Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.

Journal of medical genetics

Volumn 43, Issue 8, 2006, Pages

  Russo, S ^a   Finelli, P ^a   Recalcati, M P ^a   Ferraiuolo, S ^a   Cogliati, F ^a   Dalla Bernardina, B ^a   Tibiletti, M G ^a   Agosti, M ^a   Sala, M ^a   Bonati, M T ^a   Larizza, L ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE; KCNQ1OT1 PROTEIN, HUMAN; MEMBRANE PROTEIN; MICROSATELLITE DNA; VOLTAGE GATED POTASSIUM CHANNEL;

BECKWITH WIEDEMANN SYNDROME; CHILD; CHROMOSOME 11; CHROMOSOME ABERRATION; CHROMOSOME MAP; CHROMOSOME SEGREGATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENETICS; GENOME; HUMAN; INFANT; LETTER; MALE; METABOLISM; METHYLATION; NEWBORN; PEDIGREE;

BECKWITH-WIEDEMANN SYNDROME; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; GENE DUPLICATION; GENOME, HUMAN; HISTONES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; METHYLATION; MICROSATELLITE REPEATS; PEDIGREE; PHYSICAL CHROMOSOME MAPPING; POTASSIUM CHANNELS, VOLTAGE-GATED;

EID: 33847254533     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2005.038398     Document Type: Letter

References (0)