Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Micale, Lucia ^a   Augello, Bartolomeo ^a   Fusco, Carmela ^a   Selicorni, Angelo ^b   Loviglio, Maria N ^a   Silengo, Margherita Cirillo ^c   Reymond, Alexandre ^d   Gumiero, Barbara ^b   Zucchetti, Federica ^b   D'Addetta, Ester V ^a   Belligni, Elga ^c   Calcagn, Alessia ^a   Digilio, Maria C ^e   Dallapiccola, Bruno ^e   Faravelli, Francesca ^f   Forzano, Francesca ^f   Accadia, Maria ^g   Bonfante, Aldo ^h   Clementi, Maurizio ⁱ   Daolio, Cecilia ⁱ   Douzgou, Sofia ^j   Ferrari, Paola ^k   Fischetto, Rita ^l   Garavelli, Livia ^m   Lapi, Elisabetta ⁿ   Mattina, Teresa ^o   Melis, Daniela ^p   Patricelli, Maria G ^q   Priolo, Manuela ^r   Prontera, Paolo ^s   Renieri, Alessandra ^t,aa   Mencarelli, Maria A ^t,aa   Scarano, Gioacchino ^u   Monica, Matteo Della ^u   Toschi, Benedetta ^v   Turolla, Licia ^w   Vancini, Alessandra ^x   Zatterale, Adriana ^y   Gabrielli, Orazio ^z   Zelante, Leopoldo ^a   Merla, Giuseppe ^a   more..

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d UNIVERSITY OF LAUSANNE   (Switzerland)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f GALLIERA HOSPITAL   (Italy)

^g VITO FAZZI HOSPITAL   (Italy)

^h St Bassiano Hospital   (Italy)

ⁱ Dipartimento Pediatria   (Italy)

^j AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^k UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^l POLICLINICO   (Italy)

^m S MARIA NUOVA HOSPITAL   (Italy)

ⁿ UNIVERSITY OF FLORENCE   (Italy)

^o UNIVERSITY OF CATANIA   (Italy)

^p UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^q Diagnostica e Ricerca San Raffaele   (Italy)

^r BIANCHI MELACRINO MORELLI HOSPITAL   (Italy)

^s UNIVERSITY OF PERUGIA   (Italy)

^t UNIVERSITY OF SIENA   (Italy)

^u UOC Genetica Medica   (Italy)

^v UNIVERSITY OF PISA   (Italy)

^w Azienda ULSS 9   (Italy)

^x MAGGIORE HOSPITAL   (Italy)

^y ASL Napoli 1   (Italy)

^z UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^aa Azienda Ospedaliera e Universitaria Senese   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; HISTONE METHYLTRANSFERASE; MLL2 PROTEIN; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; MLL2 PROTEIN, HUMAN; TUMOR PROTEIN;

ALTERNATIVE RNA SPLICING; ARTICLE; CHILD; COHORT ANALYSIS; COMPUTER MODEL; DNA EXTRACTION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INDEL MUTATION; INTRON; KABUKI MAKEUP SYNDROME; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; DNA SEQUENCE; FACE; GENETIC ASSOCIATION; GENETICS; HEMATOLOGIC DISEASE; INTELLECTUAL IMPAIRMENT; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; STOP CODON; VESTIBULAR DISORDER;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; COHORT STUDIES; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FACE; FEMALE; FRAMESHIFT MUTATION; GENETIC ASSOCIATION STUDIES; HEMATOLOGIC DISEASES; HUMANS; INTELLECTUAL DISABILITY; MALE; NEOPLASM PROTEINS; PHENOTYPE; SEQUENCE ANALYSIS, DNA; VESTIBULAR DISEASES;

EID: 79958047953     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-38     Document Type: Article

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