Giglio S - Search Results

1

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, Zuffardi O. Kurtas NE, et al. Among authors: giglio s. Hum Mutat. 2019 Feb;40(2):193-200. doi: 10.1002/humu.23683. Epub 2018 Nov 22. Hum Mutat. 2019. PMID: 30412329 Free article.

2

Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

Piantanida M, Dellavecchia C, Floridia G, Giglio S, Hoeller H, Dordi B, Danesino C, Schinzel A, Zuffardi O. Piantanida M, et al. Among authors: giglio s. Hum Genet. 1997 Jun;99(6):766-71. doi: 10.1007/s004390050445. Hum Genet. 1997. PMID: 9187670

3

Transmission of a fully functional human neocentromere through three generations.

Tyler-Smith C, Gimelli G, Giglio S, Floridia G, Pandya A, Terzoli G, Warburton PE, Earnshaw WC, Zuffardi O. Tyler-Smith C, et al. Among authors: giglio s. Am J Hum Genet. 1999 May;64(5):1440-4. doi: 10.1086/302380. Am J Hum Genet. 1999. PMID: 10205277 Free PMC article.

4

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements.

Giglio S, Pirola B, Arrigo G, Dagrada P, Bardoni B, Bernardi F, Russo G, Argentiero L, Forabosco A, Carrozzo R, Zuffardi O. Giglio S, et al. Eur J Hum Genet. 2000 Jan;8(1):63-70. doi: 10.1038/sj.ejhg.5200394. Eur J Hum Genet. 2000. PMID: 10713889

5

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q.

Bonaglia MC, Giorda R, Poggi G, Raggi ME, Rossi E, Baroncini A, Giglio S, Borgatti R, Zuffardi O. Bonaglia MC, et al. Among authors: giglio s. Eur J Hum Genet. 2000 Aug;8(8):597-603. doi: 10.1038/sj.ejhg.5200509. Eur J Hum Genet. 2000. PMID: 10951522

6

CENP-G in neocentromeres and inactive centromeres.

Gimelli G, Zuffardi O, Giglio S, Zeng C, He D. Gimelli G, et al. Among authors: giglio s. Chromosoma. 2000;109(5):328-33. doi: 10.1007/s004120000082. Chromosoma. 2000. PMID: 11007491

7

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.

Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O. Giglio S, et al. Am J Hum Genet. 2001 Apr;68(4):874-83. doi: 10.1086/319506. Epub 2001 Feb 26. Am J Hum Genet. 2001. PMID: 11231899 Free PMC article.

8

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.

Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O. Giglio S, et al. Am J Hum Genet. 2002 Aug;71(2):276-85. doi: 10.1086/341610. Epub 2002 Jun 10. Am J Hum Genet. 2002. PMID: 12058347 Free PMC article.

9

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).

Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M. Gimelli G, et al. Among authors: giglio s. Hum Genet. 2002 Sep;111(3):235-41. doi: 10.1007/s00439-002-0791-6. Epub 2002 Aug 1. Hum Genet. 2002. PMID: 12215835

10

De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities.

Battisti C, Bonaglia MC, Giglio S, Anichini C, Pucci L, Dotti MT, Zuffardi O, Federico A. Battisti C, et al. Among authors: giglio s. Am J Med Genet A. 2003 Mar 15;117A(3):207-11. doi: 10.1002/ajmg.a.10149. Am J Med Genet A. 2003. PMID: 12599183

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