Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg et al. · Nature Genetics · 2001 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +11

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

Marco Tartaglia, Simone Martinelli, Lorenzo Stella et al. · The American Journal of Human Genetics · 2006 · 431 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

M. Cristina Digilio, Emanuela Conti, Anna Sárközy et al. · The American Journal of Human Genetics · 2002 · 422 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

<i>PTPN11</i> mutations in LEOPARD syndrome

Eric Legius · Journal of Medical Genetics · 2002 · 273 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

Anna Sárközy · Journal of Medical Genetics · 2004 · 153 citations · Full text

Medicine, Cardiology, Human Genetics +9