Research Topics
Genomes and GenesSpecies | L GaravelliSummaryAffiliation: Reggio Emilia Country: Italy Publications
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Detail Information
Publications
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasiaLivia Garavelli
Clinical Genetics Unit Obstetric and Pediatric Department, Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy
Am J Med Genet A 158:2245-9. 2012....- Massive hemobilia and papillomatosis of the gallbladder in metachromatic leukodystrophy: a life-threatening conditionL Garavelli
Clinical Genetic Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
Neuropediatrics 40:284-6. 2009..It is thus imperative that this life-threatening condition should be well known... - Mandibuloacral dysplasia type A in childhoodL Garavelli
Clinical Genetic Unit, Obstetric and Pediatric Department, S Maria Nuova Hospital, Reggio Emilia, Italy
Am J Med Genet A 149:2258-64. 2009.... - Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literatureL Garavelli
Clinical Genetics Unit, Obstetric and Pediatric Department, S Maria Nuova Hospital, Reggio Emilia, Italy
Am J Med Genet A 149:417-26. 2009..The prevalence of MWS is likely to be underestimated. Knowledge of the phenotypic spectrum of MWS and of its changing phenotype with age can improve the detection rate of this condition... 
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new caseL Garavelli
Department of Pediatrics and Genetic Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
Neuropediatrics 38:200-3. 2007..The authors argued that these findings identified a new and distinct malformation syndrome, which they named MPPH. We report on a new case of MPPH, the first to be described after the original series (Mirzaa et al., 2004)...
Mowat-Wilson syndromeLivia Garavelli
Clinical Genetics Unit, Obstetric and Pediatric Department, S, Maria Nuova Hospital, Reggio Emilia, Italy
Orphanet J Rare Dis 2:42. 2007..Psychomotor development is delayed in all patients, therefore rehabilitation (physical therapy, psychomotor and speech therapy) should be started as soon as possible...- Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and reviewL Garavelli
Department of Pediatrics and Genetic Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
Genet Couns 17:449-55. 2006..To date, 33 cases from 19 families have been reported. We present an Italian case of anophthalmia with limb anomalies and a renal malformation, which has never been described in the literature... - Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1Livia Garavelli
Department of Pediatrics, S Maria Nuova Hospital, Reggio Emilia, Italy
Acta Biomed 76:45-8. 2005..This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384). This result expands the spectrum of GNAS1 mutations associated with this disorder... - MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literatureL Garavelli
Department of Paediatrics and Genetics Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
Genet Couns 16:117-28. 2005..Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications... - Marden-Walker syndrome: case report, nosologic discussion and aspects of counselingL Garavelli
Department of Pediatrics and Clinical Genetics, S Maria Nuova Hospital, Reggio Emilia, Italy
Genet Couns 11:111-8. 2000..The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling... - Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and reviewL Garavelli
Department of Pediatrics and Genetic Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
Horm Res 63:187-92. 2005..MWS should be considered by endocrinologists in patients with hypospadias associated with developmental delays/mental retardation, in particular in the presence of a distinct facial phenotype... - Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehogLivia Garavelli
Department of Pediatrics and Clinical Genetics, S Maria Nuova Hospital, 80 42100 Reggio Emilia, Italy
Am J Med Genet A 127:93-5. 2004..SMMCI has also been found as an isolated finding or together with other anomalies such as microcephaly, short stature, endocrine pathology, and choanal atresia. We describe a patient with SMMCI and a novel SHH mutation: Val332Ala... - Dermatologic features in Pallister-Killian syndrome and their importance to the diagnosisE Guareschi
Department of Dermatology, S. Maria Nuova Hospital, Reggio Emilia, Italy
Pediatr Dermatol 24:426-8. 2007 - Holt-Oram syndrome associated with anomalies of the feetL Garavelli
Clinical Genetics Unit, Obstetric and Pediatric Department, S Maria Nuova Hospital, Reggio Emilia, Italy
Am J Med Genet A 146:1185-9. 2008..We discuss genotype-phenotype correlations, the presence of foot anomalies in one affected individual, and the role of atypical features in HOS differential diagnosis... - A short history of the initial discovery of the SHOX geneS Bernasconi
Department of Pediatrics, University of Parma, Parma, Italy
J Endocrinol Invest 33:3-6. 2010..In the same year, both Ellison and Rao demonstrated that SHOX is most clearly expressed in bone marrow fibroblasts, thus suggesting that SHOX has a particular importance in bone growth and maturation... - A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndromeMarcella Zollino
Istituto di Genetica Medica, Facolta di Medicina A Gemelli, UCSC, Roma, Italy
Eur J Hum Genet 12:797-804. 2004..It can be inferred that a double, cryptic chromosome imbalance is an important factor for phenotypic variability in WHS. It acts either by masking the actual deletion size or by doubling a quantitative change of the genome... - Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patientsAlfredo Orrico
Molecular Medicine, Azienda Ospedaliera Universitaria Senese, Siena, Italy
Eur J Hum Genet 12:16-23. 2004..The current study provides further evidence that mutations of FGD1 may cause AAS and expands the spectrum of disease-causing mutations. The importance of considering the neuropsychological phenotype of AAS patients is discussed... - Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier
Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
Eur J Med Genet 48:97-111. 2005..The lack of missense mutations in MWS and MWS-like patients suggests there may be other, as yet unrecognized phenotypes, associated with missense mutations of this transcription factor... - Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndromeFiorella Gurrieri
Istituto di Genetica Medica, Universita Cattolica del S Cuore, Facolta di Medicina, Largo Francesco Vito 1, 00168 Rome, Italy
Am J Med Genet A 126:204-7. 2004..This new observation supports the existence of a new syndrome and expands the phenotypic spectrum of the condition... - Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasiaAlessandra Tessa
Molecular Medicine and Genetics, IRCCS Bambino Gesù, Rome, Italy
Hum Mutat 22:104. 2003..In two cases, however, a limb-girdle myopathy affecting the shoulder muscles was also identified. Our data add new variants to the repertoire of RUNX2 mutations in CCD...