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Journal of Medical Genetics|June 1, 1997
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndromeS Lindsay, M Ireland, O O'Brien, et al.
Nutrition, Metabolism, and Cardiovascular Diseases : NMCD|November 30, 2015
No evidence of association between subclinical thyroid disorders and common carotid intima medial thickness or atherosclerotic plaqueA P Delitala, F Filigheddu, M Orrù, et al.
European Journal of Human Genetics : EJHG|May 1, 1997
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia lociM R Piemontese, E Memeo, M Carella, et al.
Nature Genetics|November 14, 1997
X-linked situs abnormalities result from mutations in ZIC3M Gebbia, G B Ferrero, G Pilia, et al.
Journal of the American Society of Nephrology : JASN|February 11, 2014
Prevalence of CKD and its relationship to eGFR-related genetic loci and clinical risk factors in the SardiNIA study cohortAntonello Pani, Jennifer Bragg-Gresham, Marco Masala, et al.
Genomics|December 1, 1991
Yeast artificial chromosome-based genome mapping: some lessons from Xq24-q28D Schlessinger, R D Little, D Freije, et al.
Human Mutation|October 26, 1999
Jagged-1 mutation analysis in Italian Alagille syndrome patientsG Pilia, M Uda, D Macis, et al.
American Journal of Medical Genetics|December 11, 1996
Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated familiesR M Hughes-Benzie, G Pilia, J Y Xuan, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 1, 2018
Kidney size in relation to ageing, gender, renal function, birthweight and chronic kidney disease risk factors in a general populationDoloretta Piras, Marco Masala, Alessandro Delitala, et al.
Nature Genetics|February 15, 2001
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndromeL Crisponi, M Deiana, A Loi, et al.
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