E Margarit

Summary

Country: Spain

Publications

  1. doi request reprint Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability
    Ester Margarit
    Biochemistry and Molecular Genetics, Hospital Clinic, Barcelona, Spain
    Am J Med Genet A 158:611-6. 2012
  2. ncbi request reprint Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene
    E Margarit
    Department of Genetics, Hospital Clinic, Barcelona, Spain
    Clin Genet 68:61-8. 2005
  3. ncbi request reprint SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite
    E Margarit
    Servei de Genètica Hospital Clínic de Barcelona, Barcelona, Spain
    Am J Med Genet 90:25-8. 2000
  4. ncbi request reprint Gene symbol: ATP7B. Disease: Wilson's disease
    E Margarit
    Genetics, Hospital Clinic, Villarroel, Barcelona, Spain
    Hum Genet 118:544-5. 2005
  5. ncbi request reprint Cytogenetic studies in fetal blood
    D Costa
    Prenatal Diagnosis Unit, Genetic Service, Hospital Clinic, University of Barcelona, Spain
    Fetal Diagn Ther 13:169-75. 1998
  6. ncbi request reprint Pseudodicentric 22;Y translocation transmitted through four generations of a large family without phenotypic repercussion
    C Morales
    Fundació Clínic per a la Recerca Biomèdica, Barcelona, Spain
    Cytogenet Genome Res 116:319-23. 2007
  7. ncbi request reprint Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis
    A Soler
    Servei de Genètica, Hospital Clinic, Barcelona, Spain
    Am J Med Genet 90:291-3. 2000
  8. doi request reprint Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray-based analysis
    I Mademont-Soler
    Servei de Bioquímica i Genètica Molecular, Hospital Clinic, Barcelona, Spain
    Ultrasound Obstet Gynecol 41:375-82. 2013
  9. ncbi request reprint Assaying the granulocyte-macrophage colony-stimulating factor (GM-CSF) as a mitogen of immature cells in fetal blood cultures
    D Costa
    Prenatal Diagnosis Unit, Hospital Clinic, University of Barcelona, Catalonia, Spain
    Prenat Diagn 19:17-20. 1999
  10. ncbi request reprint Identification of conserved potentially regulatory sequences of the SRY gene from 10 different species of mammals
    E Margarit
    Hospital Clinic, Institut de Investigacions Biomèdiques August Pi i Sunyer IDIBAPS, Barcelona, Spain
    Biochem Biophys Res Commun 245:370-7. 1998

Collaborators

Detail Information

Publications10

  1. doi request reprint Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability
    Ester Margarit
    Biochemistry and Molecular Genetics, Hospital Clinic, Barcelona, Spain
    Am J Med Genet A 158:611-6. 2012
    ..Furthermore, this study adds valuable information for phenotype-genotype correlation in 18q- syndrome and might facilitate future search for candidate genes involved in each phenotypic trait...
  2. ncbi request reprint Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene
    E Margarit
    Department of Genetics, Hospital Clinic, Barcelona, Spain
    Clin Genet 68:61-8. 2005
    ..Molecular diagnosis of WD is very useful in clinical practice to confirm or support clinical suspicion...
  3. ncbi request reprint SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite
    E Margarit
    Servei de Genètica Hospital Clínic de Barcelona, Barcelona, Spain
    Am J Med Genet 90:25-8. 2000
    ..The possible origin of the Yp/Xq translocation, during paternal meiosis or in somatic paternal cells, is discussed...
  4. ncbi request reprint Gene symbol: ATP7B. Disease: Wilson's disease
    E Margarit
    Genetics, Hospital Clinic, Villarroel, Barcelona, Spain
    Hum Genet 118:544-5. 2005
  5. ncbi request reprint Cytogenetic studies in fetal blood
    D Costa
    Prenatal Diagnosis Unit, Genetic Service, Hospital Clinic, University of Barcelona, Spain
    Fetal Diagn Ther 13:169-75. 1998
    ..In conclusion, cytogenetic analysis of fetal blood samples appears to be effective, rapid and reliable to establish the fetal karyotype in selected cases...
  6. ncbi request reprint Pseudodicentric 22;Y translocation transmitted through four generations of a large family without phenotypic repercussion
    C Morales
    Fundació Clínic per a la Recerca Biomèdica, Barcelona, Spain
    Cytogenet Genome Res 116:319-23. 2007
    ..2;qter).ish psu dic(22;Y) (SRY+,DYZ3+,D14/D22Z1+). In conclusion, the presence of the dicentric chromosome in the male members of the family reported does not seem to interfere with the correct progression of spermatogenesis...
  7. ncbi request reprint Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis
    A Soler
    Servei de Genètica, Hospital Clinic, Barcelona, Spain
    Am J Med Genet 90:291-3. 2000
    ..This observation supports the lack of imprinting effects on chromosome 13 and trisomy rescue as a mechanism leading to uniparental disomy in cases involving isochromosomes...
  8. doi request reprint Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray-based analysis
    I Mademont-Soler
    Servei de Bioquímica i Genètica Molecular, Hospital Clinic, Barcelona, Spain
    Ultrasound Obstet Gynecol 41:375-82. 2013
    ..2 deletion syndrome among fetuses with abnormal cardiac ultrasound findings, and to evaluate the clinical value of chromosomal microarray-based analysis (CMA) in the study of such pregnancies...
  9. ncbi request reprint Assaying the granulocyte-macrophage colony-stimulating factor (GM-CSF) as a mitogen of immature cells in fetal blood cultures
    D Costa
    Prenatal Diagnosis Unit, Hospital Clinic, University of Barcelona, Catalonia, Spain
    Prenat Diagn 19:17-20. 1999
    ..In conclusion, our experience suggests that immature cells in fetal blood may be successfully cultured for diagnostic purposes...
  10. ncbi request reprint Identification of conserved potentially regulatory sequences of the SRY gene from 10 different species of mammals
    E Margarit
    Hospital Clinic, Institut de Investigacions Biomèdiques August Pi i Sunyer IDIBAPS, Barcelona, Spain
    Biochem Biophys Res Commun 245:370-7. 1998
    ....