Bartoloni Riotto, Lucia

Title Year Hits Downloads
Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia 2013 203 0
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus 2012 270 0
Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome 2012 236 3
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing 2011 264 0
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls 2009 187 1
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations 2008 334 1
DNAI1 mutations explain only 2% of primary ciliary dykinesia 2008 354 278
Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation 2007 247 0
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1 2007 260 0
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects 2006 276 0
The human sugar-phosphate/phosphate exchanger family SLC37 2004 238 0
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia 2002 259 0
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia 2001 262 0
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency 2000 183 1
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) 2000 260 0
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity 2000 267 0
Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping 1999 259 0
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