Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Clinical Epigenetics

Volumn 7, Issue 1, 2015, Pages

  Eggermann, Thomas ^a,m,n   Perez de Nanclares, Guiomar ^b   Maher, Eamonn R ^c   Temple, I Karen ^d,e   Tümer, Zeynep ^f   Monk, David ^g   Mackay, Deborah J G ^d,e   Grønskov, Karen ^f   Riccio, Andrea ^h   Linglart, Agnès ⁱ   Netchine, Irène ^j,k,l  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b HOSPITAL TXAGORRITXU   (Spain)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^e PRINCESS ANNE HOSPITAL   (United Kingdom)

^f Rigshospitalet   (Denmark)

^g HOSPITAL DURAN I REYNALS   (Spain)

^h SECOND UNIVERSITY OF NAPLES   (Italy)

ⁱ INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^j ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^k INSERM   (France)

^l CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^m SORBONNE UNIVERSITÉ   (France)

ⁿ ARMAND TROUSSEAU HOSPITAL   (France)

more..

Author keywords

Epimutation; Imprinted genes; Imprinting disorders; Uniparental disomy

Indexed keywords

DNA;

BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 16; CHROMOSOME 20; CHROMOSOME 6; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CONGENITAL IMPRINTING DISORDER; DEVELOPMENT; DNA SEQUENCE; EPIGENETICS; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; GENOME IMPRINTING; GROWTH; HAPPY PUPPET SYNDROME; HUMAN; KAGAMI OGATA SYNDROME; METABOLISM; PATHOGENESIS; PRADER WILLI SYNDROME; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; REVIEW; SILVER RUSSELL SYNDROME; TEMPLE SYNDROME; TRANSIENT NEONATAL DIABETES MELLITUS TYPE 1; UNIPARENTAL DISOMY;

EID: 84957569426     PISSN: 18687075     EISSN: 18687083     Source Type: Journal    
DOI: 10.1186/s13148-015-0143-8     Document Type: Review

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