Anna Sarkozy

Summary

Affiliation: San Giovanni Rotondo and CSS-Mendel Institute
Country: Italy

Publications

  1. pmc 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
  2. ncbi Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes
    Anna Sarkozy
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Am J Med Genet A 143:1009-11. 2007
  3. pmc Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum
    Anna Sarkozy
    IRCCS, San Giovanni Rotondo, Dipartimento di Medicina Sperimentale e Patologia, Universita La Sapienza, Rome, Italy
    Hum Mutat 30:695-702. 2009
  4. 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
  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 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome
    Giuseppe Zampino
    Istituto di Clinica Pediatrica, Universita Cattolica del Sacro Cuore, Rome, Italy
    Hum Mutat 28:265-72. 2007
  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. pmc NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome
    Alessandro De Luca
    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Am J Hum Genet 77:1092-101. 2005
  9. 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
  10. pmc Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations
    Maria Lisa Dentici
    IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo e Istituto CSS Mendel, Rome, Italy
    Eur J Hum Genet 17:733-40. 2009

Collaborators

Detail Information

Publications38

  1. pmc 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...
  2. ncbi Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes
    Anna Sarkozy
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Am J Med Genet A 143:1009-11. 2007
  3. pmc Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum
    Anna Sarkozy
    IRCCS, San Giovanni Rotondo, Dipartimento di Medicina Sperimentale e Patologia, Universita La Sapienza, Rome, Italy
    Hum Mutat 30:695-702. 2009
    ..Val600Glu mutant. Our findings provide evidence for a wide phenotypic diversity associated with mutations affecting BRAF, and occurrence of a clinical continuum associated with these molecular lesions...
  4. 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...
  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 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome
    Giuseppe Zampino
    Istituto di Clinica Pediatrica, Universita Cattolica del Sacro Cuore, Rome, Italy
    Hum Mutat 28:265-72. 2007
    ..We noted an advanced age at conception in unaffected fathers transmitting the mutation...
  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. pmc NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome
    Alessandro De Luca
    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Am J Hum Genet 77:1092-101. 2005
    ..These results support the view that NFNS represents a variant of NF1 and is caused by mutations of the NF1 gene, some of which have been demonstrated to cause classic NF1 in other individuals...
  9. 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...
  10. pmc Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations
    Maria Lisa Dentici
    IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo e Istituto CSS Mendel, Rome, Italy
    Eur J Hum Genet 17:733-40. 2009
    ..Conversely, congenital heart defects, particularly mitral valve and septal defects, and ocular anomalies seem to be less frequent among MEK1/MEK2 mutation-positive patients...
  11. ncbi A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome
    Anna Sarkozy
    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Eur J Hum Genet 12:1069-72. 2004
    ..This observation joins together NS and LS to NLS into a unique genetic defect, broadening the clinical and molecular spectrum of PTPN11-related disorders...
  12. ncbi ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia
    Anna Sarkozy
    CSS Hospital, IRCCS, San Giovanni Rotondo, Italy CSS Mendel Institute, Rome, Italy
    Am J Med Genet A 133:68-70. 2005
    ..No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt...
  13. 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
    ....
  14. pmc KBG syndrome
    Francesco Brancati
    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Orphanet J Rare Dis 1:50. 2006
    ..Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment...
  15. ncbi KBG syndrome in a cohort of Italian patients
    Francesco Brancati
    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Am J Med Genet A 131:144-9. 2004
    ..Less common manisfestations were posterior fossa malformations, eye defects, and congenital heart defects...
  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 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...
  18. pmc Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
    Viviana Cordeddu
    Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, Rome, Italy
    Nat Genet 41:1022-6. 2009
    ..These results document the first example of an acquired N-terminal lipid modification of a protein causing human disease...
  19. pmc Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype
    Claudio Carta
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
    Am J Hum Genet 79:129-35. 2006
    ....
  20. ncbi Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot
    Antonio Pizzuti
    Dipartimento di Medicina Sperimentale e Patologia, Universita di Roma La Sapienza, Rome, Italy
    Hum Mutat 22:372-7. 2003
    ..ZFPM2/FOG2 gene mutations may contribute to some sporadic cases of TOF...
  21. ncbi Ablepharon-macrostomia syndrome in a 46-year-old woman
    Francesco Brancati
    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, I 00198 Rome, Italy
    Am J Med Genet A 127:96-8. 2004
    ..A clinical comparison between our patient and previously reported AMS cases aids in delineating the adult phenotype of AMS and further broadens the clinical spectrum of this condition...
  22. 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
    ....
  23. ncbi DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene
    Emanuela Conti
    CSS Hospital, IRCCS, San Giovanni Rotondo, Italy
    Eur J Hum Genet 11:349-51. 2003
    ..Besides a few polymorphisms, we did not find any pathogenetic variation. These results do not support a major role of the TBX1 gene as responsible for human nonsyndromic CTDs...
  24. doi Familial transposition of the great arteries caused by multiple mutations in laterality genes
    Alessandro De Luca
    Mendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy
    Heart 96:673-7. 2010
    ..In general, TGA is not associated with the more common genetic disorders nor with extracardiac anomalies, whereas it can be found in individuals with lateralisation defects, heterotaxy and asplenia syndrome (right isomerism)...
  25. pmc Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
    Maria Cristina Digilio
    Division of Medical Genetics, Bambino Gesu Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy
    Am J Hum Genet 71:389-94. 2002
    ..The detected mutations suggest that distinct molecular and pathogenetic mechanisms cause the peculiar cutaneous manifestations of the ML/LEOPARD-syndrome subtype of NS...
  26. ncbi Primary hypothyroidism and osteopenia associated with Neuhauser syndrome
    Anna Sarkozy
    Department of Molecular Medicine and Pathology, University La Sapienza, Rome, Italy
    Am J Med Genet 111:412-4. 2002
    ..These symptoms, previously reported in single patients, could be discrete features of MMR syndrome...
  27. ncbi Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
    Bhaswati Pandit
    Center for Molecular Cardiology, Department of Pediatrics and Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, New York 10029, USA
    Nat Genet 39:1007-12. 2007
    ..Our findings further implicate increased RAS signaling in pathological cardiomyocyte hypertrophy...
  28. ncbi Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Viale Regina Elena, 299, 00161 Rome, Italy
    Nat Genet 39:75-9. 2007
    ..Our findings implicate gain-of-function mutations in a RAS guanine nucleotide exchange factor in disease for the first time and define a new mechanism by which upregulation of the RAS pathway can profoundly change human development...
  29. ncbi LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease
    Marineh Yagubyan
    Division of Vascular Surgery, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA
    J Vasc Surg 39:897-900. 2004
    ..He has multiple other peripheral aneurysms, thus far asymptomatic. His diagnosis of LEOPARD syndrome was confirmed on a genetic basis. Review of the literature reveals no previous reports of severe aneurysmal disease in these patients...
  30. ncbi Congenital intrahepatic portosystemic venous shunt: an unusual feature in LEOPARD syndrome and in neurofibromatosis type 1
    Maria Cristina Digilio
    Am J Med Genet A 134:457-8. 2005
  31. ncbi Hyperthrophic cardiomyopathy and the PTPN11 gene
    Anna Sarkozy
    Am J Med Genet A 136:93-4. 2005
  32. 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...
  33. doi Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome
    Giuseppe Limongelli
    Monaldi Hospital, Second University of Naples, Naples, Italy
    Am J Med Genet A 146:620-8. 2008
    ..Further genotype-phenotype studies are warranted to fully elucidate the impact of the genotype on the natural history of patients with LS and LVH...
  34. doi Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman
    Giuseppe Limongelli
    Department of Cardiology, Monaldi Hospital, Second University of Naples, Naples, Italy
    Am J Med Genet A 146:327-9. 2008
  35. ncbi 22q11 deletion syndrome: a review of some developmental biology aspects of the cardiovascular system
    Angelo Restivo
    Department of Paediatrics, University of Rome La Sapienza, Italy
    J Cardiovasc Med (Hagerstown) 7:77-85. 2006
    ....
  36. ncbi Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome
    Giuseppe Limongelli
    Second University of Naples, Monaldi Hospital, Naples, Italy
    Am J Cardiol 100:736-41. 2007
    ..Long-term prognosis was benign, but the occurrence of 4 fatal events in patients with LV hypertrophy indicates that such patients require careful risk assessment and, in some cases, consideration for prophylaxis against sudden death...
  37. ncbi Diffuse coronary dilation in a young patient with LEOPARD syndrome
    Giuseppe Pacileo
    Int J Cardiol 112:e35-7. 2006
  38. 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