Patrizia Mella

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation

Yinzhu Jin, Cinzia Mazza, Jacinda R. Christie et al. · Blood · 2004 · 342 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDX1)

Georg S. Wengler, Arnalda Lanfranchi, T. Frusca et al. · The Lancet · 1996 · 241 citations

Life Sciences, Genetics, Hematology +12

Structural and Functional Basis for JAK3-Deficient Severe Combined Immunodeficiency

Fabio Candotti, Scott A. Oakes, James A. Johnston et al. · Blood · 1997 · 142 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +14

Common Polymorphisms of the Growth Hormone (GH) Receptor Do Not Correlate with the Growth Response to Exogenous Recombinant Human GH in GH-Deficient Children

Alba Pilotta, Patrizia Mella, M. Filisetti et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 86 citations · Full text

Medicine, Endocrinology, Genetics +17

Unexpected and variable phenotypes in a family with JAK3 deficiency

DM Frucht, Massimo Gadina, GJ Jagadeesh et al. · Genes and Immunity · 2001 · 73 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9