MIGONE, Nicola

MIGONE, Nicola  

SCIENZE MEDICHE  

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[Prenatal diagnosis. Indications and risks of early amniocentesis by placental puncture and fetoscopy] 1980 Massobrio M; Coppo F; Carozzi F; De Marchi M; Migone N; Ottone PL; Ansaldi E; Carbonara A
A "Position Effect” Involved In The Pathogenesis Of Autosomal Dominant Leukodystrophy Linked To Chromosome 5q21-q23 In An Italian Family 2010 A.Brussino; E. Di Gregorio; G.Vaula; D.Lacerenza; M.Seri; N.Migone; A.Brusco.
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations 2010 Brussino A; Vaula G; Cagnoli C; Panza E; Seri M; Di Gregorio E; Scappaticci S; Camanini S; Daniele D; Bradac GB; Pinessi L; Cavalieri S; Grosso E; Migone N; Brusco A
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients 2011 Mancini C; Roncaglia P; Lo Buono N; Brussino A; Cagnoli C; Maltecca F; Krmac H; Limongi T; Stevanin G; Forlani S; Casari G; Funaro A; Durr A; Migone N; Gustincich S; Brusco A
A large TSC2 and PKD1 gene deletion is associated with renal and extra-renal signs of the autosomal dominant polycystic kidney disease. 1997 LONGA L; SCOLARI F; BRUSCO A; CARBONARA C; POLIDORO S; VALZORIO B; RIEGLER P; MIGONE N; MAIORCA R
A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA. 2002 Saviozzi, Silvia; Saluto, Alessandro; Taylor, Amr; Last, Jil; Trebini, F; Paradiso, Mc; Grosso, Enrico; Funaro, Ada; Ponzio, Giorgio; Migone, Nicola; Brusco, Alfredo
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy 2009 Brussino A; Vaula G; Cagnoli C; Mauro A; Pradotto L; Daniele D; Di Gregorio E; Barberis M; Arduino C; Squadrone S; Abete MC; Migone N; Calabrese O; Brusco A
A novel SH3-containing human gene family preferentially expressed in the central nervous system 1997 Giachino C; Lantelme E; Lanzetti L; Saccone S; Bella Valle G; Migone N
A previously undiagnosed case of GERSTMANN-STRÄUSSLER-SCHEINKER disease revealed by PRNP gene analysis in patients with adult-onset ataxia 2008 Cagnoli C; Brussino A; Sbaiz L; Di Gregorio E; Atzori C; Caroppo P; Orsi L; Migone N; Buffa C; Imperiale D; Brusco A
A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease 1997 LONGA L; BRUSCO A; CARBONARA C; POLIDORO S; SCOLARI F; VALZORIO B; RIEGLER P; TARDANICO R; MIGONE N
An alternative approach to the assessment of gamma delta T-cell clonality in celiac disease intestinal lesions through cDNA heteroduplex analysis of T-cell receptor VJ junctions 1994 GIACHINO C; ROCCI MP; DE LIBERO G; ODERDA G; ANSALDI N; MIGONE N
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene 2005 Saluto, Alessandro; Brussino, Alessandro; Tassone, Flora; Arduino, Carlo; Cagnoli, Claudia; Pappi, Patrizia; Hagerman, P; Migone, Nicola; Brusco, Alfredo
Analisi array-CGH e riarrangiamenti genomici a mosaico 2010 Grosso E; Di Gregorio E; D'Alessandro G; Talarico F; Bibbò P; Zonta A; Migone N; Brusco A.
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. 2002 BRUSCO A; CAGNOLI C; FRANCO A; DRAGONE E; NARDACCHIONE A; GROSSO E; MORTARA P; MUTANI R; MIGONE N; ORSI L
Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. 1996 CARBONARA C; LONGA L; GROSSO E; MAZZUCCO G; BORRONE C; GARRÈ ML; BRISIGOTTI M; FILIPPI G; SCABAR A; GIANNOTTI A; FALZONI P; MONGA G; GARINI G; GABRIELLI M; RIEGLER P; DANESINO C; RUGGIERI M; MAGRO G; MIGONE N.
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions 2006 Cavalieri, Simona; Funaro, Ada; Porcedda, Paola; Turinetto, Valentina; Migone, Nicola; Gatti, Richard; Brusco, Alfredo
Bf polymorphism and ankylosing spondylitis 1978 MIGONE N; MALAVASI F; BOSCHIS D; MODENA V
Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes 2013 Alessandro Calcia; Giorgia Gai; Eleonora Di Gregorio; Flavia Talarico; Valeria G. Naretto; Nicola Migone; Ernesto Pepe; Enrico Grosso; Alfredo Brusco
Blood Cell Mitochondrial DNA Content and Premature Ovarian Aging. 2012 Bonomi M;Somigliana E;Cacciatore C;Busnelli M;Rossetti R;Bonetti S;Paffoni A;Mari D;Ragni G;Persani L;the Italian Network for the study of Ovarian Dysfunctions; Einauidi S; Migone N
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment 2006 JANSSENS K; VANHOENACKER F; BONDUELLE M; VERBRUGGEN L; VAN MALDERGEM L; RALSTON S; GUAÑABENS N; MIGONE N; WIENTROUB S; DIVIZIA MT; BERGMANN C; BENNETT C; SIMSEK S; MELANÇON S; CUNDY T; VAN HUL W