Research Topics
Genomes and Genes | Anna SarkozySummaryAffiliation: San Giovanni Rotondo and CSS-Mendel Institute Country: Italy Publications
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Publications
Leopard syndromeAnna 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...
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromesAnna Sarkozy
IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy
Am J Med Genet A 143:1009-11. 2007
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumAnna 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...- Costello syndrome: clinical diagnosis in the first year of lifeM 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... - LEOPARD syndrome: clinical diagnosis in the first year of lifeM 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... - Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndromeGiuseppe 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... - 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.... - NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndromeAlessandro 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... - Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutationsM 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... - Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlationsMaria 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... - A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndromeAnna 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... - ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresiaAnna 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... - 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.... - KBG syndromeFrancesco 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... - KBG syndrome in a cohort of Italian patientsFrancesco 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... - Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implicationsGerardo 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... - Familial recurrence of congenital heart disease: an overview and review of the literatureGiulio 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... - Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairViviana 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... - Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotypeClaudio Carta
Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
Am J Hum Genet 79:129-35. 2006.... - Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of FallotAntonio 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... - Ablepharon-macrostomia syndrome in a 46-year-old womanFrancesco 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... - Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2M Cristina Digilio
Medical Genetics, Bambino Gesu Hospital, Rome, Italy
Am J Med Genet A 134:158-64. 2005.... - DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 geneEmanuela 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... - Familial transposition of the great arteries caused by multiple mutations in laterality genesAlessandro 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)... - Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 geneMaria 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... - Primary hypothyroidism and osteopenia associated with Neuhauser syndromeAnna 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... - Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathyBhaswati 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... - Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndromeMarco 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... - LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the diseaseMarineh 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... - Congenital intrahepatic portosystemic venous shunt: an unusual feature in LEOPARD syndrome and in neurofibromatosis type 1Maria Cristina Digilio
Am J Med Genet A 134:457-8. 2005 - Hyperthrophic cardiomyopathy and the PTPN11 geneAnna Sarkozy
Am J Med Genet A 136:93-4. 2005 - Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteriesGerardo 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... - Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndromeGiuseppe 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... - Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old womanGiuseppe Limongelli
Department of Cardiology, Monaldi Hospital, Second University of Naples, Naples, Italy
Am J Med Genet A 146:327-9. 2008 - 22q11 deletion syndrome: a review of some developmental biology aspects of the cardiovascular systemAngelo Restivo
Department of Paediatrics, University of Rome La Sapienza, Italy
J Cardiovasc Med (Hagerstown) 7:77-85. 2006.... - Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndromeGiuseppe 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... - Diffuse coronary dilation in a young patient with LEOPARD syndromeGiuseppe Pacileo
Int J Cardiol 112:e35-7. 2006 - Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defectAnna Sarkozy
CSS Hospital, IRCCS, San Giovanni Rotondo, Italy
Am J Med Genet A 140:1970-2. 2006