Research Topics
Species | Margherita Cirillo SilengoSummaryAffiliation: University of Turin Country: Italy Publications
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Detail Information
Publications
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale
Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy
Orphanet J Rare Dis 6:38. 2011..Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause...- Hair anomalies as a sign of mitochondrial diseaseMargherita Silengo
I Divisione di Clinica Pediatrica, Universita di Torino, Piazza Polonia 94, 10126 Torino, Italy
Eur J Pediatr 162:459-61. 2003..CONCLUSION: Microscopic hair examination is an easy, first level diagnostic tool that can lead to a suspected mitochondrial defect in the early stages of the disease, before symptoms of progressive multi-organ involvement develop... - Eyebrow anomalies as a diagnostic sign of genomic disordersM Silengo
Department of Pediatrics, University of Torino, Torino, Italy
Clin Genet 77:28-31. 2010..Here, we report our experience concerning the relevance of abnormal eyebrow pattern as a diagnostic indicator of specific genomic disorders... - Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disabilityElga F Belligni
Dipartimento di Scienze Pediatriche, University of Torino, Torino, Italy
Ital J Pediatr 35:9. 2009..abstract:.. - 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 diagnosisGiovanni Battista Ferrero
Department of Pediatrics, University of Torino, Piazza Polonia, 94 10126 Torino, Italy
Eur J Pediatr 169:223-8. 2010..The Van der Woude syndrome is a mendelian CL/P, accounting for about 2% of all cases and caused by mutations in the interferon regulatory factor 6 (IRF6) gene, located on 1q32.2 chromosome... - Clinical and molecular characterization of 40 patients with Noonan syndromeGiovanni Battista Ferrero
Department of Pediatrics, University of Torino, Torino, Italy
Eur J Med Genet 51:566-72. 2008.... - Hair changes in congenital disorders of glycosylation (CDG type 1)Margherita Silengo
Clinical Genetics, Department of Paediatrics, University of Turin, Piazza Polonia 94, 10126 Turin, Italy
Eur J Pediatr 162:114-5. 2003 - Schinzel-Giedion syndrome with sacrococcygeal teratomaAlessandro Sandri
Divisione di Pediatria Oncologica, Universita degli Studi di Torino, Piazza Polonia 94, 10100 Torino, Italy
J Pediatr Hematol Oncol 25:558-61. 2003..According to this occurrence of uncommon tumors, risk of malignancy could be a component of Schinzel-Giedion syndrome... - Remittent hyperammonemia in congenital portosystemic shuntGiovanni Battista Ferrero
Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126 Torino, Italy
Eur J Pediatr 169:369-72. 2010.... - Four new cases of PHACES syndrome: variable phenotypic expression and endocrine featuresAlessandro Mussa
Department of Paediatrics, Division of Paediatric Endocrinology, University of Torino, Italy
Acta Paediatr 97:1729-33. 2008..We review and discuss the phenotypes and the endocrine aspects of PHACES syndrome, hypothesizing that endocrine anomalies, although rare, could be considered as feature of the disease... - Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patientsGiovanni Battista Ferrero
Department of Pediatrics, University of Torino, Piazza Polonia, 94, 10126 Torino, Italy
Eur J Med Genet 50:327-37. 2007.... - A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 geneA G Delmonaco
Department of Pediatric Sciences, University of Turin, Turin, Italy
Minerva Pediatr 63:125-9. 2011..Extensive metabolic assays were within normal range. Sequence analysis for MLC1 gene revealed a compound heterozygosity for two mutations in MLC1 gene, inherited from healthy non consanguineous parents... - Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?Giovanni Battista Ferrero
Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126 Turin, Italy
Am J Med Genet 113:291-4. 2002..A similar phenotype has been previously reported in a sporadic male patient [Gabrielli et al., 1994: Am J Med Genet 53:290-293], suggesting a new variant form of oral-facial-digital syndrome... - Myhre's syndrome in a girl with normal intelligenceImmacolata Rulli
Am J Med Genet A 134:100-2. 2005 - Truncus arteriosus and isochromosome 8qMargherita Silengo
Am J Med Genet A 133:223-4. 2005 - Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlationMitsuhiro Kato
Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
Hum Mutat 23:147-59. 2004.... - Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variabilityMonica Marini
Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genova, Italy
Am J Med Genet A 117:112-5. 2003..The identification of this mutation allowed us to give a prenatal diagnosis in this family and confirms a wide intrafamilial variability in the phenotypic spectrum... - Congenital hypothyroidism, cerebellar atrophy, and the incomplete phenotypic expression of PHACES syndromeAlessandro Mussa
Endocr J 55:231; author reply 233. 2008