Pilia G - Search Results

1

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.

Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D. Pilia G, et al. Nat Genet. 1996 Mar;12(3):241-7. doi: 10.1038/ng0396-241. Nat Genet. 1996. PMID: 8589713

2

Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.

Hughes-Benzie RM, Pilia G, Xuan JY, Hunter AG, Chen E, Golabi M, Hurst JA, Kobori J, Marymee K, Pagon RA, Punnett HH, Schelley S, Tolmie JL, Wohlferd MM, Grossman T, Schlessinger D, MacKenzie AE. Hughes-Benzie RM, et al. Among authors: pilia g. Am J Med Genet. 1996 Dec 11;66(2):227-34. doi: 10.1002/(SICI)1096-8628(19961211)66:2<227::AID-AJMG20>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8958336

3

Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

Lindsay S, Ireland M, O'Brien O, Clayton-Smith J, Hurst JA, Mann J, Cole T, Sampson J, Slaney S, Schlessinger D, Burn J, Pilia G. Lindsay S, et al. Among authors: pilia g. J Med Genet. 1997 Jun;34(6):480-3. doi: 10.1136/jmg.34.6.480. J Med Genet. 1997. PMID: 9192268 Free PMC article.

4

Analysis of exon/intron structure and 400 kb of genomic sequence surrounding the 5'-promoter and 3'-terminal ends of the human glypican 3 (GPC3) gene.

Huber R, Crisponi L, Mazzarella R, Chen CN, Su Y, Shizuya H, Chen EY, Cao A, Pilia G. Huber R, et al. Among authors: pilia g. Genomics. 1997 Oct 1;45(1):48-58. doi: 10.1006/geno.1997.4916. Genomics. 1997. PMID: 9339360

5

Multiple Sp1 sites efficiently drive transcription of the TATA-less promoter of the human glypican 3 (GPC3) gene.

Huber R, Schlessinger D, Pilia G. Huber R, et al. Among authors: pilia g. Gene. 1998 Jul 3;214(1-2):35-44. doi: 10.1016/s0378-1119(98)00233-9. Gene. 1998. PMID: 9651473

6

Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling.

Chiao E, Fisher P, Crisponi L, Deiana M, Dragatsis I, Schlessinger D, Pilia G, Efstratiadis A. Chiao E, et al. Among authors: pilia g. Dev Biol. 2002 Mar 1;243(1):185-206. doi: 10.1006/dbio.2001.0554. Dev Biol. 2002. PMID: 11846487 Free article.

7

BLOCK-based PCR markers to find gene family members in human and comparative genome analysis.

D'Esposito M, Pilia G, Schlessinger D. D'Esposito M, et al. Among authors: pilia g. Hum Mol Genet. 1994 May;3(5):735-40. doi: 10.1093/hmg/3.5.735. Hum Mol Genet. 1994. PMID: 7915930

8

Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome.

Pellegrini M, Pilia G, Pantano S, Lucchini F, Uda M, Fumi M, Cao A, Schlessinger D, Forabosco A. Pellegrini M, et al. Among authors: pilia g. Dev Dyn. 1998 Dec;213(4):431-9. doi: 10.1002/(SICI)1097-0177(199812)213:4<431::AID-AJA8>3.0.CO;2-7. Dev Dyn. 1998. PMID: 9853964 Free article.

9

Glypican 3 and glypican 4 are juxtaposed in Xq26.1.

Huber R, Mazzarella R, Chen CN, Chen E, Ireland M, Lindsay S, Pilia G, Crisponi L. Huber R, et al. Among authors: pilia g. Gene. 1998 Dec 28;225(1-2):9-16. doi: 10.1016/s0378-1119(98)00549-6. Gene. 1998. PMID: 9931407

10

Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28.

Taillon-Miller P, Bauer-Sardiña I, Saccone NL, Putzel J, Laitinen T, Cao A, Kere J, Pilia G, Rice JP, Kwok PY. Taillon-Miller P, et al. Among authors: pilia g. Nat Genet. 2000 Jul;25(3):324-8. doi: 10.1038/77100. Nat Genet. 2000. PMID: 10888883

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