CIRILLO, Margherita

CIRILLO, Margherita  

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Titolo Data di pubblicazione Autore(i) File
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. 2013 Ciavarella M; Coco M; Baorda F; Stanziale P; Chetta M; Bisceglia L; Palumbo P; Bengala M; Raiteri P; Silengo M; Caldarini C; Facchini R; Lala R; Cavaliere ML; De Brasi D; Pasini B; Zelante L; Guarnieri V; D'Agruma L.
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient. 2013 Meazza C; Lausch E; Pagani S; Bozzola E; Calcaterra V; Superti-Furga A; Silengo M; Bozzola M.
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism 2012 Belligni, ELGA FABIA; DI GREGORIO, Eleonora; Biamino, Elisa; Calcia, Alessandro; Molinatto, Cristina; Talarico, Flavia; Ferrero, Giovanni Battista; Brusco, Alfredo; Cirillo, Margherita
A 46,XY infant with uterus, dysgenetic gonads and multiple anomalies 1974 Silengo M; Kaufman RL; Kissane J.
A child with macrocephaly: case report of a patient with megalencephalicleukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene. 2011 Delmonaco AG; Gaidolfi E; Scheper GC; Girardo E; Molinatto C; Belligni E; Ferrero GB; Cirillo Silengo M; Van Der Knaap M.
A familial case of DD/ID variable psychiatric phenotype and optic atrophy due to a novel 1,5 Mb deletion on 2q29 2012 Belligni E; Biamino E; Molinatto C; Calcia A; Ferrero GB; Silengo M
A heritable cause of cleft lip and palate-Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. 2010 Ferrero GB; Baldassarre G; Panza E; Valenzise M; Pippucci T; Mussa A; Pepe E; Seri M; Silengo MC
A linkage study of Jeune syndrome : esclusion of candidate loci and homozygosity mapping 2002 Bacchelli C; Morgan NV; Silengo M; Wilson LC; Scrambler LA; Maher ER; Goodman FR
A locus for Jeune asphyxiating thoracic dystrophy, JATD, maps to chromosome 15q13 2003 Morgan NV; Bacchelli C; Gissen P; Silengo M; Casteels I; Hall C; Scrambler PJ; Goodman FR; Johnson CA
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. 2003 Morgan NV; Bacchelli C; Gissen P; Morton J; Ferrero GB; Silengo M; Labrune P; Casteels I; Hall C; Cox P; Kelly DA; Trembath RC; Scambler PJ; Maher ER; Goodman FR; Johnson CA.
a microduplication of the centromeric domain of the 11p15.5 impirnted gene cluster is associated with loss of DNA methylation and familial BWS. 2010 Chiesa N; De Crescenzo N; Mussa A; Baldassarre G; Perone L; Carella M; Cirillo Silengo M; Riccio A; Ferrero GB
A new syndrome with cerebro-oculo-skeletal-renal involvement 1990 Silengo MC; Lerone M; Pelizza A; Gatti R; Barabino A; Romeo G
A new syndrome with ocular, skeletal and renal involvement 1987 Cirillo Silengo M;Lopez Bell G; Biagioli M; Guala A; Porcellini G; Franceschini P
A novel H208D TP63 mutation in a familial case of ectrodactytly-ectodermal dysplasia-cleft lip/palate without clefting 2009 Sorasio L; Biamino E; Garelli E; Ferrero GB; Silengo MC.
A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome. 2002 Silengo M; Barberis L; Ferrero GB; Sorasio L; Valenzise M.
A rare craniosynostosis associated with an atypical 22q11 microdeletion 2011 Molinatto C; Belligni E; Biamino E; Gaglini P; Calcia A; Di Gregorio E; Di Rocco C; Silengo M; Brusco A; Ferrero GB
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome 2012 Caputo V; Cianetti L; Niceta M; Carta C; Ciolfi A; Bocchinfuso G; Carrani E; Dentici ML; Biamino E; Belligni E; Garavelli L; Boccone L; Melis D; Andria G; Gelb BD; Stella L; Silengo M; Dallapiccola B; Tartaglia M.
A restricted spectrum of NRAS mutations causes Noonan syndrome 2010 Cirstea IC; Kutsche K; Dvorsky R; Gremer L; Carta C; Horn D; Roberts AE; Lepri F; Merbitz-Zahradnik T; König R; Kratz CP; Pantaleoni F; Dentici ML; Joshi VA; Kucherlapati RS; Mazzanti L; Mundlos S; Patton MA; Silengo MC; Rossi C; Zampino G; Digilio C; Stuppia L; Seemanova E; Pennacchio LA; Gelb BD; Dallapiccola B; Wittinghofer A; Ahmadian MR; Tartaglia M; Zenker M.
A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait. 1992 Guala A; Germinetti V; Sebastiani F; Silengo M
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome 2006 SORASIO L; FERRERO G; GARELLI E; BRUNELLO G; MARTANO C; CARANDO A; BELLIGNI E; DIANZANI I; CIRILLO SILENGO M