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irene.bottillo@uniroma1.it
Irene Bottillo
Ricercatore
Struttura:
DIPARTIMENTO DI MEDICINA SPERIMENTALE
E-mail:
irene.bottillo@uniroma1.it
Pagina istituzionale corsi di laurea
Curriculum Sapienza
Pubblicazioni
Titolo
Pubblicato in
Anno
A novel germline mutation in CDK4 codon 24 associated to familial melanoma
CLINICAL GENETICS
2017
Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects
CELLULAR PHYSIOLOGY AND BIOCHEMISTRY
2017
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review
CARDIOVASCULAR PATHOLOGY
2016
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
2016
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy
DATA IN BRIEF
2016
Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16
BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY
2016
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria
SCIENTIFIC REPORTS
2016
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.
GENE
2015
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
EUROPEAN JOURNAL OF HUMAN GENETICS
2015
Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3
AMERICAN JOURNAL OF NEPHROLOGY
2015
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ERC
LS2_1
LS2_5
LS2_14
KET
Life-science technologies & biotechnologies
Keywords
medical genetics
clinical exome sequencing
exome sequencing
Exome
whole exome sequencing
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