Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

Journal of Medical Genetics

Volumn 45, Issue 2, 2008, Pages 106-113

  Scott, Richard H ^a   Douglas, J ^a   Baskcomb, L ^a   Nygren, A O ^b   Birch, J M ^c   Cole, T R ^d   Cormier Daire, V ^e   Eastwood, D M ^f   Garcia Minaur, S ^g   Lupunzina, P ^h   Tatton Brown, K ⁱ   Bliek, J ^j   Maher, E R ^k   Rahman, N ^a  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b MRC HOLLAND   (Netherlands)

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^d BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g Kennedy Galton Centre   (United Kingdom)

^h HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

ⁱ ST GEORGE'S UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^j ACADEMIC MEDICAL CENTER   (Netherlands)

^k UNIVERSITY OF BIRMINGHAM   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 11P; CHROMOSOME ABERRATION; CONTROLLED STUDY; EPIGENETICS; GENE AMPLIFICATION; GROWTH DISORDER; GROWTH RETARDATION; HUMAN; METHYLATION; METHYLATION SPECIFIC MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; OVERGROWTH; PRIORITY JOURNAL;

BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; EPIGENESIS, GENETIC; FEMALE; GENE DOSAGE; GENOMIC IMPRINTING; GROWTH DISORDERS; HUMANS; MALE; MICROSATELLITE REPEATS; MOLECULAR PROBE TECHNIQUES; NUCLEIC ACID AMPLIFICATION TECHNIQUES;

EID: 39149142187     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.053207     Document Type: Article

References (21)

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