Dr. Margarit obtained her PhD at our laboratory in 1998 with the Thesis entitled "Y chromosome defects in sexual differentiation and identification of potential regulatory elements of the expression of the SRY gene". Currently she is a Geneticist at the Genetics Service of the Hospital Clínic, Barcelona, Spain.
The publications related to her doctoral thesis are listed below:
Publications
6: Queralt R, Madrigal I, Vallecillos MA, Morales C, Ballescá JL, Oliva R, Soler A, Sánchez A, Margarit E.
Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion.
Am J Med Genet A. 2008 May 15;146A(10):1335-40
5: de Llanos M, Ballescà JL, Gázquez C, Margarit E, Oliva R.
High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates.
Hum Reprod. 2005 Jan;20(1):216-20.
4: Margarit E, Coll MD, Oliva R, Gómez D, Soler A, Ballesta F.
SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite.
Am J Med Genet. 2000 Jan 3;90(1):25-8
3: Oliva R, Margarit E, Ballescá JL, Carrió A, Sánchez A, Milà M, Jiménez L, Alvarez-Vijande JR, Ballesta F.
Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection.
Fertil Steril. 1998 Sep;70(3):506-10
2: Margarit E, Soler A, Carrió A, Oliva R, Costa D, Vendrell T, Rosell J, Ballesta F.
Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis.
J Med Genet. 1998 Sep;35(9):727-30
1: Margarit E, Guillén A, Rebordosa C, Vidal-Taboada J, Sánchez M, Ballesta F, Oliva R.
Identification of conserved potentially regulatory sequences of the SRY gene from 10 different species of mammals.
Biochem Biophys Res Commun. 1998 Apr 17;245(2):370-7