A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (<i>OTOF</i>) in subjects with nonsyndromic hearing impairment and auditory neuropathy

Montserrat Rodríguez-Ballesteros, Raúl Reynoso, M. A. Gil Olarte, +25

Human Mutation

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

Giulia Soldà, Michela Robusto, Paola Primignani, +6

Human Molecular Genetics

Mir96 GenePre-mirna ProcessingGeneticsMolecular GeneticsEpigenetics +20

Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: Efficiency, reliability, and risks on 317 completed pregnancies

B. Brambati, Giuseppe Simoni, Maurizio Travi, +7

Prenatal Diagnosis

Prenatal diagnosis of fetal hemoglobin Lepore-Boston disease on maternal peripheral blood

Clara Camaschella, A Alfarano, Enrico Gottardi, +4

Blood

Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure

Giacomo Colussi, Liat Ganon, Silvana Penco, +6

Nephrology Dialysis Transplantation

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Nele Hilgert, Matthew J. Huentelman, Ashley Q. Thorburn, +53

European Journal of Human Genetics

Genetic AnalysisAllelic VariantPhenotypic VariationGenetic DisorderGenetics +6

Parkin analysis in early onset Parkinson's disease

Francesca Sironi, Paola Primignani, Michela Zini, +20

Parkinsonism & Related Disorders

Parkin AnalysisParkinson DiseaseNeurochemical BiomarkersNeuroscienceNeurology +3

α-Synuclein multiplication analysis in Italian familial Parkinson disease

Francesca Sironi, Luca Trotta, Angelo Antonini, +10

Parkinsonism & Related Disorders

Neurodegenerative DiseasesParkinson DiseaseDegenerative Pathologyα-Synuclein Multiplication AnalysisNeuroscience +5

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy

Michela Robusto, Mingyan Fang, Rosanna Asselta, +14

European Journal of Human Genetics

Genetic DisorderGeneticsPathologyMolecular GeneticsX-linked Hearing Loss +7

A novel dominant missense mutation – D179N – in the <i>GJB2</i> gene (Connexin 26) associated with non‐syndromic hearing loss

Paola Primignani, Pierangela Castorina, Francesca Sironi, +3

Clinical Genetics