Mahadevan S

Title : Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5\/CGI-58 gene - Srinivasaraghavan_2014_Pediatr.Dermatol_31_612

Author(s) : Srinivasaraghavan R , Krishnamurthy S , Chandar R , Cassandrini D , Mahadevan S , Bruno C , Santorelli FM

Ref : Pediatr Dermatol , 31 :612 , 2014

Abstract :

PubMedSearch : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612

PubMedID: 23756328

Gene_locus related to this paper: human-ABHD5

Title : Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? - Szafranski_2010_Hum.Mutat_31_840

Author(s) : Szafranski P , Schaaf CP , Person RE , Gibson IB , Xia Z , Mahadevan S , Wiszniewska J , Bacino CA , Lalani S , Potocki L , Kang SH , Patel A , Cheung SW , Probst FJ , Graham BH , Shinawi M , Beaudet AL , Stankiewicz P

Ref : Hum Mutat , 31 :840 , 2010

Abstract :

PubMedSearch : Szafranski_2010_Hum.Mutat_31_840

PubMedID: 20506139

Mahadevan S

References (2)

1. Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5\/CGI-58 gene - Srinivasaraghavan_2014_Pediatr.Dermatol_31_612

2. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? - Szafranski_2010_Hum.Mutat_31_840