- Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients
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...
- Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis
University of Ferrara, Medical genetics Unit Via Fossato di Mortara, Italy
Prenat Diagn 26:571-6. 2006
..The clinical features associated with cryptic trisomy 15 mosaicism and the problems concerning prenatal diagnosis and genetic counselling for carriers of translocations at high risk of 3:1 segregation are discussed...
- Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q)
Medical Genetics Unit, University of Perugia, Perugia, Italy
Genet Couns 21:91-7. 2010
..This is the first observation of familial transmission of a rec dup(18q), showing that this recombinant is associated with a mild phenotype with variable clinical picture...
- Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form?
Universita di Ferrara, Genetica Medica, 44100 Ferrara, Italy
Am J Med Genet A 140:2227-30. 2006
..In conclusion, we emphasize the importance of examining accurately the parents of a child who has classical MPS phenotype, even those with normal stature and an absence of facial anomalies...
- FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association?
University of Ferrara, Dept of Medical Genetics, 44100 Ferrara, Italy
Genet Couns 17:407-12. 2006
..CRD has not been previously described in TD or other conditions due to FGFR3 mutations, but occurs in Apert syndrome (due to FGFR2 mutations). The possible involvement of renal developmental defect in FGFR3 mutations is discussed...
- A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications
Center of Medical Genetics, Dept of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy
Genet Couns 19:413-8. 2008
..The identification of the molecular event responsible for PGL in our family made genetic counseling particularly useful for younger first degree relatives at risk to develop this late-onset disease...
- Prenatal diagnosis of a de novo satellited chromosome 18 (18ps) associated with 18p deletion
Genetica Medica, Universita di Ferrara, Ferrara, Italy
Genet Couns 18:309-15. 2007
..In case of prenatal detection of de novo terminal ectopic NORs an accurate cytogenetic and molecular analysis should be performed in order to rule out subtle unbalancements...
- An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology
University of Perugia, Department of Clinical and Experimental Medicine, Medical Genetics Unit, Perugia, Italy
Genet Couns 19:397-402. 2008
..Here we report on a novel P63 mutation (the first repeat variation described in the gene) in a patient showing overlapping phenotype of AEC and RH syndromes...
- Paracentric inversion of Yq and review of the literature
Department of Medical Genetics, University of Ferrara, Ferrara, Italy
Genet Couns 18:379-82. 2007
..Pregnancy was uneventful and an healthy child was born. We discuss the issue concerning genetic prenatal counselling of this rare condition and we report the clinical follow up of the child...
- Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?
Medical Genetics Unit, University of Perugia, Perugia, Italy Department of Experimental Medicine and Biochemical Sciences, University of Perugia, Perugia, Italy
Mol Syndromol 4:197-202. 2013
- Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review
Department of Clinical and Experimental Medicine, Medical Genetics Unit, Polo Unico Ospedaliero Santa Maria della Misericordia University Hospital, Perugia, Italy
Genet Couns 22:41-8. 2011
- A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline
Clinica Neurologica, Universita degli Studi di Perugia, Ospedale S Maria della Misericordia, Perugia, Italy
Eur J Neurol 18:1263-5. 2011
..SCA15 is a recently identified spinocerebellar ataxia with pure cerebellar involvement. Here, we report a novel SCA15 Italian family with atypical clinical features...
- Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype
Genetica Medica, Universita di Ferrara, Ferrara, Italy
Am J Med Genet A 146:110-5. 2008
..3q35.1) and short normal regions in between. The study of karyotype-phenotype correlations in this and other patients with deletions of 4q suggests 4q33q34.1 as a candidate region for 4q-syndrome and for craniofacial development...
- Familial multiple pterygium syndrome (MPS) is not associated with CHRNG gene mutation
Am J Med Genet A 143:1129. 2007
- Occurrence of the same chromosome abnormalities in Ph+ and Ph- cells in chronic myeloid leukaemia. Evidence of a secondary origin of the Ph chromosome?
Br J Haematol 135:265-6. 2006
- A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
Louise S Bicknell
Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand
J Med Genet 44:89-98. 2007
..To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome together with their affected relatives were evaluated for mutations in FLNB and their phenotypes studied...