LB
Bartoloni Riotto, Lucia
| Title | Published in | Access level | OA Policy | Year | Views | 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 | American journal of human genetics |  | 2013 | 566 | 0 | ||
| Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus | European journal of human genetics | | 2012 | 642 | 0 | ||
| Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome | Psychiatry research | | 2012 | 667 | 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 | Investigative ophthalmology & visual science | | 2011 | 617 | 0 | ||
| Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls | Human mutation | | 2009 | 469 | 0 | ||
| Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations | Human mutation | | 2008 | 732 | 0 | ||
| DNAI1 mutations explain only 2% of primary ciliary dykinesia | Respiration | | 2008 | 824 | 510 | ||
| Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation | American journal of medical genetics. Part A | | 2007 | 636 | 0 | ||
| Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1 | American journal of human genetics | | 2007 | 583 | 0 | ||
| DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects | American journal of respiratory and critical care medicine | | 2006 | 686 | 0 | ||
| The human sugar-phosphate/phosphate exchanger family SLC37 | Pflügers Archiv | | 2004 | 601 | 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 | Proceedings of the National Academy of Sciences of the United States of America | | 2002 | 666 | 0 | ||
| Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia | Genomics | | 2001 | 635 | 1 | ||
| No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) | Cytogenetics and cell genetics | | 2000 | 673 | 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 | Genomics | | 2000 | 521 | 1 | ||
| Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity | European journal of human genetics | | 2000 | 639 | 0 | ||
| Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping | Cytogenetics and cell genetics | | 1999 | 604 | 1 |
