Pilia G - Search Results

1

A submicroscopic deletion in Xq26 associated with familial situs ambiguus.

Ferrero GB, Gebbia M, Pilia G, Witte D, Peier A, Hopkin RJ, Craigen WJ, Shaffer LG, Schlessinger D, Ballabio A, Casey B. Ferrero GB, et al. Among authors: pilia g. Am J Hum Genet. 1997 Aug;61(2):395-401. doi: 10.1086/514857. Am J Hum Genet. 1997. PMID: 9311745 Free PMC article.

2

X-linked situs abnormalities result from mutations in ZIC3.

Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B. Gebbia M, et al. Among authors: pilia g. Nat Genet. 1997 Nov;17(3):305-8. doi: 10.1038/ng1197-305. Nat Genet. 1997. PMID: 9354794

3

Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann Syndrome.

Gedeon AK, Kozman HM, Robinson H, Pilia G, Schlessinger D, Turner G, Mulley JC. Gedeon AK, et al. Among authors: pilia g. Am J Med Genet. 1996 Jul 12;64(1):63-8. doi: 10.1002/(SICI)1096-8628(19960712)64:1<63::AID-AJMG9>3.0.CO;2-S. Am J Med Genet. 1996. PMID: 8826450

4

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

5

Dinucleotide repeat polymorphism at Xq26.1 (DXS1114).

Weber C, Oudet C, Johnson S, Pilia G, Schlessinger D, Hanauer A. Weber C, et al. Among authors: pilia g. Hum Mol Genet. 1993 May;2(5):612. doi: 10.1093/hmg/2.5.612. Hum Mol Genet. 1993. PMID: 8518807 No abstract available.

6

Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1.

Trump D, Pilia G, Dixon PH, Wooding C, Thakrar R, Leigh SE, Nagaraja R, Whyte MP, Schlessinger D, Thakker RV. Trump D, et al. Among authors: pilia g. Hum Genet. 1996 Jan;97(1):60-8. doi: 10.1007/BF00218834. Hum Genet. 1996. PMID: 8557262

7

Dinucleotide repeat polymorphism close to IDS gene in Xq27.3-q28 (DXS1113).

Weber C, Oudet C, Johnson S, Pilia G, Schlessinger D, Hanauer A. Weber C, et al. Among authors: pilia g. Hum Mol Genet. 1993 May;2(5):612. doi: 10.1093/hmg/2.5.612-a. Hum Mol Genet. 1993. PMID: 8518808 No abstract available.

8

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.

9

YAC/STS map of 9 Mb of Xq26 at 100-kb resolution, localizing 6 ESTs, 6 genes, and 32 genetic markers.

Pilia G, MacMillan S, Nagaraja R, Mumm S, Weissenbach J, Schlessinger D. Pilia G, et al. Genomics. 1996 May 15;34(1):55-62. doi: 10.1006/geno.1996.0240. Genomics. 1996. PMID: 8661023

10

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

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