Beckwith-Wiedemann syndrome and uniparental disomy 11p: Fine mapping of the recombination breakpoints and evaluation of several techniques

European Journal of Human Genetics

Volumn 19, Issue 4, 2011, Pages 416-421

  Romanelli, Valeria ^a,b   Meneses, Heloisa N M ^a,b,c   Fernández, Luis ^a,b   Martínez Glez, Victor ^a,b   Gracia Bouthelier, Ricardo ^d,e   F Fraga, Mario ^f   Guillén, Encarna ^g   Nevado, Julián ^a,b   Gean, Esther ^h   Martorell, Loreto ^h   Marfil, Victoria Esteban ⁱ   García Mĩaur, Sixto ^a,b   Lapunzina, Pablo ^a,b,e  

^a HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^d HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^e RESSC   (Spain)

^f UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^g HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^h HOSPITAL SANT JOAN DE DÉU   (Spain)

ⁱ Edif A3   (Spain)

Author keywords

Beckwith Wiedemann syndrome; breakpoint; SNP array; uniparental disomy

Indexed keywords

SOMATOMEDIN B;

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 11P; CHROMOSOME BREAKAGE; CHROMOSOME MAP; CHROMOSOME MOSAICISM; CONTROLLED STUDY; EPIGENETICS; GENE LOCUS; HUMAN; MAJOR CLINICAL STUDY; METHYLATION; PATERNAL UNIPARENTAL DISOMY; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME BREAKPOINTS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; EPIGENOMICS; GENOMIC IMPRINTING; HUMANS; INSULIN-LIKE GROWTH FACTOR II; MICROSATELLITE REPEATS; MOSAICISM; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; SEQUENCE ANALYSIS, DNA; UNIPARENTAL DISOMY;

EID: 79952766938     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.236     Document Type: Article

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