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Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
Narumi Y, Aoki Y, Niihori T, Neri G, Cavé H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y. Narumi Y, et al. Among authors: neri g. Am J Med Genet A. 2007 Apr 15;143A(8):799-807. doi: 10.1002/ajmg.a.31658. Am J Med Genet A. 2007. PMID: 17366577
The Noonan-CFC controversy.
Neri G, Zollino M, Reynolds JF. Neri G, et al. Am J Med Genet. 1991 Jun 1;39(3):367-70. doi: 10.1002/ajmg.1320390323. Am J Med Genet. 1991. PMID: 1867292
Heterogeneity of cardio-facio-cutaneous syndrome.
Neri G, Opitz JM. Neri G, et al. Am J Med Genet. 2000 Nov 13;95(2):144. doi: 10.1002/1096-8628(20001113)95:2<144::aid-ajmg9>3.0.co;2-e. Am J Med Genet. 2000. PMID: 11078564 No abstract available.
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. van Bokhoven H, et al. Among authors: neri g. Am J Hum Genet. 2001 Sep;69(3):481-92. doi: 10.1086/323123. Epub 2001 Jul 17. Am J Hum Genet. 2001. PMID: 11462173 Free PMC article.
CFC syndrome.
Neri G, Kavamura MI, Zollino M, Opitz JM. Neri G, et al. Am J Med Genet A. 2003 Feb 1;116A(4):410. doi: 10.1002/ajmg.a.10012. Am J Med Genet A. 2003. PMID: 12522802 No abstract available.
933 results