María Gabriela Obregón

22q11.2 deletion syndrome in diverse populations

Paul Kruszka, Yonit A. Addissie, Daniel E. McGinn et al. · American Journal of Medical Genetics Part A · 2017 · 165 citations · Full text

Ethnicity, Genetics, Genetic Epidemiology +19

Noonan syndrome in diverse populations

Paul Kruszka, Antonio R. Porras, Yonit A. Addissie et al. · American Journal of Medical Genetics Part A · 2017 · 89 citations · Full text

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome

Anna Sárközy, María Gabriela Obregón, Emanuela Conti et al. · European Journal of Human Genetics · 2004 · 54 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +5

Unusually severe expression of craniofacial features in Aarskog‐Scott syndrome due to a novel truncating mutation of the <i>FGD1</i> gene

Alfredo Orrico, Lucia Galli, María Gabriela Obregón et al. · American Journal of Medical Genetics Part A · 2006 · 36 citations

Genital Anomalies, Genetics, Pathology +17

Providing more evidence on <i>LZTR1</i> variants in Noonan syndrome patients

Josefina Chinton, Victoria Huckstadt, Mafalda Mucciolo et al. · American Journal of Medical Genetics Part A · 2019 · 31 citations