Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

Wendy P. Robinson, John Wagstaff, Fosco Bernasconi, +6

Journal of Medical Genetics

Pws Region MaterialUniparental DisomyMendelian DisorderCytogeneticsMolecular Markers +13

Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

Leda Dalprà, Daniela Giardino, Palma Finelli, +39

Genetics in Medicine

Genetic TestingCytogeneticsGenetic DisorderGeneticsPathology +11

10p12.1 deletion: HDR phenotype without DGS2 features

Elisa Benetti, Luisa Murer, Andrea Bordugo, +2

Experimental and Molecular Pathology

GeneticsMolecular GeneticsDisease Gene IdentificationGenomicsMedicine +2

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

Heather L. Wilson, John A. Crolla, Dena Walker, +9

European Journal of Human Genetics

Developmental BiologyDevelopmental Cognitive NeuroscienceDevelopmental GeneticsGeneticsMedicine +7

Interleukin-8 and CXCR1 Receptor Functional Polymorphisms and Susceptibility to Acute Pyelonephritis

Lina Artifoni, Susanna Negrisolo, Giovanni Montini, +8

The Journal of Urology

Identification of GDNF Gene Sequence Variations in Patients with Medullary Sponge Kidney Disease

Rossella Torregrossa, Franca Anglani, Antonia Fabris, +10

Clinical Journal of the American Society of Nephrology

Embryology and genetics of primary vesico-ureteric reflux and associated renal dysplasia

Luisa Murer, Elisa Benetti, Lina Artifoni

Pediatric Nephrology

GeneticsRenal PathologyGenetic EpidemiologyMolecular GeneticsDisease Gene Identification +15

PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies

Susanna Negrisolo, Elisa Benetti, Sonia Centi, +5

Clinical Genetics

GeneticsRenal PathologyPathologyDisease Gene IdentificationClinical Genetics +14

A Novel WT1 Gene Mutation in a Three-Generation Family with Progressive Isolated Focal Segmental Glomerulosclerosis

Elisa Benetti, Gianluca Caridi, Cristina Malaventura, +6

Clinical Journal of the American Society of Nephrology

Renal hypoplasia without optic coloboma associated with PAX2 gene deletion

Elisa Benetti, Lina Artifoni, Leonardo Salviati, +5

Nephrology Dialysis Transplantation