A Orrico

Summary

Country: Italy

Publications

  1. ncbi Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene
    A Orrico
    Medicina Molecolare, Azienda Ospedaliera Universitaria Senese, Siena, Italy
    Am J Med Genet A 152:313-8. 2010
  2. ncbi Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication
    Alfredo Orrico
    Molecular Medicine, Azienda Ospedaliera Universitaria Senese, Siena, Italy
    Am J Med Genet A 149:1033-5. 2009
  3. ncbi Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q)
    Alfredo Orrico
    UOC Molecular Medicine, Department of Oncology, Azienda Ospedaliera Universitaria Senese, Viale Bracci 2, 53100 Siena, Italy
    Am J Med Genet A 135:99-102. 2005
  4. ncbi Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients
    Alfredo Orrico
    Molecular Medicine, Azienda Ospedaliera Universitaria Senese, Siena, Italy
    Eur J Hum Genet 12:16-23. 2004
  5. ncbi Novel PTEN mutations in neurodevelopmental disorders and macrocephaly
    A Orrico
    Molecular Medicine, Azienda Ospedaliera Universitaria Senese, Sienna, Italy
    Clin Genet 75:195-8. 2009
  6. ncbi A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome)
    A Orrico
    U O Genetica Medica, Policlinico Le Scotte, Siena, Italy
    FEBS Lett 478:216-20. 2000
  7. ncbi SCN1A mutation associated with atypical Panayiotopoulos syndrome
    S Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, S. Maria alle Scotte Hospital, Siena, Italy
    Neurology 69:609-11. 2007
  8. ncbi Possible case of Pitt-Hopkins syndrome in sibs
    A Orrico
    Medical Genetics, Department of Molecular Biology, Policlinico Le Scotte, 53100 Siena, Italy
    Am J Med Genet 103:157-9. 2001
  9. ncbi Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient
    A Orrico
    Medical Genetics, Azienda Ospedaliera Senese, Siena, Italy
    J Child Neurol 16:150-3. 2001
  10. ncbi MECP2 mutation in male patients with non-specific X-linked mental retardation
    A Orrico
    Medical Genetics, Policlinico Le Scotte, Sienna, Italy
    FEBS Lett 481:285-8. 2000

Collaborators

Detail Information

Publications20

  1. ncbi Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene
    A Orrico
    Medicina Molecolare, Azienda Ospedaliera Universitaria Senese, Siena, Italy
    Am J Med Genet A 152:313-8. 2010
    ..In addition to the well-established phenotypic features of AAS, other clinical features are also reported and discussed...
  2. ncbi Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication
    Alfredo Orrico
    Molecular Medicine, Azienda Ospedaliera Universitaria Senese, Siena, Italy
    Am J Med Genet A 149:1033-5. 2009
    ..We report on a 33-year-old female with a microduplication of 15q11-q13 detected by array-CGH analysis, with particular reference to the epilepsy phenotype, characterized as a late-onset Lennox-Gastaut syndrome...
  3. ncbi Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q)
    Alfredo Orrico
    UOC Molecular Medicine, Department of Oncology, Azienda Ospedaliera Universitaria Senese, Viale Bracci 2, 53100 Siena, Italy
    Am J Med Genet A 135:99-102. 2005
    ..We suggest that FGD1 analysis may be adequate in ADHD patients who exhibit dysmorphic features suggestive of AAS, also in the absence of the full phenotypical spectrum...
  4. ncbi Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients
    Alfredo 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...
  5. ncbi Novel PTEN mutations in neurodevelopmental disorders and macrocephaly
    A Orrico
    Molecular Medicine, Azienda Ospedaliera Universitaria Senese, Sienna, Italy
    Clin Genet 75:195-8. 2009
    ..Our results provide evidence that PTEN germline mutations may sustain a more wide phenotypical spectrum than previously suggested...
  6. ncbi A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome)
    A Orrico
    U O Genetica Medica, Policlinico Le Scotte, Siena, Italy
    FEBS Lett 478:216-20. 2000
    ..The Arg610Gln mutation represents the first case of a mutation in the PH domain of the FGD1 gene and additional evidence that mutations in PH domains can be associated to human diseases...
  7. ncbi SCN1A mutation associated with atypical Panayiotopoulos syndrome
    S Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, S. Maria alle Scotte Hospital, Siena, Italy
    Neurology 69:609-11. 2007
  8. ncbi Possible case of Pitt-Hopkins syndrome in sibs
    A Orrico
    Medical Genetics, Department of Molecular Biology, Policlinico Le Scotte, 53100 Siena, Italy
    Am J Med Genet 103:157-9. 2001
    ..The recurrence in sibs within the same family supports autosomal recessive inheritance for the condition. Variable expression of the respiratory symptoms, which has not been reported earlier, is underlined...
  9. ncbi Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient
    A Orrico
    Medical Genetics, Azienda Ospedaliera Senese, Siena, Italy
    J Child Neurol 16:150-3. 2001
    ..Furthermore, through refining the phenotype of a surviving patient, this report may contribute to a better recognition of this disorder in older affected children...
  10. ncbi MECP2 mutation in male patients with non-specific X-linked mental retardation
    A Orrico
    Medical Genetics, Policlinico Le Scotte, Sienna, Italy
    FEBS Lett 481:285-8. 2000
    ..These results indicate that MECP2 mutations are not necessarily lethal in males and that they can be causative of non-specific X-linked mental retardation...
  11. ncbi Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene
    A Orrico
    Department of Oncology, UOC Molecular Medicine, Azienda Ospedaliera Universitaria Senese, Siena, Italy
    Am J Med Genet A 143:58-63. 2007
    ....
  12. ncbi Autosomal recessive syndrome of growth and mental retardation, seizures, retinal abnormalities, and osteodysplasia with similarity to the Gurrieri syndrome
    A Orrico
    Dipartimento di Biologia Molecolare, U O Genetica Medica, Siena, Italy
    Am J Med Genet 82:84-7. 1999
    ..The new features described in these sibs could expand the clinical spectrum of the Gurrieri syndrome and confirm the existence of this rare autosomal recessive condition...
  13. ncbi Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region
    L Galli
    U.O. Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy
    Cell Calcium 32:143-51. 2002
    ..These results indicate that the C-terminal region of RYR1 represents an additional hot spot for mutations in patients with MH, similar to what has been reported for patients with CCD...
  14. ncbi SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy
    S Buoni
    Department of Pediatrics, University of Siena, Siena, Italy
    Neurology 66:606-7. 2006
  15. ncbi Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c
    L Galli
    Unit of Medical Genetics, Policlinico Le Scotte, Siena, Italy
    FEBS Lett 459:255-8. 1999
    ....
  16. ncbi Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia
    Lucia Galli
    Molecular Medicine Section, Department of Neuroscience, University of Siena and Azienda Ospedaliera Universitaria Senese, Siena, Italy
    Hum Mutat 27:830. 2006
    ..These data provide clear evidence that mutations in the RYR1 gene are the predominant cause of MH...
  17. ncbi Spinocerebellar ataxia type 2 (SCA2) associated with retinal pigmentary degeneration
    Alessandra Rufa
    Unit of Neurometabolic Disease and Research Centre for Diagnosis, Prevention and Therapy of Neurohandicaps, University of Siena, Siena, Italy
    Eur Neurol 47:128-9. 2002
  18. ncbi Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
    Christiane Zweier
    Institute of Human Genetics, Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Hum Genet 80:994-1001. 2007
    ....
  19. ncbi Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1
    Armand Bottani
    Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland
    Am J Med Genet A 143:2334-8. 2007
    ..Brain cortex malformations such as PMG could be initiated by mutations in the evolutionary conserved RhoGEF domain of FGD1, by perturbing the signaling via Rho GTPases such as Cdc42 known to cause brain malformation...
  20. ncbi A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres
    Daniela Rossi
    Molecular Medicine Section, Department of Neuroscience, University of Siena, Siena 53100, Italy
    J Med Genet 44:e67. 2007
    ....