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Items: 23

1.

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P, Calzavara S, Magistroni R, den Dunnen JT, Rigo F, Stenirri S, Testa F, Messa P, Cerutti R, Scolari F, Izzi C, Edefonti A, Negrisolo S, Benetti E, Alibrandi MT, Manunta P, Boletta A, Ferrari M.

Sci Rep. 2016 Aug 8;6:30850. doi: 10.1038/srep30850.

2.

HIF1A and MIF as potential predictive mRNA biomarkers of pre-eclampsia: a longitudinal prospective study in high risk population.

Galbiati S, Inversetti A, Causarano V, Stenirri S, Soriani N, Ambrosi A, Valsecchi L, Candiani M, Cremonesi L, Ferrari M, Smid M.

Clin Chem Lab Med. 2015 Aug;53(9):1339-47. doi: 10.1515/cclm-2014-0745.

PMID:
25460285
3.

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.

Galbiati S, Stenirri S, Sbaiz L, Barberis M, Cremonesi L, Restagno G, Ferrari M.

Clin Chem Lab Med. 2014 Jul;52(7):e129-30. doi: 10.1515/cclm-2013-1116. No abstract available.

PMID:
24706433
4.

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: first case report.

Galbiati S, Stenirri S, Sbaiz L, Barberis M, Cremonesi L, Restagno G, Ferrari M.

Clin Chem Lab Med. 2014 Apr;52(4):505-9. doi: 10.1515/cclm-2013-0757.

PMID:
24166674
5.

Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations.

Stenirri S, Santambrogio P, Setaccioli M, Erba BG, Pia Manitto M, Rovida E, Ferrari M, Levi S, Cremonesi L.

Clin Chem Lab Med. 2012 Jan 9;50(6):1021-9. doi: 10.1515/cclm-2011-0854.

PMID:
22706241
6.

Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy.

Cascavilla ML, Querques G, Stenirri S, Battaglia Parodi M, Querques L, Bandello F.

Ophthalmic Res. 2012;48(3):146-50. doi: 10.1159/000338750. Epub 2012 May 14.

PMID:
22584882
7.

CACNA1A gene non-synonymous single nucleotide polymorphisms and common migraine in Italy: a case-control association study with a micro-array technology.

Gerola S, Battistini S, Stenirri S, Nicolodi M, Arnetoli G, Canova S, Binelli G, Bernardi A, Balan S, Ferrari M, Carrera P.

Clin Chem Lab Med. 2009;47(6):783-5. doi: 10.1515/CCLM.2009.161. No abstract available.

PMID:
19527141
8.

Dual-color microchip electrophoresis with single-photon avalanche diodes: application to mutation detection.

Stenirri S, Cretich M, Rech I, Restelli A, Ghioni M, Cova S, Ferrari M, Cremonesi L, Chiari M.

Electrophoresis. 2008 Dec;29(24):4972-5. doi: 10.1002/elps.200800323.

PMID:
19130576
9.

Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer.

Bordoni R, Bonnal R, Rizzi E, Carrera P, Benedetti S, Cremonesi L, Stenirri S, Colombo A, Montrasio C, Bonalumi S, Albertini A, Bernardi LR, Ferrari M, De Bellis G.

BMC Genomics. 2008 Oct 8;9:464. doi: 10.1186/1471-2164-9-464.

10.

Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations?

Stenirri S, Alaimo G, Manitto MP, Brancato R, Ferrari M, Cremonesi L.

Clin Chem Lab Med. 2008;46(9):1250-5. doi: 10.1515/CCLM.2008.248.

PMID:
18652558
11.

2. Post-Natal Molecular Diagnosis of Inherited Diseases.

Ferrari M, Cremonesi L, Stenirri S.

EJIFCC. 2008 Apr 3;19(1):7-12. eCollection 2008 Apr. No abstract available.

12.

Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations.

Stenirri S, Battistella S, Soriani N, Bernal S, Baiget M, Ferrari M, Cremonesi L.

Eur J Ophthalmol. 2007 Sep-Oct;17(5):749-54.

PMID:
17932850
13.

Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.

Stenirri S, Restagno G, Ferrero GB, Alaimo G, Sbaiz L, Mari C, Genitori L, Maurizio F, Cremonesi L.

Clin Chem. 2007 Oct;53(10):1767-74. Epub 2007 Aug 10.

14.

De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy.

Stenirri S, Battistella S, Fermo I, Manitto MP, Martina E, Brancato R, Ferrari M, Cremonesi L.

Clin Chem Lab Med. 2006;44(5):533-7.

PMID:
16681420
15.

Single-nucleotide polymorphism and mutation identification by the nanogen microelectronic chip technology.

Ferrari M, Cremonesi L, Bonini P, Foglieni B, Stenirri S.

Methods Mol Med. 2005;114:93-106.

PMID:
16156099
16.

Molecular diagnostics by microelectronic microchips.

Ferrari M, Cremonesi L, Bonini P, Stenirri S, Foglieni B.

Expert Rev Mol Diagn. 2005 Mar;5(2):183-92. Review.

PMID:
15833048
17.

Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.

Stenirri S, Fermo I, Battistella S, Galbiati S, Soriani N, Paroni R, Manitto MP, Martina E, Brancato R, Allikmets R, Ferrari M, Cremonesi L.

Clin Chem. 2004 Aug;50(8):1336-43. Epub 2004 Jun 10.

18.

Denaturing HPLC analysis of DNA deletions and insertions.

Cremonesi L, Stenirri S, Fermo I, Paroni R, Ferrari M, Cazzola M, Arosio P.

Hum Mutat. 2003 Jul;22(1):98-102.

PMID:
12815600
19.

Molecular diagnostics by microelectronic microchips.

Ferrari M, Stenirri S, Bonini P, Cremonesi L.

Clin Chem Lab Med. 2003 Apr;41(4):462-7. Review.

PMID:
12747587
20.

Familial hemiplegic migraine: a ion channel disorder.

Carrera P, Stenirri S, Ferrari M, Battistini S.

Brain Res Bull. 2001 Oct-Nov 1;56(3-4):239-41. Review.

PMID:
11719257
21.

Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics.

Kraus RL, Sinnegger MJ, Koschak A, Glossmann H, Stenirri S, Carrera P, Striessnig J.

J Biol Chem. 2000 Mar 31;275(13):9239-43.

22.

A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia.

Battistini S, Stenirri S, Piatti M, Gelfi C, Righetti PG, Rocchi R, Giannini F, Battistini N, Guazzi GC, Ferrari M, Carrera P.

Neurology. 1999 Jul 13;53(1):38-43.

PMID:
10408534
23.

Genetic heterogeneity in Italian families with familial hemiplegic migraine.

Carrera P, Piatti M, Stenirri S, Grimaldi LM, Marchioni E, Curcio M, Righetti PG, Ferrari M, Gelfi C.

Neurology. 1999 Jul 13;53(1):26-33.

PMID:
10408532

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