Concepedia

Author

Stefania Stenirri

Vita-Salute San Raffaele University

Also Known As

S. Stenirri, Stefania Stenirri

31

Publications

783

Citations

14

H-Index

7

Concepts

All Affiliations

Vita-Salute San Raffaele UniversityIRCCS Ospedale San RaffaeleIstituti di Ricovero e Cura a Carattere ScientificoIstituto di Ricovero e Cura a Carattere Scientifico San Raffaele
SS

About

Stefania Stenirri is an author at Vita-Salute San Raffaele University specializing in genomics, functional genomics, and bioinformatics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

1

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18

2

Functional Genomics

1

1

18

3

Genetics

1

1

18

4

Genomics

1

1

18

5

Systems Biology

1

1

18

Stefania Stenirri

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15

Publications

706

Citations

13

H-Index

YearCitations

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

Stefania Battistini, Stefania Stenirri, Marco Piatti,

Neurology

1999

195

Three New Familial Hemiplegic Migraine Mutants Affect P/Q-type Ca2+ Channel Kinetics

Richard L. Kraus, Martina J. Sinnegger, Alexandra Koschak,

Journal of Biological Chemistry

2000

148

Genetic heterogeneity in Italian families with familial hemiplegic migraine

Paola Carrera, Marco Piatti, Stefania Stenirri,

Neurology

1999

124

Denaturing HPLC Profiling of the ABCA4 Gene for Reliable Detection of Allelic Variations

Stefania Stenirri, Isabella Fermo, Stefania Battistella,

Clinical Chemistry

2004

38

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

Paola Carrera, Silvia Calzavara, Riccardo Magistroni,

Scientific Reports

2016

34

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

Silvia Galbiati, Annalisa Inversetti, Vincenza Causarano,

Clinical Chemistry and Laboratory Medicine (CCLM)

2014

25

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

Stefania Stenirri, Paolo Santambrogio, Marco Setaccioli,

Clinical Chemistry and Laboratory Medicine (CCLM)

2012

20

Integrated Strategy for Fast and Automated Molecular Characterization of Genes Involved in Craniosynostosis

Stefania Stenirri, Gabriella Restagno, Giovanni Battista Ferrero,

Clinical Chemistry

2007

19

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

Roberta Bordoni, Raoul J.P. Bonnal, Ermanno Rizzi,

BMC Genomics

2008

18

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

Stefania Stenirri, Georgia Alaimo, Maria Pia Manitto,

Clinical Chemistry and Laboratory Medicine (CCLM)

2008

16

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