARIS DESCARTES   (France)

^o ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^p TIMONE HOSPITAL   (France)

^q UNIVERSITY HOSPITAL OF NANCY   (France)

^r UNIVERSITÉ DE LORRAINE   (France)

^s CHU MORVAN   (France)

^t CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^u CHU de La Réunion site centre hospitalier Félix Guyon   (France)

^v HÔPITAL NECKER ENFANTS MALADES   (France)

^w UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^x UNIVERSITY HOSPITAL OF TOURS   (France)

^y HÔPITAL ARNAUD DE VILLENEUVE   (France)

^z CENTRE HOSPITALIER DE CHAMBÉRY   (France)

^aa LILLE UNIVERSITY HOSPITAL   (France)

^ab HÔPITAL ROBERT DEBRÉ   (France)

^ac UNIVERSITY HOSPITAL OF STRASBOURG   (France)

more..

Author keywords

Beckwith Wiedemann; CDKN1C; Cell cycle; Imprinting; Overgrowth syndrome

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1C; CDKN1C PROTEIN, HUMAN;

ABDOMINAL WALL DEFECT; ACUTE LYMPHOBLASTIC LEUKEMIA; ADULT; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHILD; CLINICAL ARTICLE; EXON; EXTRACHROMOSOMAL INHERITANCE; FAMILY HISTORY; FETUS; FLOW CYTOMETRY; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; INFANT; INTRON; MALE; MELANOMA; MISSENSE MUTATION; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; MOTHER; MUTATIONAL ANALYSIS; NEUROBLASTOMA; PATHOGENESIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; UMBILICAL HERNIA; ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BECKWITH-WIEDEMANN SYNDROME; FEMALE; GENETIC ASSOCIATION STUDY; GENETICS; GENOME IMPRINTING; GENOTYPE; METABOLISM; MUTATION; SEQUENCE ALIGNMENT;

ALLELES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BECKWITH-WIEDEMANN SYNDROME; CYCLIN-DEPENDENT KINASE INHIBITOR P57; FEMALE; GENETIC ASSOCIATION STUDIES; GENOMIC IMPRINTING; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT;

EID: 84938998880     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22824     Document Type: Article

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