Mutations causing familial biparental hydatidiform mole implicate C6orf221 as a possible regulator of genomic imprinting in the human oocyte

American Journal of Human Genetics

Volumn 89, Issue 3, 2011, Pages 451-458

  Parry, David A ^a   Logan, Clare V ^a   Hayward, Bruce E ^a   Shires, Michael ^a   Landolsi, Hanne ^b   Diggle, Christine ^a   Carr, Ian ^a   Rittore, Cécile ^c   Touitou, Isabelle ^c   Philibert, Laurent ^c   Fisher, Rosemary A ^d   Fallahian, Masoumeh ^e   Huntriss, John D ^f   Picton, Helen M ^f   Malik, Saghira ^a   Taylor, Graham R ^a   Johnson, Colin A ^a   Bonthron, David T ^a   Sheridan, Eamonn G ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b SAHLOUL UNIVERSITY HOSPITAL   (Tunisia)

^c INSERM   (France)

^d IMPERIAL COLLEGE LONDON   (United Kingdom)

^e SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^f UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EMBRYO; FAMILIAL BIPARENTAL HYDATIDIFORM MOLE; FAMILIAL DISEASE; GENE EXPRESSION; GENE MUTATION; GENETIC HETEROGENEITY; GENOME IMPRINTING; HOMOZYGOSITY; HUMAN; HYDATIDIFORM MOLE; NUCLEOTIDE METABOLISM; OOCYTE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; BASE SEQUENCE; CELL LINE; FEMALE; GENES, RECESSIVE; GENOMIC IMPRINTING; HUMANS; HYDATIDIFORM MOLE; IMMUNOHISTOCHEMISTRY; MOLECULAR SEQUENCE DATA; MUTATION; OOCYTES; PEDIGREE; PREGNANCY; PROTEINS; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 80052717970     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.08.002     Document Type: Article

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