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List of works by Giuseppe Pilia

A Submicroscopic Deletion in Xq26 Associated with Familial Situs Ambiguus ⬇️

scientific article published on August 1, 1997

Aging of oocyte, ovary, and human reproduction

scientific article

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

scientific article

Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case

scientific article published in June 2006

DNA methylation in transcriptional repression of two differentially expressed X-linked genes, GPC3 and SYBL1.

scientific article

FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences

scientific article

Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development

scientific journal article

Foxl2 is required for commitment to ovary differentiation

scientific journal article

Genes and translocations involved in POF.

scientific article

Glypican 3 and glypican 4 are juxtaposed in Xq26.1

scientific article

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

scientific article

Heritability of cardiovascular and personality traits in 6,148 Sardinians

scientific article published on 10 July 2006

IRAK-M is involved in the pathogenesis of early-onset persistent asthma

scientific article

Jagged-1 mutation analysis in Italian Alagille syndrome patients

scientific article (publication date: 1999)

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

article

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

scientific article

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

scientific journal article

Personality traits in Sardinia: testing founder population effects on trait means and variances

scientific article published on 14 September 2006

Recombination trapping: an in-vivo approach to recover cDNAs encoded in YACs ⬇️

scientific article published on June 8, 1998

Stable integration and expression in mouse cells of yeast artificial chromosomes harboring human genes

scientific article published on March 1991

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

scientific article

X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content

scientific article published on March 1997

X-linked situs abnormalities result from mutations in ZIC3 ⬇️

scientific article published on November 1, 1997

Yeast artificial chromosome-based genome mapping: some lessons from Xq24-q28.

scientific article published on December 1991

Yeast artificial chromosomes spanning 8 megabases and 10-15 centimorgans of human cytogenetic band Xq26.

scientific article

ZNF75: isolation of a cDNA clone of the KRAB zinc finger gene subfamily mapped in YACs 1 Mb telomeric of HPRT

scientific article

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