Publications by authors named "Emanuela Conti"

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CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects.
Anna Sarkozy, Giorgia Esposito, Emanuela Conti, Maria Cristina Digilio, Bruno Marino

Am J Med Genet A· December 2005

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NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
Alessandro De Luca, Irene Bottillo, Anna Sarkozy, Claudio Carta, Cinzia Neri, Emanuela Conti

Am J Hum Genet· December 2005

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Hyperthrophic cardiomyopathy and the PTPN11 gene.
Anna Sarkozy, Emanuela Conti, Francesca Romana Lepri, Antonio Pizzuti, Bruno Dallapiccola

Am J Med Genet A· July 2005

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Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2.
M Cristina Digilio, Bruno Marino, Rossella Capolino, Adriano Angioni, Anna Sarkozy, Emanuela Conti

Am J Med Genet A· April 2005

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ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.
Anna Sarkozy, Emanuela Conti, Rita D'Agostino, Maria Cristina Digilio, Roberto Formigari

Am J Med Genet A· February 2005

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A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.
Anna Sarkozy, Maria Gabriela Obregon, Emanuela Conti, Giorgia Esposito, Rita Mingarelli

Eur J Hum Genet· December 2004

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Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.
Lorenzo Sinibaldi, Alessandro De Luca, Emanuele Bellacchio, Emanuela Conti, Augusto Pasini

Hum Mutat· December 2004

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LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease.
Marineh Yagubyan, Jean M Panneton, Noralane M Lindor, Emanuela Conti, Anna Sarkozy

J Vasc Surg· April 2004

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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, Giuseppe Pacileo, Anna Sarkozy, Giuseppe Limongelli, Emanuela Conti

Birth Defects Res A Clin Mol Teratol· February 2004

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Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
Antonio Pizzuti, Anna Sarkozy, Anthea L Newton, Emanuela Conti, Elisabetta Flex

Hum Mutat· November 2003

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Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies.
Francesca Amati, Ivano Condò, Emanuela Conti, Federica Sangiuolo, Bruno Dallapiccola

Cell Biochem Funct· September 2003

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DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.
Emanuela Conti, Nicoletta Grifone, Anna Sarkozy, Caterina Tandoi, Bruno Marino

Eur J Hum Genet· April 2003

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Nonsyndromic pulmonary valve stenosis and the PTPN11 gene.
Anna Sarkozy, Emanuela Conti, Giorgia Esposito, Antonio Pizzuti, Bruno Dallapiccola

Am J Med Genet A· February 2003

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Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia.
Alessandro De Luca, Emanuela Conti, Nicoletta Grifone, Francesca Amati, Gianfranco Spalletta

Am J Med Genet B Neuropsychiatr Genet· January 2003

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Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
Maria Cristina Digilio, Emanuela Conti, Anna Sarkozy, Rita Mingarelli, Tania Dottorini

Am J Hum Genet· August 2002

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Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L).
Francesca Amati, Emanuela Conti, Annalisa Botta, Paola Amicucci, Bruno Dallapiccola

Cell Biochem Funct· June 2002

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