L Cremonesi

Summary

Affiliation: San Raffaele Scientific Institute
Country: Italy

Publications

  1. ncbi Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer
    Roberta Bordoni
    Consiglio Nazionale delle Ricerche, Istituto di Tecnologie Biomediche, Via F, Cervi 93, I 20090 Segrate, Italy
    BMC Genomics 9:464. 2008
  2. ncbi Feasibility study for a microchip-based approach for noninvasive prenatal diagnosis of genetic diseases
    L Cremonesi
    Unit of Genomics for Diagnosis of Human Pathologies, Milan, Italy
    Ann N Y Acad Sci 1022:105-12. 2004
  3. ncbi Optimized detection of DNA point mutations by double gradient denaturing gradient gel electrophoresis
    L 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
  4. ncbi Quantitative analysis of fetal DNA in maternal plasma in pathological conditions associated with placental abnormalities
    M Smid
    Department of Obstetrics and Gynecology, University Hospital San Raffaele, Milan, Italy
    Ann N Y Acad Sci 945:132-7. 2001
  5. ncbi Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance
    P Carrera
    Department of Laboratory Medicine, I R C C S H S Raffaele, Milan, Italy
    Hum Mol Genet 2:1437-41. 1993
  6. ncbi Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations
    V Brancolini
    IRCCS, H S Raffaele, DIBIT, Unità di Genetica, Milan, Italy
    Hum Genet 96:312-8. 1995
  7. ncbi Genetic and clinical heterogeneity of ferroportin disease
    L Cremonesi
    Unit of Genomics for the Diagnosis of Human Pathologies, IRCCS H San Raffaele, Milan, Italy
    Br J Haematol 131:663-70. 2005
  8. ncbi Ferroportin-1 in the recurrence of hepatic iron overload after liver transplantation
    L Valenti
    Department of Internal Medicine, University of Milan, Milan, Italy
    Dig Liver Dis 41:e17-20. 2009
  9. ncbi 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 C14G
    L 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
  10. ncbi Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations
    S Stenirri
    Genomic Unit for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milano, Italy
    Eur J Ophthalmol 17:749-54. 2007

Collaborators

Detail Information

Publications11

  1. ncbi Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer
    Roberta 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...
  2. ncbi Feasibility study for a microchip-based approach for noninvasive prenatal diagnosis of genetic diseases
    L 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...
  3. ncbi Optimized detection of DNA point mutations by double gradient denaturing gradient gel electrophoresis
    L 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
    ....
  4. ncbi Quantitative analysis of fetal DNA in maternal plasma in pathological conditions associated with placental abnormalities
    M 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...
  5. ncbi Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance
    P 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)..
  6. ncbi Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations
    V 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...
  7. ncbi Genetic and clinical heterogeneity of ferroportin disease
    L 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...
  8. ncbi Ferroportin-1 in the recurrence of hepatic iron overload after liver transplantation
    L 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...
  9. ncbi 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 C14G
    L 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...
  10. ncbi Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations
    S 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...
  11. ncbi Prevention of cystic fibrosis in Italian families by DNA studies
    M 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...