E. Scala

发表

Emergence of KRAS mutations and acquired resistance to anti-EGFR therapy in colorectal cancer

Enzo Medico, Roberta Schiavo, F. Nicolantonio, 2012, Nature.

Amplification of the MET receptor drives resistance to anti-EGFR therapies in colorectal cancer.

Andrea Bertotti, Simona Corso, Maria Apicella, 2013, Cancer discovery.

KRAS gene amplification in colorectal cancer and impact on response to EGFR‐targeted therapy

I. Nagtegaal, F. Nicolantonio, A. Bardelli, 2013, International journal of cancer.

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

I. Winship, A. Renieri, F. Mari, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.

A. Renieri, F. Mari, E. Scala, 2004, Kidney international.

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

N. Landsberger, V. Broccoli, A. Renieri, 2005, Human molecular genetics.

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

A. Renieri, D. Giachino, F. Mari, 2005, Journal of Medical Genetics.

Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology Group.

R. Coppo, G. Frascà, S. Feriozzi, 2005, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

MECP2 deletions and genotype–phenotype correlation in Rett syndrome

A. Battaglia, A. Renieri, F. Mari, 2007, American journal of medical genetics. Part A.

Molecular bases of the clinical variability in Rett syndrome

S. Giglio, A. Renieri, E. Scala, 2007 .

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)

G. Cevenini, A. Renieri, F. Mari, 2009, Brain and Development.

Radiofrequency Thermoablation On Ex Vivo Animal Tissues: Changes on Isolated Swine Thyroids

R. Garberoglio, M. Martano, E. Scala, 2021, Frontiers in Endocrinology.

Italian Rett database and biobank

A. Renieri, F. Mari, E. Scala, 2007, Human mutation.

Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

H. Bokhoven, A. Renieri, F. Mari, 2013, Clinical genetics.