- Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variabilityEster 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...
- Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B geneE 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...
- SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphroditeE 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...
- Gene symbol: ATP7B. Disease: Wilson's diseaseE Margarit
Genetics, Hospital Clinic, Villarroel, Barcelona, Spain
Hum Genet 118:544-5. 2005
- Cytogenetic studies in fetal bloodD 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...
- Pseudodicentric 22;Y translocation transmitted through four generations of a large family without phenotypic repercussionC 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...
- Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosisA 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...
- Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray-based analysisI 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...
- Assaying the granulocyte-macrophage colony-stimulating factor (GM-CSF) as a mitogen of immature cells in fetal blood culturesD 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...
- Identification of conserved potentially regulatory sequences of the SRY gene from 10 different species of mammalsE Margarit
Hospital Clinic, Institut de Investigacions Biomèdiques August Pi i Sunyer IDIBAPS, Barcelona, Spain
Biochem Biophys Res Commun 245:370-7. 1998....