Binni F - Search Results

1

Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.

Martinelli S, Carta C, Flex E, Binni F, Cordisco EL, Moretti S, Puxeddu E, Tonacchera M, Pinchera A, McDowell HP, Dominici C, Rosolen A, Di Rocco C, Riccardi R, Celli P, Picardo M, Genuardi M, Grammatico P, Sorcini M, Tartaglia M. Martinelli S, et al. Among authors: binni f. Cancer Genet Cytogenet. 2006 Apr 15;166(2):124-9. doi: 10.1016/j.cancergencyto.2005.10.003. Cancer Genet Cytogenet. 2006. PMID: 16631468

2

Identification of a novel duplication in the APC gene using multiple ligation probe amplification in a patient with familial adenomatous polyposis.

Pedace L, Majore S, Megiorni F, Binni F, De Bernardo C, Antigoni I, Preziosi N, Mazzilli MC, Grammatico P. Pedace L, et al. Among authors: binni f. Cancer Genet Cytogenet. 2008 Apr 15;182(2):130-5. doi: 10.1016/j.cancergencyto.2008.01.009. Cancer Genet Cytogenet. 2008. PMID: 18406876

3

Novel and recurrent p14 mutations in Italian familial melanoma.

Binni F, Antigoni I, De Simone P, Majore S, Silipo V, Crisi A, Amantea A, Pacchiarini D, Castori M, De Bernardo C, Catricalà C, Grammatico P. Binni F, et al. Clin Genet. 2010 Jun;77(6):581-6. doi: 10.1111/j.1399-0004.2009.01298.x. Epub 2010 Feb 4. Clin Genet. 2010. PMID: 20132244

4

ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease.

Majore S, Biolcati G, Barboni L, Cannistraci C, Binni F, Crisi A, Picardo M, Grammatico P. Majore S, et al. Among authors: binni f. J Invest Dermatol. 2005 Nov;125(5):933-5. doi: 10.1111/j.0022-202X.2005.23941.x. J Invest Dermatol. 2005. PMID: 16297192 Free article.

5

Paradoxical association of extensive nevus flammeus together with unilateral lower limb and breast hypoplasia.

Castori M, Majore S, Binni F, Grammatico P. Castori M, et al. Among authors: binni f. Am J Med Genet A. 2009 Feb;149A(2):266-7. doi: 10.1002/ajmg.a.32591. Am J Med Genet A. 2009. PMID: 19133697 No abstract available.

6

Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis.

Giancotti A, Castori M, Spagnuolo A, Binni F, D'Ambrosio V, Pasquali G, Pizzuti A, Grammatico P. Giancotti A, et al. Among authors: binni f. Am J Med Genet A. 2011 Jul;155A(7):1756-8. doi: 10.1002/ajmg.a.34052. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671381 No abstract available.

7

Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis.

Castori M, Sarazani S, Binni F, Pezzella FR, Cruciani G, Grammatico P. Castori M, et al. Among authors: binni f. Am J Med Genet A. 2011 Sep;155A(9):2253-6. doi: 10.1002/ajmg.a.34140. Epub 2011 Aug 3. Am J Med Genet A. 2011. PMID: 21815260

8

Sirenomelia and VACTERL association in the offspring of a woman with diabetes.

Castori M, Silvestri E, Cappellacci S, Binni F, Sforzolini GS, Grammatico P. Castori M, et al. Among authors: binni f. Am J Med Genet A. 2010 Jul;152A(7):1803-7. doi: 10.1002/ajmg.a.33460. Am J Med Genet A. 2010. PMID: 20583159

9

HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis.

Majore S, Binni F, Pennese A, De Santis A, Crisi A, Grammatico P. Majore S, et al. Among authors: binni f. Hum Mutat. 2004 Apr;23(4):400. doi: 10.1002/humu.9232. Hum Mutat. 2004. PMID: 15024747

10

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs.

Stuppia L, Antonucci I, Binni F, Brandi A, Grifone N, Colosimo A, De Santo M, Gatta V, Gelli G, Guida V, Majore S, Calabrese G, Palka C, Ravani A, Rinaldi R, Tiboni GM, Ballone E, Venturoli A, Ferlini A, Torrente I, Grammatico P, Calzolari E, Dallapiccola B. Stuppia L, et al. Among authors: binni f. Eur J Hum Genet. 2005 Aug;13(8):959-64. doi: 10.1038/sj.ejhg.5201437. Eur J Hum Genet. 2005. PMID: 15870824

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