Ester Margarit

Publicaciones destacadas

• Comparative cytogenetic analysis in two tissues with different lineage in Turner's syndrome patients: correlation with phenotype

  Autores:

  Ros, Cristina; Serra, Anna; Balasch, Juan; Margarit, Ester; Castelo-Branco, Camil;

  Referencia: GYNECOLOGICAL ENDOCRINOLOGY.

• A 92,XXXY Miscarriage Consecutive to a Digynic Triploid Pregnancy

  Autores:

  Soler, Anna; Badenas, Celia; Margarit, Ester; Madrigal, Irene; Munoz, Miriam;

  Borobio, Virginia; Sanchez, Aurora.

  Referencia: CYTOGENETIC AND GENOME RESEARCH.

• Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac based analysis

  Autores:

  Mademont-Soler, I; Morales, C; Soler, A; Martinez-Crespo, J M; Shen, Y;

  Margarit, E; Clusellas, N; Obon, M; Wu, B L; Sanchez, A.

  Referencia: ULTRASOUND IN OBSTETRICS AND GYNECOLOGY.

• MLPA: A prenatal diagnostic tool for the study of congenital heart defects?

  Autores:

  Mademont-Soler, Irene; Morales, Carme; Soler, Anna; Clusellas, Nuria; Margarit, Ester;

  Martinez-Barrios, Estefania; Maria Martinez, Jose; Sanchez, Aurora.

  Referencia: GENE.

• Familial 4.8?MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability

  Autores:

  Margarit, Ester; Morales, Carme; Rodriguez-Revenga, Laia; Monne, Raquel; Badenas, Celia;

  Soler, Anna; Clusellas, Nuria; Mademont, Irene; Sanchez, Aurora.

  Referencia: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A.

• Subtelomeric MLPA: is it really useful in prenatal diagnosis?

  Autores:

  Mademont-Soler, Irene; Morales, Carme; Bruguera, Jordi; Madrigal, Irene; Clusellas, Nuria;

  Margarit, Ester; Sanchez, Aurora; Soler, Anna.

  Referencia: PRENATAL DIAGNOSIS.

• Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation

  Autores:

  Mademont-Soler, Irene; Morales, Carme; Madrigal, Irene; Margarit, Ester; Bruguera, Jordi;

  Clusellas, Nuria; Martinez, Jose M; Borrell, Antoni; Sanchez, Aurora; Soler, Anna.

  Referencia: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A.

• First case of protein S deficiency due to a translocation t(3;21)(q11.2;q22)

  Autores:

  Hurtado, Begona; Nadal, Marga; Margarit, Ester; Sanchez, Aurora; Abasolo, Nerea;

  Garcia, Nadia; Domenech, Pere; Sala, Nuria;.

  Referencia: THROMBOSIS AND HAEMOSTASIS.

• A retrospective and theoretical evaluation of rapid methods for detecting chromosome abnormalities and their implications on genetic counseling based on a series of 3868 CVS diagnoses

  Autores:

  Soler, Anna; Morales, Carme; Badenas, Celia; Rodriguez-Revenga, Laia; Carrio, Ana;

  (...)

  Costa, Dolors; Borrell, Antoni; Gonce, Anna; Mila, Montserrat; Sanchez, Aurora.

  Ver listado completo de autores

  Referencia: FETAL DIAGNOSIS AND THERAPY.

• Cytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalities

  Autores:

  Morales, Carme; Sanchez, Aurora; Bruguera, Jordi; Margarit, Ester; Borrell, Antoni;

  Borobio, Virginia; Soler, Anna.

  Referencia: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A.