- 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...
- Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromasGiovanni Ponti
Department of Internal Medicine, Division of Dermatology, University of Modena and Reggio Emilia, Modena, Italy
Hered Cancer Clin Pract 9:6. 2011..abstract:..
- Ectodermal dysplasias: a new clinical-genetic classificationM Priolo
Operative Unit of Medical Genetics, Azienda Ospedaliera Bianchi Melacrino Morelli, Via Melacrino, 89100 Reggio Calabria, Italy
J Med Genet 38:579-85. 2001....
- Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanismsManuela Priolo
Operative Unit of Medical Genetics Bianchi Melacrino Morelli Hospital, Reggio Calabria, Italy
Am J Med Genet A 149:2003-13. 2009....
- Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGHManuela Priolo
Operative Unit of Medical Genetics, Hospital of Reggio Calabria Az Ospedaliera Bianchi Melacrino Morelli, V Petrara Reggio Calabria, 89100 Reggio Calabria, RC, Italy
Eur J Med Genet 50:139-43. 2007..High-resolution karyotype and microarray-CGH using an oligonucleotide array with 75Kb oligo's were normal, excluding Wolf-Hirschhorn syndrome. Long-term follow-up revealed psychiatric manifestations starting at young age...
- MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experimentManuela Priolo
Operative Unit of Medical Genetics, Hospital of Reggio Calabria Az Ospedaliera Bianchi Melacrino Morelli, V Petrara Reggio Calabria, Reggio Calabria, Italy
Eur J Hum Genet 16:565-71. 2008..5 critical region within one single experiment and represents an easy, low cost and reliable system for the molecular diagnostics of BWS and SRS...
- Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestationP De Biasio
Department of Obstetrics and Gynaecology, G Gaslini Institute, University of Genova, Genova, Italy
Prenat Diagn 20:835-7. 2000..Implications for perinatal management are discussed...
- Expanding the phenotype of 22q11 deletion syndrome: the MURCS associationVera Uliana
Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy
Clin Dysmorphol 17:13-7. 2008..We discuss whether this is a casual association or whether it is an additional syndrome owing to the well known phenotype extensive variability of the 22q11 deletion syndrome...
- Clinical and molecular characterization of Italian patients affected by Cohen syndromeEleni Katzaki
Medical Genetics, Department of Molecular Biology, University of Siena, V Le Bracci 2, 53100 Siena, Italy
J Hum Genet 52:1011-7. 2007..Given the geographical conformation of this region, which is neither geographically or culturally isolated, a recent origin of the mutation could be hypothesized...
- Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11Christian R Marshall
Program in Genetics and Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada
Am J Hum Genet 83:106-11. 2008..MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse...
- Pulmonary agenesis/hypoplasia, microphthalmia, and diaphragmatic defects: report of an additional caseManuela Priolo
Clin Dysmorphol 13:45-6. 2004..Diaphragmatic defects with associated pulmonary hypoplasia/agenesis and anophthalmia/microphthalmia have been reported as part of a complex syndromic phenotype. We report a case with the combination of these malformations...
- How wide is the ocular spectrum of Delleman syndrome?Maria Teresa Divizia
Clin Dysmorphol 13:33-4. 2004..We describe a patient with cerebral and cutaneous features typical of oculocerebrocutaneous syndrome. The ocular anomalies observed have not been previously reported in patients affected with this syndrome...