Giglio S - Search Results

1

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O. Novara F, et al. Among authors: giglio s. Eur J Hum Genet. 2017 Jun;25(6):694-701. doi: 10.1038/ejhg.2017.49. Epub 2017 Apr 19. Eur J Hum Genet. 2017. PMID: 28422132 Free PMC 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

Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25.

Pirola B, Bortotto L, Giglio S, Piovan E, Janes A, Guerrini R, Zuffardi O. Pirola B, et al. Among authors: giglio s. J Med Genet. 1998 Dec;35(12):1031-3. doi: 10.1136/jmg.35.12.1031. J Med Genet. 1998. PMID: 9863602 Free PMC article.

4

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.

5

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

6

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects.

Giglio S, Graw SL, Gimelli G, Pirola B, Varone P, Voullaire L, Lerzo F, Rossi E, Dellavecchia C, Bonaglia MC, Digilio MC, Giannotti A, Marino B, Carrozzo R, Korenberg JR, Danesino C, Sujansky E, Dallapiccola B, Zuffardi O. Giglio S, et al. Circulation. 2000 Jul 25;102(4):432-7. doi: 10.1161/01.cir.102.4.432. Circulation. 2000. PMID: 10908216

7

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

8

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.

9

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.

10

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

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