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European Journal of Human Genetics : EJHG|October 8, 2004
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndromeAnna Sarkozy, Maria Gabriela Obregon, Emanuela Conti, et al.
American Journal of Medical Genetics. Part A|December 15, 2007
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genesLaura Bernardini, Chiara Palka, Caterina Ceccarini, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Disomy of distal Xq in males: case report and overviewAntonio Novelli, Laura Bernardini, Damiano Carmelo Salpietro, et al.
American Journal of Human Genetics|June 12, 2002
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 geneMaria Cristina Digilio, Emanuela Conti, Anna Sarkozy, et al.
Orphanet Journal of Rare Diseases|May 18, 2013
The internet user profile of Italian families of patients with rare diseases: a web surveyAlberto E Tozzi, Rita Mingarelli, Eleonora Agricola, et al.
American Journal of Medical Genetics. Part A|November 15, 2007
Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplicationLaura Bernardini, Marco Castori, Anna Capalbo, et al.
Cancer Genetics and Cytogenetics|April 7, 2004
Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromasAlessandro De Luca, Laura Bernardini, Caterina Ceccarini, et al.
International Journal of Cardiology|March 20, 2009
Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in manAlessandro De Luca, Anna Sarkozy, Federica Consoli, et al.
European Journal of Human Genetics : EJHG|April 18, 2003
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 geneEmanuela Conti, Nicoletta Grifone, Anna Sarkozy, et al.
Human Mutation|August 10, 2005
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromasElena Pedrini, Alessandro De Luca, Enza Maria Valente, et al.
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