Bosco P - Search Results

1

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

van Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EE. van Bon BW, et al. Among authors: bosco p. Mol Psychiatry. 2016 Jan;21(1):126-32. doi: 10.1038/mp.2015.5. Epub 2015 Feb 24. Mol Psychiatry. 2016. PMID: 25707398 Free PMC article.

2

Allele varepsilon4 of apolipoprotein E gene is less frequent in Down syndrome patient of the Sicilian population and has no influence on the grade of mental retardation.

Anello G, Guéant J, Romano C, Barone C, Pettinato R, Pillot T, Rodriguez R, Romano A, Bosco P. Anello G, et al. Among authors: bosco p. Neurosci Lett. 2001 Jun 22;306(1-2):129-31. doi: 10.1016/s0304-3940(01)01851-1. Neurosci Lett. 2001. PMID: 11403974

3

Homocysteine and related genetic polymorphisms in Down's syndrome IQ.

Guéant JL, Anello G, Bosco P, Guéant-Rodríguez RM, Romano A, Barone C, Gérard P, Romano C. Guéant JL, et al. Among authors: bosco p. J Neurol Neurosurg Psychiatry. 2005 May;76(5):706-9. doi: 10.1136/jnnp.2004.039875. J Neurol Neurosurg Psychiatry. 2005. PMID: 15834031 Free PMC article.

4

A peculiar VNTR in the cystathionine β-synthase gene is a risk factor for Down Syndrome.

Salemi M, Barone C, Romano C, Salluzzo MG, Giambirtone M, Morale MC, Calogero AE, Grillo L, Bosco P, Romano C. Salemi M, et al. Among authors: bosco p. Cell Mol Biol (Noisy-le-grand). 2015 Oct 16;61(5):49-51. Cell Mol Biol (Noisy-le-grand). 2015. PMID: 26475388

5

Expression of STRBP mRNA in patients with cryptorchidism and Down's syndrome.

Salemi M, La Vignera S, Castiglione R, Condorelli RA, Cimino L, Bosco P, Romano C, Romano C, Calogero AE. Salemi M, et al. Among authors: bosco p. J Endocrinol Invest. 2012 Jan;35(1):5-7. doi: 10.1007/BF03345414. J Endocrinol Invest. 2012. PMID: 22391137

6

Medial telangiectatic sacral nevi (Types A and C) associated with Williams syndrome.

Schepis C, Greco D, Bosco P, Ragusa A, Romano C. Schepis C, et al. Among authors: bosco p. Dermatology. 2000;201(3):285-6. doi: 10.1159/000018486. Dermatology. 2000. PMID: 11096215 No abstract available.

7

Association of IL-1 RN*2 allele and methionine synthase 2756 AA genotype with dementia severity of sporadic Alzheimer's disease.

Bosco P, Guéant-Rodríguez RM, Anello G, Romano A, Namour B, Spada RS, Caraci F, Tringali G, Ferri R, Guéant JL. Bosco P, et al. J Neurol Neurosurg Psychiatry. 2004 Jul;75(7):1036-8. doi: 10.1136/jnnp.2003.025866. J Neurol Neurosurg Psychiatry. 2004. PMID: 15201366 Free PMC article.

8

Does a peculiar EEG pattern exist also for FRAXE mental retardation?

Musumeci SA, Scuderi C, Ferri R, Anello G, Salluzzo R, Bosco P, Elia M. Musumeci SA, et al. Among authors: bosco p. Clin Neurophysiol. 2000 Sep;111(9):1632-6. doi: 10.1016/s1388-2457(00)00367-9. Clin Neurophysiol. 2000. PMID: 10964075

9

Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans.

Guéant-Rodriguez RM, Rendeli C, Namour B, Venuti L, Romano A, Anello G, Bosco P, Debard R, Gérard P, Viola M, Salvaggio E, Guéant JL. Guéant-Rodriguez RM, et al. Among authors: bosco p. Neurosci Lett. 2003 Jul 3;344(3):189-92. doi: 10.1016/s0304-3940(03)00468-3. Neurosci Lett. 2003. PMID: 12812837

10

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population.

Romano V, Guldberg P, Güttler F, Meli C, Mollica F, Pavone L, Giovannini M, Riva E, Biasucci G, Luotti D, Palillo L, Calí F, Ceratto N, Anello G, Bosco P. Romano V, et al. Among authors: bosco p. J Inherit Metab Dis. 1996;19(1):15-24. doi: 10.1007/BF01799343. J Inherit Metab Dis. 1996. PMID: 8830172

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