Affiliation: San Raffaele Scientific Institute
- Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel PyrosequencerRoberta Bordoni
Consiglio Nazionale delle Ricerche, Istituto di Tecnologie Biomediche, Via F, Cervi 93, I 20090 Segrate, Italy
BMC Genomics 9:464. 2008..The sequence variants included SNPs and small deletions and insertions (up to 44 bp), in homozygous or heterozygous state...
- Feasibility study for a microchip-based approach for noninvasive prenatal diagnosis of genetic diseasesL Cremonesi
Unit of Genomics for Diagnosis of Human Pathologies, Milan, Italy
Ann N Y Acad Sci 1022:105-12. 2004..The addition of peptide nucleic acids (PNAs) to either the PCR reaction or the chip hybridization mixture allowed approximately 50% inhibition of wild-type allele signals...
- Optimized detection of DNA point mutations by double gradient denaturing gradient gel electrophoresisL Cremonesi
I R C C S, H San Raffaele, Unità di Genetica e Diagnostica Molecolare, Milan, Italy
Clin Chem Lab Med 36:959-61. 1998....
- Quantitative analysis of fetal DNA in maternal plasma in pathological conditions associated with placental abnormalitiesM Smid
Department of Obstetrics and Gynecology, University Hospital San Raffaele, Milan, Italy
Ann N Y Acad Sci 945:132-7. 2001..These data suggest that increased fetal DNA concentrations might represent a valuable marker of placental abnormalities and suggest that this rise may precede clinical manifestation of preeclampsia by only a few weeks...
- Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistanceP Carrera
Department of Laboratory Medicine, I R C C S H S Raffaele, Milan, Italy
Hum Mol Genet 2:1437-41. 1993..In addition, during the course of screening the patient's DNA with perpendicular DGGE, we identified two previously unreported silent substitutions in exon 9.(ABSTRACT TRUNCATED AT 250 WORDS)..
- Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutationsV Brancolini
IRCCS, H S Raffaele, DIBIT, Unità di Genetica, Milan, Italy
Hum Genet 96:312-8. 1995..This may indicate that these chromosomes bear different mutations, rarely occurring among cystic fibrosis patients, further underlying the molecular heterogeneity of the genetic defects present in patients having pancreatic sufficiency...
- Genetic and clinical heterogeneity of ferroportin diseaseL Cremonesi
Unit of Genomics for the Diagnosis of Human Pathologies, IRCCS H San Raffaele, Milan, Italy
Br J Haematol 131:663-70. 2005..This condition should be considered not only in families with autosomal iron overload or hyperferritinaemia, but also in cases of unexplained hyperferritinaemia...
- Ferroportin-1 in the recurrence of hepatic iron overload after liver transplantationL Valenti
Department of Internal Medicine, University of Milan, Milan, Italy
Dig Liver Dis 41:e17-20. 2009..In conclusion, this case report documents the recurrence of progressive liver siderosis, which recalls Ferroportin disease, associated with decreased Ferroportin-1 expression in host monocytes repopulating the donor liver...
- Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: identification of the new mutation C14GL Cremonesi
Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) H. San Raffaele, Unit of Genetics and Molecular Diagnostics, Via Olgettina 58, 20132 Milan, Italy
Clin Chem 47:491-7. 2001..The first population study indicated that the mutations are rare and may involve regions of the IRE structure not yet characterized...
- Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutationsS Stenirri
Genomic Unit for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milano, Italy
Eur J Ophthalmol 17:749-54. 2007..In this study the gene was screened for mutations in a cohort of 25 patients of Spanish origin, to further assess ABCA4 involvement in retinal dystrophies...
- Prevention of cystic fibrosis in Italian families by DNA studiesM Ferrari
Istituto Scientifico H S Raffaele, Laboratorio Centrale, Milano, Italy
Acta Univ Carol Med (Praha) 36:105-7. 1990..19. These data show that these probes are highly informative and can be used for feasibility studies and prenatal diagnosis of CF in the Italian population...