11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver–Russell Syndrome

Human Mutation

Volumn 38, Issue 1, 2017, Pages 105-111

  Abi Habib, Walid ^a,b,c   Brioude, Frederic ^a,b,c   Azzi, Salah ^a,b,c,d   Salem, Jennifer ^e   Das Neves, Cristina ^c   Personnier, Claire ^f   Chantot Bastaraud, Sandra ^c,g   Keren, Boris ^h   Le Bouc, Yves ^a,b,c   Harbison, Madeleine D ⁱ   Netchine, Irene ^a,b,c  

^a CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d BABRAHAM INSTITUTE   (United Kingdom)

^e MAGIC Foundation   (United States)

^f CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^g Assistance publique Hôpitaux de Paris   (France)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

ⁱ MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

deletions; hypomethylation; IGF2 H19 imprinted domain; imprinting control region 1; Silver Russell syndrome

Indexed keywords

IMPRINTING CONTROL REGION 1; PROTEIN; SOMATOMEDIN B; UNCLASSIFIED DRUG; H19 LONG NON-CODING RNA; LONG UNTRANSLATED RNA;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DNA METHYLATION; FEMALE; GENE DELETION; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC COUNSELING; HUMAN; HUMAN CELL; MALE; METHYLATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; CHROMOSOME 11; FIBROBLAST; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; GENOME IMPRINTING; PEDIGREE;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; FEMALE; FIBROBLASTS; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOMIC IMPRINTING; HUMANS; INSULIN-LIKE GROWTH FACTOR II; MALE; PEDIGREE; RNA, LONG NONCODING; SEQUENCE DELETION; SILVER-RUSSELL SYNDROME;

EID: 84998644041     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23131     Document Type: Article

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