Concepedia

Irene Bottillo

IB

36

Publications

1.5K

Citations

22

H-Index

2004

Active since

Affiliations

Sapienza University of Rome(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

Carlo Forlanini Hospital

Bambino Gesù Children's Hospital

Qingdao University

Irene Bottillo is an author at Sapienza University of Rome specializing in medicine, pathology, and genetics.

ORCID

Top concepts

Publications per year

2004–2023

36

Publications

36

NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

Alessandro De Luca, Irene Bottillo, Anna Sárközy et al. · The American Journal of Human Genetics · 2005 · 151 citations · Full text

, , +9

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Valentina Pinna, Valentina Lanari, Paola Daniele et al. · European Journal of Human Genetics · 2014 · 134 citations · Full text

, , +9

Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome

Francesco Brancati, Paola Fortugno, Irene Bottillo et al. · The American Journal of Human Genetics · 2010 · 120 citations · Full text

, , +6

Germline and somatic <i>NF1</i> mutations in sporadic and NF1‐associated malignant peripheral nerve sheath tumours

Irene Bottillo, Terje Ahlquist, Helge R. Brekke et al. · The Journal of Pathology · 2008 · 120 citations

, , +15

Deletions of <i>NF1</i> gene and exons detected by multiplex ligation-dependent probe amplification

Alessandro De Luca, Irene Bottillo, Maria Cecilia D’Asdia et al. · Journal of Medical Genetics · 2007 · 76 citations · Full text

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