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Studi pubblicati nel 2010

  1. Castori M, Annessi G, Castiglia D, Buffa V, Paradisi A, Cascone P, Zambruno G, Grammatico P, Paradisi M. Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae and blepharophimosis: a novel epidermal nevus syndrome. Am J Med Genet A. 2010 Jan;152A(1):25-31. IF: 2,404
  2. Cialfi S, Oliviero C, Ceccarelli S, Marchese C, Barbieri L, Biolcati G, Uccelletti D, Palleschi C, Barboni L, De Bernardo C, Grammatico P, Magrelli A, Salvatore M, Taruscio D, Frati L, Gulino A, Screpanti I, Talora C. Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease. Br J Dermatol. Mar;162(3):518-26, 2010. IF: 4,206
  3. Castori M, Camerota F, Celletti C, Danese C, Santilli V, Saraceni VM, Grammatico P. Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients. Am J Med Genet A, Mar;152A(3):556-64, 2010. IF: 2,404
  4. Castori M, Camerota F, Celletti C, Grammatico P, Padua L. Quality of life in the classic and hypermobility types of Elhers-Danlos Syndrome. Annals of  Neurology  Jan;67(1):145-6, 2010. IF: 9,317
  5. Giordano F, Abballe A, De Felip E, di Domenico A, Ferro F, Grammatico P, Ingelido AM, Marra V, Marrocco G, Vallasciani S, Figà-Talamanca I. Maternal exposures to Endocrine Disrupting Chemicals (EDCs) and Hypospadias in the offspring. Birth Defects Res A Clin Mol Teratol. Apr;88(4):241-50, 2010. IF: 1,908
  6. 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. Novel and Recurrent p14ARF Mutations in Italian Familial Melanoma. Clin Genet. Jun;77(6):581-6, 2010. IF: 3,304
  7. Iannicelli M,Brancati F, Mougou-Zerelli S, Mazzotta A,Thomas S,Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D’Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P, the International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Human Mutation, May;31(5):E1319-31, 2010. IF: 6,887
  8. Castori M, Laino L, Briganti V, Pedace L, Zampini A, Marconi M, Grammatico B, Buffone E, Grammatico P. Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome. Eur J Med Genet. May-Jun;53(3):149-52, 2010. IF: 1,568
  9. Castori M, Silvestri E, Cappellacci S, Binni F, Sforzolini GS, Grammatico P. Sirenomelia and VACTERL association in the offspring of a woman with diabetes. Am J Med Genet A. Jul;152A(7):1803-7, 2010. IF: 2,404
  10. Giuliani R, Antonucci I, Torrente I, Grammatico P, Palka G, Stuppia L. Identification of the second CFTR mutation in patients with congenital bulateral absence of vas deferens undergoing ART protocols Asian Journal of Andrology:12(6):819-826,2010. IF: 1,688
  11. Castori M, Valiante M, Ritelli M, Preziosi N, Colombi M, Paradisi M, Grammatico P. Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. Am J Med Genet A. Aug;152A(8):2043-7.2010. IF: 2,404
  12. Castori M, Camerota F, Celletti C, Grammatico P, Padua L. Ehlers-Danlos syndrome hypermobility type and the excess of affected females: possible mechanisms and perspectives. Am J Med Genet A. 2010 Sep;152A(9):2406-8. IF: 2,404
  13. Castori M, Cascone P, Valiante M, Laino L, Iannetti G, Hennekam RC, Grammatico P. Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance. Am J Med Genet A. Nov;152A(11):2810-5,2010. IF: 2,404
  14. Castori M, Cascone P, Brinelli M, Iannetti G, Grammatico P. The Nosology of Richieri-Costa/Guion-Almeida Syndrome(s) Am J Med Genet A. 2010 Dec 22 (Epub ahead of print) IF: 2,404
  15. Camerota F, Celletti C, Castori M, Grammatico P, Padua. Neuropathic pain is a common features in Ehlers-Danlos syndrome. J Pain Symptom Manage Dec 7, 2010. IF: 2,423

LA GENETICA INCONTRA LA DERMATOLOGIA

Roma, 4-5 dicembre 2017

Direttori: Stefano Calvieri, Paola Grammatico, Aldo Morrone

Rivolto a: Medici specialisti e specializzandi in: Genetica medica, Dermatologia, Laboratorio di Genetica medica, Oncologia; Biologi.

Approfondimento

PRIMO INCONTRO NAZIONALE SULLE SINDROMI DI EHLERS-DANLOS E PATOLOGIE CORRELATE

VIII EDIZIONE

Roma, 14-15 dicembre 2017

Direttori: Marco Castori, Stefania Cruciani, Paola Grammatico

Rivolto a: Medici specializzati e specializzandi in cardiologia, cardiochirurgia, fisiatria, genetica medica, ginecologia, neurologia, neuropsichiatria infantile, ortopedia, pediatria, urologia. Biologi, fisioterapisti, infermieri, terapisti della neuro psicomotricità dell’età evolutiva.

Approfondimento