AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo, +67

Nature Communications

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene

Caterina Carbonara, Lucia Longa, Enrico Grosso, +4

Human Molecular Genetics

CytogeneticsGeneticsPathologyMolecular GeneticsDisease Gene Identification +14

Apparent preferential loss of heterozygosity atTSC2 overTSC1 chromosomal region in tuberous sclerosis hamartomas

Caterina Carbonara, Lucia Longa, Enrico Grosso, +16

Genes Chromosomes and Cancer

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis

Viviana Palazzo, Aldesia Provenzano, Francesca Becherucci, +31

Kidney International

HemodialysisUrologyRenal FunctionMedicineGenetic Epidemiology +6

Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

Marco Bonomi, Valeria Vezzoli, Csilla Krausz, +142

European Journal of Endocrinology

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

Eleonora Di Gregorio, Evelise Riberi, Elga Fabia Belligni, +40

Clinical Genetics

Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi

Francesca Romana Grati, Beatrice Grimi, Giuditia Frascoli, +9

European Journal of Human Genetics

OocyteInfertilityUniparental DisomyDevelopmental BiologyCytogenetics +11

Altered molecular pathways in melanocytic lesions

Maria Scatolini, Maurizia Mello Grand, Enrico Grosso, +6

International Journal of Cancer

Altered Molecular PathwaysMelanoma MetastasesSkin CancerPhotocarcinogenesisMelanoma +12

Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype

Francesca Lombardi, F Gullotta, Marta Columbaro, +13

The Journal of Clinical Endocrinology & Metabolism

Effects of inositol supplementation in a cohort of mothers at risk of producing an NTD pregnancy

Pietro Cavalli, Gabriele Tonni, Enrico Grosso, +1

Birth Defects Research Part A Clinical and Molecular Teratology

NutritionFertilityReproductive HealthFetal MedicineGynecology +30