BOARETTO, FRANCESCA

BOARETTO, FRANCESCA  

Dipartimento di Biologia - DiBio  

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Risultati 1 - 20 di 34 (tempo di esecuzione: 0.041 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. 2000 VAZZA, GIOVANNIBOARETTO, FRANCESCA + AMERICAN JOURNAL OF HUMAN GENETICS - -
Quantitative in situ detection of high-risk human papillomavirus in cytological specimens by SYBR Green I fluorescent labeling. 2002 BOARETTO, FRANCESCA + CLINICAL AND EXPERIMENTAL MEDICINE - -
Localization of a new highly repeated DNA sequence of Lemur cafta (Lemuridae, Strepsirhini). 2002 BOARETTO, FRANCESCA + GENOME - -
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. 2003 BOARETTO, FRANCESCA + HUMAN MOLECULAR GENETICS - -
Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation 2003 BOARETTO, FRANCESCASARTORI, ELENAMOSTACCIUOLO, MARIA LUISA + NEUROLOGY - -
A new mutation in two siblings with cystinosis presenting with Bartter syndrome. 2005 BOARETTO, FRANCESCA + PEDIATRIC NEPHROLOGY - -
Studio genetico pilota sulla popolazione di Chioggia: dati preliminari 2005 MOSTACCIUOLO, MARIA LUISAVETTORI, ANDREABOARETTO, FRANCESCABERTOLIN, CINZIAVAZZA, GIOVANNI + - - X Congresso Nazionale della Società Italiana di Psicopatologia
A novel missense mutation in the L1CAM gene in a boy with L1 disease 2006 BOARETTO, FRANCESCAVETTORI, ANDREAMOSTACCIUOLO, MARIA LUISA + NEUROLOGICAL SCIENCES - -
Genome scan for schizophrenia/bipolar disorder supports a susceptibility locus in 15q26 2006 VAZZA, GIOVANNIVETTORI, ANDREABOARETTO, FRANCESCAPERINI, GIULIAMOSTACCIUOLO, MARIA LUISA + AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS - -
Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26 2007 VAZZA, GIOVANNIBERTOLIN, CINZIAVETTORI, ANDREABOARETTO, FRANCESCARAMPINELLI, SABINAPERINI, GIULIAMOSTACCIUOLO, MARIA LUISA + MOLECULAR PSYCHIATRY - -
Evaluation of linkage signals in a subset of families with high recurrence of schizophrenia and bipolar disorder originating from Chioggia 2007 BERTOLIN, CINZIAVAZZA, GIOVANNIVETTORI, ANDREABOARETTO, FRANCESCARAMPINELLI, SABINAPERINI, GIULIAMOSTACCIUOLO, MARIA LUISA + - - 3rd International meeting on genetics of complex diseases and isolated populations
Novel MFN2 mutations and phenotypic variability in patients with Charcot-Marie-Tooth disease type 2A. 2007 BOARETTO, FRANCESCAVAZZA, GIOVANNIVETTORI, ANDREABERTOLIN, CINZIAMOSTACCIUOLO, MARIA LUISA + - - -
Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families. 2008 BOARETTO, FRANCESCA + JOURNAL OF NEUROLOGY - -
Individuation of new mutations in L1CAM gene in patients with L1 diseases. 2008 BOARETTO, FRANCESCABERTOLIN, CINZIAVAZZA, GIOVANNIVETTORI, ANDREAMOSTACCIUOLO, MARIA LUISA + - - -
c.1392+2T>C mutation in MFN2 gene affects splicing in Charcot-Marie-Tooth (CMT) 2A family. 2008 VETTORI, ANDREABOARETTO, FRANCESCAVAZZA, GIOVANNIBERGAMIN, GIORGIAMOSTACCIUOLO, MARIA LUISA + - - -
Genetics of adrenal tumors. 2009 OPOCHER, GIUSEPPEBOARETTO, FRANCESCAMANTERO, FRANCO + MINERVA ENDOCRINOLOGICA - -
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum 2009 MOSTACCIUOLO, MARIA LUISABOARETTO, FRANCESCA + JOURNAL OF MEDICAL GENETICS - -
The pheochromocytoma and paraganglioma syndrome: founder effects and the PGL 1 syndrome. 2009 Opocher GBOARETTO, FRANCESCA + ANNALES D'ENDOCRINOLOGIE - -
Individuazione e caratterizzazione di geni implicati nelle paraparesi spastiche ereditarie 2009 Boaretto, Francesca - - -
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 2010 BOARETTO, FRANCESCAOPOCHER, GIUSEPPE + NATURE GENETICS - -