M Cristina Digilio

Summary

Country: Italy

Publications

  1. ncbi Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location
    C Surace
    Dipartimento dei Laboratori, U O Anatomia Patologica, Struttura Semplice di Citogenetica e Genetica Molecolare, Ospedale Pediatrico Bambino Gesu, 00165 Roma, Italy
    Clin Genet 76:256-62. 2009
  2. ncbi Leopard syndrome
    Anna Sarkozy
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Elena 261, 00198, Rome, Italy
    Orphanet J Rare Dis 3:13. 2008
  3. ncbi Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2
    M Cristina Digilio
    Department of Medical Genetics, Bambino Gesu Hospital, Piazza S Onofrio 4, 00165 Rome, Italy
    Am J Med Genet A 149:2860-4. 2009
  4. ncbi Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations
    M Cristina Digilio
    Medical Genetics, Bambino Gesu Hospital, Rome, Italy
    Birth Defects Res A Clin Mol Teratol 70:95-8. 2004
  5. ncbi LEOPARD syndrome: clinical diagnosis in the first year of life
    M Cristina Digilio
    Medical Genetics and Pediatric Cardiology, Bambino Gesu Hospital, Rome, Italy
    Am J Med Genet A 140:740-6. 2006
  6. ncbi Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies
    M C Digilio
    Departments of Medical Genetics and Cytogenetics, Bambino Gesu Hospital, Rome, Italy
    Clin Genet 63:308-13. 2003
  7. ncbi PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype"
    M Cristina Digilio
    Medical Genetics, Bambino Gesu Hospital, Rome, Italy
    Eur J Pediatr 165:803-5. 2006
  8. ncbi Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1
    Maria Cristina Digilio
    Medical Genetics and Pediatric Cardiology, Bambino Gesu Pediatric Hospital, IRCCS, Rome, Italy
    Am J Med Genet A 155:2196-202. 2011
  9. ncbi Costello syndrome: clinical diagnosis in the first year of life
    M Cristina Digilio
    Medical Genetics, Pediatric Cardiology, Bronchopneumology, Bambino Gesu Hospital, Rome, Italy
    Eur J Pediatr 167:621-8. 2008
  10. ncbi Autosomal dominant transmission of nonsyndromic diastasis recti and weakness of the linea alba
    M Cristina Digilio
    Medical Genetics, , Rome, Italy
    Am J Med Genet A 146:254-6. 2008

Collaborators

Detail Information

Publications45

  1. ncbi Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location
    C Surace
    Dipartimento dei Laboratori, U O Anatomia Patologica, Struttura Semplice di Citogenetica e Genetica Molecolare, Ospedale Pediatrico Bambino Gesu, 00165 Roma, Italy
    Clin Genet 76:256-62. 2009
    ..In conclusion, our data suggest that a mechanism based on gene expression control besides haploinsufficiency should be considered to explain the common phenotypic features found in the mild ring 17 syndrome...
  2. ncbi Leopard syndrome
    Anna Sarkozy
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Elena 261, 00198, Rome, Italy
    Orphanet J Rare Dis 3:13. 2008
    ..Hearing should be evaluated annually until adulthood. With the only exception of ventricular hypertrophy, adults with LS do not require special medical care and long-term prognosis is favourable...
  3. ncbi Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2
    M Cristina Digilio
    Department of Medical Genetics, Bambino Gesu Hospital, Piazza S Onofrio 4, 00165 Rome, Italy
    Am J Med Genet A 149:2860-4. 2009
    ..Nevertheless, patients with hemifacial microsomia and microtia associated with clinical features typically associated with del22q11 should now have for specific cytogenetic testing...
  4. ncbi Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations
    M Cristina Digilio
    Medical Genetics, Bambino Gesu Hospital, Rome, Italy
    Birth Defects Res A Clin Mol Teratol 70:95-8. 2004
    ..Mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located at chromosome 12q24, have been identified in patients with LEOPARD syndrome...
  5. ncbi LEOPARD syndrome: clinical diagnosis in the first year of life
    M Cristina Digilio
    Medical Genetics and Pediatric Cardiology, Bambino Gesu Hospital, Rome, Italy
    Am J Med Genet A 140:740-6. 2006
    ..The clinical suspicion of LS may be confirmed by molecular screening for PTPN11 mutations. An early diagnosis of the disease is useful for the prospective care of associated medical problems and for precise genetic counseling...
  6. ncbi Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies
    M C Digilio
    Departments of Medical Genetics and Cytogenetics, Bambino Gesu Hospital, Rome, Italy
    Clin Genet 63:308-13. 2003
    ....
  7. ncbi PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype"
    M Cristina Digilio
    Medical Genetics, Bambino Gesu Hospital, Rome, Italy
    Eur J Pediatr 165:803-5. 2006
    ....
  8. ncbi Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1
    Maria Cristina Digilio
    Medical Genetics and Pediatric Cardiology, Bambino Gesu Pediatric Hospital, IRCCS, Rome, Italy
    Am J Med Genet A 155:2196-202. 2011
    ..Candidate genes include the GATA4 gene (in patients with del 8p23.1), NKX2.5 (based on published patients with isolated Ebstein anomaly) and a hypothetical gene in patients with del 1p36)...
  9. ncbi Costello syndrome: clinical diagnosis in the first year of life
    M Cristina Digilio
    Medical Genetics, Pediatric Cardiology, Bronchopneumology, Bambino Gesu Hospital, Rome, Italy
    Eur J Pediatr 167:621-8. 2008
    ..Following a clinical suspect of CS based on specific features, molecular screening of HRAS gene mutations should precede analysis of the other genes in the Ras-MAPK pathway implicated in related disorders with overlapping phenotypes...
  10. ncbi Autosomal dominant transmission of nonsyndromic diastasis recti and weakness of the linea alba
    M Cristina Digilio
    Medical Genetics, , Rome, Italy
    Am J Med Genet A 146:254-6. 2008
  11. ncbi Heterotaxy with left atrial isomerism in a patient with deletion 18p
    M C Digilio
    Medical Genetics and Pediatric Cardiology, Bambino Gesu Hospital, Rome, Italy
    Am J Med Genet 94:198-200. 2000
    ..Del 18p must be consid- ered when evaluating a patient with phenotypic anomalies and CHD in lateralization defects...
  12. ncbi Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2
    M Cristina Digilio
    Medical Genetics, Bambino Gesu Hospital, Rome, Italy
    Am J Med Genet A 134:158-64. 2005
    ....
  13. ncbi 3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs
    Maria Cristina Digilio
    Department of Medical Genetics, Bambino Gesu Pediatric Hospital, IRCCS, Rome, Italy
    Am J Med Genet A 149:1777-81. 2009
    ..Del 3q29 should be searched in subjects with unexplained mild/moderate mental retardation, microcephaly, and minor nonspecific facial anomalies...
  14. ncbi Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
    M Cristina Digilio
    Medical Genetics and Pediatric Cardiology, Bambino Gesu Hospital, Rome, Italy
    Am J Med Genet A 146:1815-9. 2008
    ....
  15. ncbi 16p subtelomeric duplication: a clinically recognizable syndrome
    Maria Cristina Digilio
    Medical Genetics and Pediatric Cardiology, Bambino Gesu Hospital, Rome, Italy
    Eur J Hum Genet 17:1135-40. 2009
    ..Thus, susceptibility to pulmonary vascular disease and other vascular anomalies can be a feature of dup16p, suggesting that this subtelomeric region in some respect could be related to vascular anomalies...
  16. ncbi Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications
    Gerardo Piacentini
    Pediatric Cardiology, Department of Pediatrics, La Sapienza University, Rome, Italy
    J Cardiovasc Med (Hagerstown) 8:7-11. 2007
    ..5 and GATA4 genes causing atrial septal defect). The future perspectives for the genetics of CHDs will involve three fields of interest: diagnosis; therapy; and prognosis...
  17. ncbi Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect
    Anna Sarkozy
    CSS Hospital, IRCCS, San Giovanni Rotondo, Italy
    Am J Med Genet A 140:1970-2. 2006
  18. ncbi Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome
    A Sarkozy
    CSS Hospital, IRCCS, San Giovanni Rotondo, Italy
    J Med Genet 41:e68. 2004
  19. ncbi Familial recurrence of congenital heart disease: an overview and review of the literature
    Giulio Calcagni
    Pediatric Cardiology, Department of Pediatrics, University La Sapienza, Rome, Italy
    Eur J Pediatr 166:111-6. 2007
    ..These studies may influence clinical practise guidelines through accurate genetic counselling, but also, they may have important implications in the knowledge of genetic and pathogenetic mechanisms of CHD...
  20. ncbi Hepatic fibrosis in Kabuki syndrome
    Valerio Nobili
    Department of Liver Disease, Bambino Gesu Hospital, Rome, Italy
    Am J Med Genet A 124:209-12. 2004
    ..Due to the expression patterns of Notch genes, involvement of the Notch signaling pathway in the development of heart and liver anomalies in KS should be considered...
  21. ncbi Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormality
    C Surace
    Dipartimento dei Laboratori, U O Anatomia Patologica, Struttura Semplice di Citogenetica e Genetica Molecolare, Ospedale Pediatrico Bambino Gesu, Roma, Italy
    Cytogenet Genome Res 121:215-21. 2008
    ..These findings emphasize the complexity of some only apparently simple chromosomal rearrangements and suggest a subtelomeric FISH approach to enhance diagnostic care when a cytogenetic terminal deletion is found...
  22. ncbi Anatomic patterns of conotruncal defects associated with deletion 22q11
    B Marino
    Department of Pediatric Cardiology, Bambino Gesu Hospital, Rome, Italy
    Genet Med 3:45-8. 2001
    ....
  23. ncbi Coeliac disease in Williams syndrome
    A Giannotti
    Servizio di Genetica Medica, Ospedale Bambino Gesu, IRCCS, Piazza S Onofrio 4, 00165, Roma, Italy
    J Med Genet 38:767-8. 2001
    ..In this study, CD was evaluated in a consecutive series of patients with WS, in order to estimate if the prevalence of CD in WS patients is higher than in the general population...
  24. ncbi Clinical and cardiorespiratory assessment in children with Down syndrome without congenital heart disease
    E Pastore
    Servizio di Medicina dello Sport, Ospedale Pediastrico Bambino Gesù, Rome, Italy
    Arch Pediatr Adolesc Med 154:408-10. 2000
    ..To assess the clinical and functional status of a young Down syndrome (DS) population without congenital heart disease...
  25. ncbi Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome
    U Giordano
    Sports Medicine Department, Ospedale Pediatrico Bambino Gesu, Piazza S Onofrio, 4 00165 Rome, Italy
    Pediatr Cardiol 22:509-11. 2001
    ..The data relating to the synthesis of elastin may have a direct relationship to the compliance of the arterial system, leading to hypertension...
  26. ncbi Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome
    Paolo Versacci
    Am J Med Genet A 138:185-6. 2005
  27. ncbi Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome)
    M C Digilio
    Department of Medical Genetics, Bambino Gesu Hospital, Rome, Italy
    Br J Audiol 33:329-33. 1999
    ..Audiological evaluation is recommended in patients with del22q11 in order to reduce the risk of speech deficit...
  28. ncbi Familial recurrence of nonsyndromic interrupted aortic arch and truncus arteriosus with atrioventricular canal
    M C Digilio
    Department of Medical Genetics, Bambino Gesu Hospital, 00165 Rome, Italy
    Teratology 61:329-31. 2000
    ..Multifactorial inheritance is probably involved in most cases of nonsyndromic conotruncal heart defects (CHDs), but Mendelian transmission is often suspected...
  29. ncbi Polyvalvular heart disease associated with short stature, facial anomalies, and mental retardation: an additional familial report
    M Cristina Digilio
    Am J Med Genet A 127:101-3. 2004
  30. ncbi Congenital heart defects in Kabuki syndrome
    M C Digilio
    Departments of Medical Genetics and Pediatric Cardiology, , Rome, Italy
    Am J Med Genet 100:269-74. 2001
    ..The high prevalence of CHD prompts accurate re-examination of patients evaluated by pediatric cardiologists in order to identify mild and still unrecognized cases of KS...
  31. ncbi Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome)
    M C Digilio
    Department of Medical Genetics, , Rome, Italy
    Genet Med 3:30-3. 2001
    ....
  32. ncbi Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence
    M C Digilio
    Departments of Medical Genetics and Pediatric Cardiology, , Rome
    Circulation 104:2809-14. 2001
    ....
  33. ncbi Radial aplasia and chromosome 22q11 deletion
    M C Digilio
    Department of Medical Genetics, Bambino Gesu Hospital, Rome, Italy
    J Med Genet 34:942-4. 1997
    ..To our knowledge, the present case is the first report of radial aplasia in del22q11. This observation further supports and extends the clinical variability of del22q11...
  34. ncbi Pure trisomy 19p syndrome in an infant with an extra ring chromosome
    A Novelli
    Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo e Istituto CSS Mendel, Rome, Italy
    Cytogenet Genome Res 111:182-5. 2005
    ..Karyotype analysis disclosed an extra mosaic ring chromosome, which included the whole 19p arm. Four additional patients with supernumerary ring 19 chromosomes have been reported, but none of them had pure trisomy 19p...
  35. ncbi Familial recurrence of anomalous origin of right pulmonary artery from the aorta
    Pasquale Vergara
    Am J Med Genet A 140:794-6. 2006
  36. ncbi Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries
    Gerardo Piacentini
    Department of Pediatrics and Genetics, University La Sapienza-Mendel Institute, Viale Regina Elena 324, 00161 Rome, Italy
    Am J Med Genet A 137:176-80. 2005
    ..The recurrence of TGA and CCTGA in the same family suggests a pathogenetic link between these two anatomically different malformations...
  37. ncbi Deletion 22q11 and isolated congenital heart disease
    M Cristina Digilio
    Int J Cardiol 123:364-5. 2008
    ..The experience of our group suggests that patients with CHD and del22 have classic or subtle extracardiac features, so that an accurate clinical evaluation of patients with CHD is needed before stating that the defect is isolated...
  38. ncbi Pulmonary atresia with ventricular septal defect: prevalence of deletion 22q11 in the different anatomic patterns
    S Anaclerio
    Pediatric Cardiology, Cardiac Surgery and Genetics, Bambino Gesi Hospital, Rome, Italy
    Ital Heart J 2:384-7. 2001
    ....
  39. ncbi High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism
    A Novelli
    IRCCS-CSS San Giovanni Rotondo and CSS-Mendel, University La Sapienza, Rome, Italy
    Clin Genet 66:30-8. 2004
    ..This study provides further evidence for the plasticity of subtelomeric regions, which often results in cryptic rearrangements, and recommends stringent criteria for selecting patient candidates to telomere analysis...
  40. ncbi Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
    M Pierdominici
    Laboratory of Cell Biology, Istituto Superiore di Sanit, Rome, Italy
    Clin Exp Immunol 132:323-31. 2003
    ..These findings suggest that the diversity of CD4 and CD8 TCRBV repertoires is decreased in patients with del22q11.2 syndrome, possibly as a result of either impaired thymic function and/or increased T-cell activation...
  41. ncbi Congenital diaphragmatic hernia in CHARGE syndrome
    G Casaccia
    Department of Surgical and Medical Neonatology, Bambino Gesu Pediatric Hospital, Rome, Italy
    Pediatr Surg Int 24:375-8. 2008
    ..On the basis of our study, we suggest that patients affected by CDH, facial asymmetry and cardiovascular or urogenital malformations, should be actively screened for CHARGE syndrome findings...
  42. ncbi Atrioventricular canal defect without Down syndrome: a heterogeneous malformation
    M C Digilio
    Department of Pediatric Cardiology, , Rome, Italy
    Am J Med Genet 85:140-6. 1999
    ..The peculiar anatomic subtypes of this cardiac defect are associated with specific genetic conditions...
  43. ncbi Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia
    M C Digilio
    Medical Genetics Department, , Rome, Italy
    Am J Med Genet 84:350-6. 1999
    ..Molecular studies could shed light on the genetic mechanisms implicated in the cause of the OFS and heterotaxia syndromes...
  44. ncbi Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors
    A Sarkozy
    CSS Hospital, IRCCS, San Giovanni Rotondo, Italy, and CSS- Mendel Institute, Rome, Italy
    J Med Genet 42:e16. 2005
  45. ncbi Transposition of the great arteries in asplenia and polysplenia phenotypes
    Bruno Marino
    Am J Med Genet 110:292-4. 2002