VOLPI, LUDOVICA

VOLPI, LUDOVICA  

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations 2016 E.A. ColomboL. VolpiG. NegriC. Gervasini + Article (author) -
VIABLE PHENOTYPE ASSOCIATED WITH NOVEL MUTATIONS OF INTEGRIN 3, ENCODING A LAMININS RECEPTOR INVOLVED IN STRUCTURAL AND FUNCTIONAL ORGANIZATION OF LUNG, KIDNEY AND SKIN EPITHELIA 2014 E. ColomboG. NegriL. VolpiC. GervasiniL. Larizza + Book Part (author) -
Clinical utility gene card for: poikiloderma with neutropenia 2013 L. LarizzaG. NegriE.A. ColomboL. Volpi + Article (author) -
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations 2012 E.A. ColomboG. NegriC.C.G. GervasiniL. VolpiL. Larizza + Article (author) -
NUOVE MUTAZIONI DEL GENE C16orf57 IN PAZIENTI AFFETTI DA POICHILODERMA CON NEUTROPENIA: ANALISI BIOINFORMATICA DELLA PROTEINA E PREDIZIONE DELL’EFFETTO DI TUTTE LE MUTAZIONI NOTE 2012 G. NegriE. ColomboC. GervasiniL. VolpiL. Larizza + Book Part (author) -
Poikiloderma with neutropenia: Delineation of novel mutations and geographic clusters 2010 Colombo EAVolpi LLarizza L + Conference Object -
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene 2010 L. VolpiE.A. ColomboF. MacciardiL. Larizza + Article (author) -
Rothmund-Thomson syndrome 2010 L. LarizzaL. Volpi + Article (author) -
Clericuzio-Type Poikiloderma With Neutropenia Syndrome in Three Sibs With Mutations in the C16orf57 Gene : Delineation of the Phenotype 2010 G. RoversiE.A. ColomboL. VolpiL. Larizza + Article (author) -
Letter in response to “RNA processing effects of the Helicase gene RECQL4 in a compound Heterozygous Rothmund-Thomson patient 2004 L. Volpi Article (author) -
Mutation analysis of the BRCA1 gene in Malaysian breast cancer patients 2002 L. Volpi + Article (author) -
An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome 2002 A. BeghiniL. Volpi + Article (author) -
A new BRCA1 germline mutation (E879X) in a Malaysian breast cancer patient of Chinese descent 2000 L. Volpi + Article (author) -
A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree 1999 L. Volpi + Article (author) -
Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome 1998 M. MiozzoP. RivaA. M. Fuhrman ContiL. VolpiL. Larizza + Article (author) -
Localization of fos, jun, kit and SCF mRNA in human placenta throughout gestation using in situ RT-PCR 1997 L. DonedaG. BulfamanteM. G. GrimoldiL. VolpiL. Larizza Article (author) -
An improved procedure for in situ RTPCR 1996 L. VolpiL. DonedaM. G. GrimoldiL. Larizza + Article (author) -
Isochromosome 15q of maternal origin in a Prader-Willi patient with pituitary adenoma 1996 P. RivaL. VolpiL. Larizza + Article (author) -
Microsatellite instability in IVS3 of murine c-fes gene: tumor-associated rearrangement and mammalian divergence 1996 L. VolpiA. BeghiniL. Larizza + Article (author) -
Differential induction of the two early genes c-jun and c-fos in weakly and strongly metastatic murine lymphoma cell lines 1994 L. VolpiL. Larizza + Article (author) -