|1.||Tartaglia, Marco: 3 articles (04/2014 - 10/2002)|
|2.||Zampino, Giuseppe: 3 articles (04/2014 - 10/2002)|
|3.||Aoki, Yoko: 2 articles (01/2015 - 12/2011)|
|4.||Leoni, Chiara: 2 articles (01/2015 - 04/2014)|
|5.||Seaver, Laurie H: 2 articles (11/2014 - 08/2014)|
|6.||Selicorni, Angelo: 2 articles (04/2014 - 03/2007)|
|7.||Digilio, Maria Cristina: 2 articles (04/2014 - 01/2014)|
|8.||Dallapiccola, Bruno: 2 articles (01/2014 - 03/2007)|
|9.||Zenker, Martin: 2 articles (01/2014 - 11/2007)|
|10.||Kratz, Christian P: 2 articles (05/2011 - 11/2007)|
|1.||Noonan Syndrome (Female Pseudo-Turner Syndrome)
01/20/2015 - "[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients]."
03/01/2010 - "Cardiofaciocutaneous syndrome (CFC) and Noonan syndrome (NS) are two phenotypically overlapping genetic disorders whose underlying molecular etiologies affect a common signaling pathway. "
03/01/2010 - "Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome."
01/01/2010 - "Thus, it is important to dismiss in these patients the diagnosis of syndromes such as the Noonan syndrome and Cardiofaciocutaneous syndrome, which have high morbidity and mortality rates. "
03/01/2007 - "To further investigate the phenotypic spectrum associated with germline HRAS mutations and characterize their molecular diversity, subjects with a diagnosis of CS (N = 9), Noonan syndrome (NS; N = 36), cardiofaciocutaneous syndrome (CFCS; N = 4), or with a phenotype suggestive of these conditions but without a definitive diagnosis (N = 12) were screened for the entire coding sequence of the gene. "
01/01/2015 - "Skin findings were characteristic of cardiofaciocutaneous syndrome, including keratosis pilaris, ichthyosis, sparse eyebrows, and multiple nevi. "
05/01/2010 - "Previously reported skin and hair findings in cardiofaciocutaneous syndrome include sparse, slow-growing curly hair, atopic dermatitis, ichthyosis, follicular hyperkeratosis, and keratosis pilaris. "
09/01/1997 - "Furthermore, we pay attention to syndromes whose description and study are of current importance: cardiofaciocutaneous syndrome, neutral lipids storage disease with ichthyosis, multiple sulphatase deficiency disease and peroxisomal disorders. "
|3.||Peripheral Nervous System Diseases (PNS Diseases)
04/01/2007 - "The present case is, to our knowledge, the first reported case of peripheral neuropathy in association with cardiofaciocutaneous syndrome. "
04/01/2007 - "Peripheral neuropathy in cardiofaciocutaneous syndrome."
08/15/2005 - "Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study."
|4.||Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
|4.||Burnett Schwartz Berberian syndrome
|7.||DNA (Deoxyribonucleic Acid)
|8.||Noonan like syndrome
|9.||coenzyme Q10 (CoQ10)