Giglio S - Search Results

1

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism.

Errichiello E, Giorda R, Gambale A, Iolascon A, Zuffardi O, Giglio S. Errichiello E, et al. Among authors: giglio s. Mol Genet Genomic Med. 2021 Jan;9(1):e1561. doi: 10.1002/mgg3.1561. Epub 2020 Dec 19. Mol Genet Genomic Med. 2021. PMID: 33340270 Free PMC article.

2

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

Banfi S, Borsani G, Rossi E, Bernard L, Guffanti A, Rubboli F, Marchitiello A, Giglio S, Coluccia E, Zollo M, Zuffardi O, Ballabio A. Banfi S, et al. Among authors: giglio s. Nat Genet. 1996 Jun;13(2):167-74. doi: 10.1038/ng0696-167. Nat Genet. 1996. PMID: 8640222

3

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

4

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.

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

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

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

Inverted duplications: how many of them are mosaic?

Pramparo T, Giglio S, Gregato G, de Gregori M, Patricelli MG, Ciccone R, Scappaticci S, Mannino G, Lombardi C, Pirola B, Giorda R, Rocchi M, Zuffardi O. Pramparo T, et al. Among authors: giglio s. Eur J Hum Genet. 2004 Sep;12(9):713-7. doi: 10.1038/sj.ejhg.5201240. Eur J Hum Genet. 2004. PMID: 15266302

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