Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

Journal of Medical Genetics

Volumn 48, Issue 5, 2011, Pages 308-311

  Grønskov, Karen ^a   Poole, Rebecca L ^b,c,d   Hahnemann, Johanne M D ^a   Thomson, Jennifer ^e   Tümer, Zeynep ^a   Brøndum Nielsen, Karen ^a   Murphy, Rinki ^f   Ravn, Kirstine ^a   Melchior, Linea ^a   Dedic, Alma ^a   Dolmer, Birgitte ^g   Temple, I Karen ^b,d   Boonen, Susanne E ^a,h   Mackay, Deborah J G ^b,d  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^c SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^e CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^f UNIVERSITY OF AUCKLAND   (New Zealand)

^g NAESTVED HOSPITAL   (Denmark)

^h UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 11P; ENHANCER REGION; FACE DYSMORPHIA; FEMALE; GENE CONTROL; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC TRANSCRIPTION; GENOME IMPRINTING; GROWTH RETARDATION; HUMAN; MALE; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME;

ADULT; ALLELES; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 11; ENHANCER ELEMENTS, GENETIC; FEMALE; GENE DELETION; GENE ORDER; GENE REARRANGEMENT; HUMANS; INFANT; INSULIN-LIKE GROWTH FACTOR II; MALE; RNA, UNTRANSLATED; SILVER-RUSSELL SYNDROME;

EID: 79955544035     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.086504     Document Type: Article

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