A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia von BATTISTINI, S, STENIRRI, S, CARRERA, P, PIATTI, M, GELFI, C, RIGHETTI, P. G, ROCCHI, R, GIANNINI, F, BATTISTINI, N, GUAZZI, G. C, FERRARI, M

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Genetic heterogeneity in Italian families with familial hemiplegic migraine von CARRERA, P, PIATTI, M, STENIRRI, S, GRIMALDI, L. M. E, MARCHIONI, E, CURCIO, M, RIGHETTI, P. G, FERRARI, M, GELFI, C

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Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations von Stenirri, S, Battistella, S, Soriani, N, Bernal, S, Baiget, M, Ferrari, M, Cremonesi, L

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Non-invasive prenatal diagnosis of genetic diseases by advanced technologies von Galbiati, S., Monguzzi, A., Soriani, N., Stenirri, S., Lalatta, F., Seia, M., Restagno, G., Damin, F., Chiari, M., Ferrari, M.

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Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics von Kraus, R L, Sinnegger, M J, Koschak, A, Glossmann, H, Stenirri, S, Carrera, P, Striessnig, J

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Three New Familial Hemiplegic Migraine Mutants Affect P/Q-type Ca2+ Channel Kinetics von Kraus, Richard L., Sinnegger, Martina J., Koschak, Alexandra, Glossmann, Hartmut, Stenirri, Stefania, Carrera, Paola, Striessnig, Jörg

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Denaturing HPLC Profiling of the ABCA4 Gene for Reliable Detection of Allelic Variations von Stenirri, Stefania, Fermo, Isabella, Battistella, Stefania, Galbiati, Silvia, Soriani, Nadia, Paroni, Rita, Manitto, Maria Pia, Martina, Elisabetta, Brancato, Rosario, Allikmets, Rando, Ferrari, Maurizio, Cremonesi, Laura

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Familial hemiplegic migraine: A ion channel disorder von CARRERA, Paola, STENIRRI, Stefania, FERRARI, Maurizio, BATTISTINI, Stefania

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Molecular Diagnostics by Microelectronic Microchips von Ferrari, Maurizio, Stenirri, Stefania, Bonini, Pierangelo, Cremonesi, Laura

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Denaturing HPLC analysis of DNA deletions and insertions von Cremonesi, Laura, Stenirri, Stefania, Fermo, Isabella, Paroni, Rita, Ferrari, Maurizio, Cazzola, Mario, Arosio, Paolo

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Molecular diagnostics by microelectronic microchips von Ferrari, Maurizio, Cremonesi, Laura, Bonini, Pierangelo, Stenirri, Stefania, Foglieni, Barbara

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Three New Familial Hemiplegic Migraine Mutants Affect P/Q-type Ca super(2+) Channel Kinetics von Kraus, R L, Sinnegger, MJ, Koschak, A, Glossmann, H, Stenirri, S, Carrera, P, Striessnig, J

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HIF1A and MIF as potential predictive mRNA biomarkers of pre-eclampsia: a longitudinal prospective study in high risk population von Galbiati, Silvia, Inversetti, Annalisa, Causarano, Vincenza, Stenirri, Stefania, Soriani, Nadia, Ambrosi, Alessandro, Valsecchi, Luca, Candiani, Massimo, Cremonesi, Laura, Ferrari, Maurizio, Smid, Maddalena

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Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) von Carrera, Paola, Calzavara, Silvia, Magistroni, Riccardo, den Dunnen, Johan T., Rigo, Francesca, Stenirri, Stefania, Testa, Francesca, Messa, Piergiorgio, Cerutti, Roberta, Scolari, Francesco, Izzi, Claudia, Edefonti, Alberto, Negrisolo, Susanna, Benetti, Elisa, Alibrandi, Maria Teresa Sciarrone, Manunta, Paolo, Boletta, Alessandra, Ferrari, Maurizio

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An Open-Source Tool for Managing Time-Evolving Variant Annotation von Catallo, Ilio, Ciceri, Eleonora, Stenirri, Stefania, Merella, Stefania, Sanna, Alberto, Ferrari, Maurizio, Carrera, Paola, Vicini, Sauro

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Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations von Stenirri, Stefania, Santambrogio, Paolo, Setaccioli, Marco, Erba, Benedetta Gaia, Pia Manitto, Maria, Rovida, Ermanna, Ferrari, Maurizio, Levi, Sonia, Cremonesi, Laura

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Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis:... von Galbiati, Silvia, Stenirri, Stefania, Sbaiz, Luca, Barberis, Marco, Cremonesi, Laura, Restagno, Gabriella, Ferrari, Maurizio

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Further considerations concerning non-invasive prenatal diagnosis of craniosynostosis based on the identification of an 18 bp deletion in the TWIST1 gene by COLD-PCR von Galbiati, Silvia, Stenirri, Stefania, Sbaiz, Luca, Barberis, Marco, Cremonesi, Laura, Restagno, Gabriella, Ferrari, Maurizio

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Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer von Bordoni, Roberta, Bonnal, Raoul, Rizzi, Ermanno, Carrera, Paola, Benedetti, Sara, Cremonesi, Laura, Stenirri, Stefania, Colombo, Alessio, Montrasio, Cristina, Bonalumi, Sara, Albertini, Alberto, Bernardi, Luigi Rossi, Ferrari, Maurizio, De Bellis, Gianluca

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Unilateral Vitelliform Phenotype in Autosomal Recessive Bestrophinopathy von Cascavilla, Maria Lucia, Querques, Giuseppe, Stenirri, Stefania, Battaglia Parodi, Maurizio, Querques, Lea, Bandello, Francesco

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