Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

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

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

Affiliation

Parry DA; Section of Genetics, Leeds Institute of Molecular Medicine, St. James's University Hospital, Wellcome Trust Brenner Building, UK.

Am J Hum Genet ; 89(3): 451-8, 2011 Sep 09.

Article in En | MEDLINE | ID: mdl-21885028

Subject(s)

Adaptor Proteins, Signal Transducing/metabolism; Genomic Imprinting/physiology; Hydatidiform Mole/genetics; Oocytes/physiology; Proteins/genetics; Proteins/metabolism; Adaptor Proteins, Signal Transducing/genetics; Base Sequence; Cell Line; Female; Genes, Recessive/genetics; Genomic Imprinting/genetics; Humans; Immunohistochemistry; Molecular Sequence Data; Mutation/genetics; Oocytes/metabolism; Pedigree; Pregnancy; Sequence Alignment; Sequence Analysis, DNA

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Oocytes / Proteins / Hydatidiform Mole / Genomic Imprinting / Adaptor Proteins, Signal Transducing Limits: Female / Humans / Pregnancy Language: En Journal: Am J Hum Genet Year: 2011 Type: Article Affiliation country: United kingdom

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