Bosco P - Search Results

1

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.

Gandin I, Faletra F, Faletra F, Carella M, Pecile V, Ferrero GB, Biamino E, Palumbo P, Palumbo O, Bosco P, Romano C, Belcaro C, Vozzi D, d'Adamo AP. Gandin I, et al. Among authors: bosco p. Genet Med. 2015 May;17(5):396-9. doi: 10.1038/gim.2014.118. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232855 Free article.

2

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability.

Morgan A, Gandin I, Belcaro C, Palumbo P, Palumbo O, Biamino E, Dal Col V, Laurini E, Pricl S, Bosco P, Carella M, Ferrero GB, Romano C, d'Adamo AP, Faletra F, Vozzi D. Morgan A, et al. Among authors: bosco p. Mutat Res. 2015 Nov;781:32-6. doi: 10.1016/j.mrfmmm.2015.09.002. Epub 2015 Sep 10. Mutat Res. 2015. PMID: 26411299

3

Differential expression of PARP1 mRNA in leucocytes of patients with Down's syndrome.

Salemi M, Barone C, Romano C, Ridolfo F, Gulotta E, Scavuzzo C, Salluzzo MG, Giambirtone M, Caraci F, Romano C, Bosco P. Salemi M, et al. Among authors: bosco p. J Genet. 2011 Dec;90(3):469-72. doi: 10.1007/s12041-011-0074-x. J Genet. 2011. PMID: 22227934 No abstract available.

4

Expression of LDOC1 mRNA in leucocytes of patients with Down's syndrome.

Salemi M, Barone C, Romano C, Ridolfo F, Salluzzo R, Scillato F, Scavuzzo C, Caraci F, Calogero AE, Romano C, Bosco P. Salemi M, et al. Among authors: bosco p. J Genet. 2012;91(1):95-8. J Genet. 2012. PMID: 22546831 No abstract available.

5

Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome.

Bosco P, Guéant-Rodriguez RM, Anello G, Barone C, Namour F, Caraci F, Romano A, Romano C, Guéant JL. Bosco P, et al. Am J Med Genet A. 2003 Sep 1;121A(3):219-24. doi: 10.1002/ajmg.a.20234. Am J Med Genet A. 2003. PMID: 12923861

6

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. Helsmoortel C, et al. Among authors: bosco p. Nat Genet. 2014 Apr;46(4):380-4. doi: 10.1038/ng.2899. Epub 2014 Feb 16. Nat Genet. 2014. PMID: 24531329 Free PMC article.

7

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. Coe BP, et al. Among authors: bosco p. Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14. Nat Genet. 2014. PMID: 25217958 Free PMC article.

8

SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes.

Salemi M, Romano C, Barone C, Calí F, Caraci F, Romano C, Scavuzzo C, Scillato F, Salluzzo MG, Piccione M, Martines M, Corsello G, Nicoletti F, Bosco P. Salemi M, et al. Among authors: bosco p. J Genet. 2009 Apr;88(1):93-7. doi: 10.1007/s12041-009-0013-2. J Genet. 2009. PMID: 19417550 No abstract available.

9

A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation.

Salemi M, Romano C, Ragusa L, Di Vita G, Salluzzo R, Oteri I, Trovato ML, Romano C, Caraci F, Nicoletti F, Bosco P. Salemi M, et al. Among authors: bosco p. Genet Test. 2007 Summer;11(2):124-7. doi: 10.1089/gte.2006.0510. Genet Test. 2007. PMID: 17627381

10

CASP3 protein expression by flow cytometry in Down's syndrome subjects.

Salemi M, Condorelli RA, Romano C, Concetta B, Romano C, Salluzzo MG, Bosco P, Calogero AE. Salemi M, et al. Among authors: bosco p. Hum Cell. 2014 Jan;27(1):43-5. doi: 10.1007/s13577-013-0071-x. Epub 2013 Dec 13. Hum Cell. 2014. PMID: 24338704

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