Alfredo Orrico

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Christiane Zweier, Eiko K. de Jong, Markus Zweier et al. · The American Journal of Human Genetics · 2009 · 346 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Christiane Zweier, Maarit Peippo, Juliane Hoyer et al. · The American Journal of Human Genetics · 2007 · 323 citations · Full text

Medicine, Molecular Genetics, Psychiatry +5

<i>MECP2</i> mutation in male patients with non‐specific X‐linked mental retardation

Alfredo Orrico, Ching‐Wan Lam, Lucia Galli et al. · FEBS Letters · 2000 · 229 citations

Life Sciences, Genetics, Molecular Genetics +17

Novel <i>PTEN </i>mutations in neurodevelopmental disorders and macrocephaly

Alfredo Orrico, Laura Galli, Sabrina Buoni et al. · Clinical Genetics · 2009 · 108 citations

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

Alfredo Orrico, Lucia Galli, Maria Luigia Cavaliere et al. · European Journal of Human Genetics · 2003 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8