A Battaglia

Summary

Affiliation: University of Pisa
Country: Italy

Publications

  1. doi Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
    Pediatrics 121:404-10. 2008
  2. ncbi Health supervision and anticipatory guidance of individuals with Wolf-Hirschhorn syndrome
    A Battaglia
    Am J Med Genet 89:111-5. 1999
  3. ncbi Etiologic yield of autistic spectrum disorders: a prospective study
    Agatino Battaglia
    University of Pisa, and Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
    Am J Med Genet C Semin Med Genet 142:3-7. 2006
  4. ncbi The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders
    Agatino Battaglia
    University of Pisa, and Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
    Am J Med Genet C Semin Med Genet 142:8-12. 2006
  5. ncbi The FG syndrome: report of a large Italian series
    A Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone Pisa, Italy
    Am J Med Genet A 140:2075-9. 2006
  6. ncbi Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome
    A Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone Pisa, Italy
    Am J Med Genet A 143:184-8. 2007
  7. ncbi On the selection of patients with developmental delay/mental retardation and autism spectrum disorders for genetic studies
    A Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone Pisa, Italy
    Am J Med Genet A 143:789-90. 2007
  8. ncbi Filippi syndrome: further clinical characterization
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Pisa, Italy
    Am J Med Genet A 146:1848-52. 2008
  9. doi Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision
    Agatino Battaglia
    Postgraduate Medical School, University of Pisa, Italy
    Am J Med Genet C Semin Med Genet 148:246-51. 2008
  10. pmc The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Calambrone, Pisa, Italy
    Orphanet J Rare Dis 3:30. 2008

Collaborators

Detail Information

Publications32

  1. doi Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
    Pediatrics 121:404-10. 2008
    ..Our aim was to delineate the natural history of deletion 1p36 and develop complete and accurate information with which to answer families' questions in the clinical setting...
  2. ncbi Health supervision and anticipatory guidance of individuals with Wolf-Hirschhorn syndrome
    A Battaglia
    Am J Med Genet 89:111-5. 1999
    ....
  3. ncbi Etiologic yield of autistic spectrum disorders: a prospective study
    Agatino Battaglia
    University of Pisa, and Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
    Am J Med Genet C Semin Med Genet 142:3-7. 2006
    ....
  4. ncbi The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders
    Agatino Battaglia
    University of Pisa, and Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
    Am J Med Genet C Semin Med Genet 142:8-12. 2006
    ..Subtelomeric analysis did not detect abnormalities in any of the subjects, suggesting the uselessness of such investigations in individuals with primary autism spectrum disorders...
  5. ncbi The FG syndrome: report of a large Italian series
    A Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone Pisa, Italy
    Am J Med Genet A 140:2075-9. 2006
    ..Experience with our series of patients suggests that the syndrome may be common, and should be routinely considered in the evaluation of children and adolescents with DD/MR...
  6. ncbi Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome
    A Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone Pisa, Italy
    Am J Med Genet A 143:184-8. 2007
    ..Our patients show features of partial 10p deletion syndrome rather than those of partial duplication 12p, confirming the general rule that deletions are more phenotypically penetrant than duplications...
  7. ncbi On the selection of patients with developmental delay/mental retardation and autism spectrum disorders for genetic studies
    A Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone Pisa, Italy
    Am J Med Genet A 143:789-90. 2007
  8. ncbi Filippi syndrome: further clinical characterization
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Pisa, Italy
    Am J Med Genet A 146:1848-52. 2008
    ..We review the literature and provide additional information delineating the genetic and neurological aspects of the syndrome...
  9. doi Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision
    Agatino Battaglia
    Postgraduate Medical School, University of Pisa, Italy
    Am J Med Genet C Semin Med Genet 148:246-51. 2008
    ..Our survey has also shown how the characteristic facial phenotype tends to be less pronounced in those patients with a smaller deletion, and microcephaly is not observed in the patients with certain cryptic unbalanced translocations...
  10. pmc The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Calambrone, Pisa, Italy
    Orphanet J Rare Dis 3:30. 2008
    ..Large idic(15) are nearly always sporadic. Antenatal diagnosis is possible. Management of inv dup(15) includes a comprehensive neurophysiologic and developmental evaluation. Survival is not significantly reduced...
  11. doi Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Calambrone, Pisa, Italy
    Dev Med Child Neurol 51:373-80. 2009
    ..Epilepsy represents a major clinical challenge in WHS; however, it has a good prognosis. Early diagnosis and treatment of atypical absences, subtle and often misdiagnosed, is mandatory...
  12. doi Further characterization of the new microdeletion syndrome of 16p11.2-p12.2
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Pisa, Italy
    Am J Med Genet A 149:1200-4. 2009
    ..Our observation further defines two different, contiguous 16p genomic regions, responsible for a distinct MCA/ID syndrome, and for autism, respectively...
  13. ncbi Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis
    A Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone Pisa, Italy
    Am J Med Genet A 140:144-50. 2006
    ..Trisomy 3q29 has not yet been reported, but our patients resembled cases with 3q26 trisomy suggesting that the critical region of duplication for this phenotype is in 3q29...
  14. ncbi The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, via dei Giaicnti 2, Calambrone, Pisa 56018, Italy
    Brain Dev 27:365-9. 2005
    ..To obtain better information on diagnosis and outcome in a clinical setting, we reviewed the available literature on clinical and behavioural phenotype of inv dup(15) syndrome...
  15. ncbi Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, via dei Giaicnti 2 56018 Calambrone, Pisa, Italy
    Brain Dev 27:362-4. 2005
    ..4p- syndrome is characterized by distinctive seizure and EEG patterns that facilitate the early diagnosis and management of such patients...
  16. ncbi Del 1p36 syndrome: a newly emerging clinical entity
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, via dei Giaicnti 2, 56018 Calambrone, Pisa, Italy
    Brain Dev 27:358-61. 2005
    ..To help child neurologists and other professionals in the recognition of this emerging and common chromosomal syndrome, we have reviewed published articles on patients with this deletion...
  17. ncbi Wolf-Hirschhorn syndrome (WHS): a history in pictures
    A Battaglia
    Stella Maris Scientific Research Institute Institute of Child Neurology and Psychiatry University of Pisa, Calambrone, Italy
    Clin Dysmorphol 9:25-30. 2000
    ..In this paper we show the changes, occurring over time, in facial appearance of affected individuals, to improve insight into the evolution of the phenotype, and to increase its diagnostic potential...
  18. ncbi Neuroimaging studies in the evaluation of developmental delay/mental retardation
    Agatino Battaglia
    Division of Pediatric Neurology and Psychiatry, Department of Procreative Medicine and Pediatrics, University of Pisa, Pisa, Italy
    Am J Med Genet C Semin Med Genet 117:25-30. 2003
    ..The essential role of magnetic resonance imaging (MRI) on the progress in the diagnostic recognition of malformations of cerebral cortical development is stressed...
  19. ncbi Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4
    A Battaglia
    Stella Maris Scientific Research Institute, Division of Child Neuropsychiatry, Department of Procreative Medicine and Pediatrics, University of Pisa, Calambrone Pisa, Italy
    Am J Med Genet 112:103-6. 2002
    ..In total there are four other kindreds described in the literature with this inversion, and the phenotype seems recognizable. Thus, we suggest that recombinant 4 syndrome is a discrete entity among 4p trisomy patients...
  20. ncbi Diagnostic evaluation of developmental delay/mental retardation: An overview
    Agatino Battaglia
    Division of Pediatric Neurology and Psychiatry, Department of Procreative Medicine and Pediatrics, University of Pisa, Pisa, Italy
    Am J Med Genet C Semin Med Genet 117:3-14. 2003
    ..This review will focus on the most appropriate investigations shown to be, at present, necessary to define the etiology of DD/MR, in the context of recommendations for the clinical evaluation of the patient with undiagnosed MR...
  21. ncbi Karyotype/phenotype correlations in duplication 4q: evidence for a critical region within 4q27-28 for preaxial defects
    A Battaglia
    Stella Maris Scientific Research Institute, Calambrone, Pisa, Italy
    Am J Med Genet A 134:334-7. 2005
  22. ncbi Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22
    R Battini
    Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone, 56018 Calambrone Pisa, Italy
    Am J Med Genet A 130:196-9. 2004
    ..32. Deletion extent could be estimated to be about 2.5 Mb, and this larger deletion may explain the severity of clinical features observed in our patient...
  23. ncbi del (9p) syndrome: proposed behavior phenotype
    A Chilosi
    Stella Maris Scientific Research Institute, Division of Child Neurology and Psychiatry, Department of Procreative Medicine and Pediatrics, University of Pisa, Calambrone (Pisa, Italy
    Am J Med Genet 100:138-44. 2001
    ..We hypothesize that there is a gene within the 9p22 region responsible for the neuropsychological profile described here...
  24. ncbi Chromosomal disorders associated with epilepsy
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone, Pisa, Italy
    Epileptic Disord 7:181-92. 2005
    ..We review the types of seizures, EEG findings, and their natural history in the chromosomal disorders that are consistently associated with epilepsy...
  25. doi The behavioral phenotype of the idic(15) syndrome
    Agatino Battaglia
    Postgraduate Medical School, University of Pisa, Italy
    Am J Med Genet C Semin Med Genet 154:448-55. 2010
    ....
  26. ncbi Periventricular heterotopia in fragile X syndrome
    F Moro
    IRCCS Fondazione Stella Maris, Pisa, Italy
    Neurology 67:713-5. 2006
    ..This observation suggests that the FMR1 gene is involved in neuronal migration and that abnormal neuronal migration, even beyond the resolution of MRI, contributes to the neurologic phenotype of FXS...
  27. ncbi Spectrum of epilepsy in terminal 1p36 deletion syndrome
    Nadia Bahi-Buisson
    Department of Pediatric Neurology, Hopital Necker Enfants Malades, AP HP, Universite Paris V, Paris, France, and INSERM, U663, Paris, France
    Epilepsia 49:509-15. 2008
    ..Previous reports have summarized the seizures types occurring in 1p36 deletion syndrome. To better define the spectrum of epilepsy, we studied 91 patients (median age 7.8 years) with confirmed 1p36 deletion...
  28. doi Genetic disorders associated with macrocephaly
    Charles A Williams
    Raymond C Philips Research and Education Unit, Division of Genetics, Department of Pediatrics, University of Florida, Gainesville, Florida 32610, USA
    Am J Med Genet A 146:2023-37. 2008
    ..The genetic macrocephaly conditions cover a broad spectrum of gene disorders and their related proteins have diverse biological functions. As of yet it is not clear what precise biological pathways lead to generalized brain overgrowth...
  29. ncbi Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations
    Sarah T South
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA
    Eur J Hum Genet 16:45-52. 2008
    ..Analysis of clinical manifestations of each patient also revealed that patients with an unbalanced translocation often presented with exceptions to some expected phenotypes...
  30. ncbi Mutation screening and association analysis of six candidate genes for autism on chromosome 7q
    Elena Bonora
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Eur J Hum Genet 13:198-207. 2005
    ..Association was also detected for several polymorphisms in the promoter and untranslated region of NRCAM, suggesting that alterations in expression of this gene may be linked to autism susceptibility...
  31. ncbi Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2)
    Hilary Coon
    Neurodevelopmental Genetics Project, Department of Psychiatry, University of Utah, Salt Lake City, Utah 84108, USA
    Am J Med Genet B Neuropsychiatr Genet 135:42-6. 2005
    ..007). We conclude that TPH2 may play a modest role in autism susceptibility, perhaps relating specifically to repetitive behaviors, pending replication of this result...
  32. ncbi MECP2 deletions and genotype-phenotype correlation in Rett syndrome
    Elisa Scala
    Medical Genetics, Molecular Biology Department, University of Siena, Siena, Italy
    Am J Med Genet A 143:2775-84. 2007
    ..Finally, results reported here clearly indicate that MECP2 large deletions are a common cause of classic Rett, and MLPA analysis is mandatory in MECP2-negative patients, especially in those more severely affected (P = 0.044)...