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...
- Familial hemiplegic migraine: a ion channel disorderP Carrera
I R C C S H San Raffaele, Laboratorio Biologia Molecolare Clinica, Milano, Italy
Brain Res Bull 56:239-41. 2001..Different classes of mutations within the CACNA1A gene have been associated with different diseases, thus identifying a new member among 'channelopathies'. Variable clinical expression and genetic heterogeneity of FHM will be discussed...
- Genetic heterogeneity in Italian families with familial hemiplegic migraineP Carrera
IRCCS H San Raffaele, Laboratorio Biologia Molecolare Clinica, Italy
Neurology 53:26-33. 1999..To verify linkage to chromosome 19p13, to detect mutations in the CACNA1A gene, and to correlate genetic results to their clinical phenotypes in Italian families with familial hemiplegic migraine (FHM)...
- Study on mutations and antiretroviral therapy (SMART): preliminary resultsN Gianotti
Division of Infectious Diseases, San Raffaele Scientific Institute, Milan, Italy
Antivir Ther 4:65-9. 1999....
- Phenotypic clustering of lamin A/C mutations in neuromuscular patientsS Benedetti
Laboratory of Clinical Molecular Biology DIBIT 2, Diagnostics and Research San Raffaele, Milan, Italy
Neurology 69:1285-92. 2007..Mutations in the LMNA gene, encoding human lamin A/C, have been associated with an increasing number of disorders often involving skeletal and cardiac muscle, but no clear genotype/phenotype correlation could be established to date...
- Efficacy of low-dose intermittent subcutaneous interleukin (IL)--2 in antiviral drug--experienced human immunodeficiency virus--infected persons with detectable virus load: a controlled study of 3 il-2 regimens with antiviral drug therapyG Tambussi
Clinic of Infectious Diseases, San Raffaele Scientific Institute, 20137, Milan, Italy
J Infect Dis 183:1476-84. 2001..Low doses of intermittent sc IL-2 induced a stable increase of peripheral CD4 cells that was indistinguishable from those associated with higher, less well-tolerated doses of IL-2...
- Effect of genotypic resistance on the virological response to highly active antiretroviral therapy in cerebrospinal fluidP Cinque
Division of Infectious Diseases, San Raffaele Hospital, 20127 Milan, Italy
AIDS Res Hum Retroviruses 17:377-83. 2001..Most of these cases were not associated with the presence of resistant HIV strains in the CSF...
- Detection of rifampin resistance in Mycobacterium tuberculosis by double gradient-denaturing gradient gel electrophoresisP Scarpellini
Infectious Diseases Division, San Raffaele Scientific Institute, University of Milan, Milan, Italy
Antimicrob Agents Chemother 43:2550-4. 1999..The results of this method were fully concordant with those of DNA sequencing and susceptibility testing analyses. DG-DGGE is a valid alternative to the other methods of detecting mutations for predicting RMP resistance...
- 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....
- Prevalence of mutation associated to resistance with nucleoside analogues in a cohort of naïve HIV-1 positive subjects during the period 1984-1997G Tambussi
Division of Infectious Diseases, San Raffaele Scientific Institute, Milano, Italy
J Biol Regul Homeost Agents 12:32-4. 1998..However, it is important to underline the trend and, in our opinion, further studies to better define the relevance of such phenomenon in the clinical practice must be performed...
- Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathyS Benedetti
Laboratory of Clinical Molecular Biology, Diagnostica e Ricerca San Raffaele, Milano, Italy
J Neurol Neurosurg Psychiatry 76:1019-21. 2005..Our observations further support the marked intrafamilial and interfamilial phenotypic heterogeneity associated with lamin A/C defects...
- A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysisA M Barbieri
IRCCS H S Raffaele, Department of Laboratory Medicine, Milano, Italy
Hum Genet 96:343-4. 1995..A novel nonsense mutation in exon 17 of the dystrophin gene, consisting of a C to T transition, is described...
- Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASILA Malandrini
Istituto Scienze Neurologiche, Universita di Siena, Italy
Neurology 59:617-20. 2002..In the current cases, the relation between molecular genetic lesion and muscle fiber abnormalities remains to be determined, but the Notch3 gene may influence mitochondrial metabolism...
- A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databasesR G H Cotton
Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, Fitzroy, Victoria, Australia
Hum Mutat 28:931-2. 2007..2007]. We call for comment and collaboration in this article...
- Recommendations for locus-specific databases and their curationR G H Cotton
Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, Australia
Hum Mutat 29:2-5. 2008..This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome...
- Voltage-operated calcium channel heterogeneity in pancreatic beta cells: physiopathological implicationsE Sher
Eli Lilly and Co, Lilly Research Centre, Erl Wood Manor, Windlesham, Surrey GU20 6PH, United Kingdom
J Bioenerg Biomembr 35:687-96. 2003..Subtype-selective calcium channel drugs have the potential for being beneficial in beta cell pathological states...
- Detection of resistance to isoniazid by denaturing gradient-gel electrophoresis DNA sequencing in Mycobacterium tuberculosis clinical isolatesP Scarpellini
Infectious Diseases Division, San Raffaele Scientific Institute, Milan, Italy
New Microbiol 26:345-51. 2003..Rapid genotypic assessment of INH resistance by means of the methodology described here could reasonably be used in clinical mycobacteriology laboratories...
- Very high prevalence of right-to-left shunt on transcranial Doppler in an Italian family with cerebral autosomal dominant angiopathy with subcortical infarcts and leukoencephalopathyS Angeli
Department of Neurological Sciences and Vision, University of Genova, Italy
Eur Neurol 46:198-201. 2001..006). CONCLUSIONS: We suggest an association between CADASIL and RLS, possibly due to the abnormal development of the endocardial cushion influenced by Notch 3 mutation. Our hypothesis needs to be tested in larger samples...
- 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)..
- A single mRNA, transcribed from an alternative, erythroid-specific, promoter, codes for two non-myristylated forms of NADH-cytochrome b5 reductaseG Pietrini
C N R Center for Cytopharmacology, University of Milan, Italy
J Cell Biol 117:975-86. 1992..Thus, differently localized products, with respect both to tissues and to subcellular compartments, are generated from the same gene by a combination of transcriptional and translational mechanisms...