Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11 (2005)
Kalidas, Kamini, Shaw, Adam C., Crosby, Andrew H., Newbury-Ecob, Ruth, Greenhalgh, Lynn, Temple, Isabel K., ...
LEOPARD syndrome (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) is an...
Baralle, Diana, Mattocks, Chris, Kalidas, Kamini, Elmslie, Frances, Whittaker, Joanne, Lees, Melissa, ...
The association of the Noonan phenotype with neurofibromatosis type 1 (NF1) was first noted by Allanson et al. [Am J Med Genet 1985;21:457-462.] and 30 further cases have subsequently been reported....
A molecular genetic study of non-insulin dependent Diabetes Mellitus. (1997)
Thesis (Ph. D.)--University of London, 1997.
Tartaglia, Marco, Kalidas, Kamini, Shaw, Adam, Song, Xiaoling, Musat, Dan L., Van der Burgt, Ineke, ...
Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects, and skeletal malformations. We recently demonstrated that mutations in PTPN11, the...
Tartaglia, Marco, Cordeddu, Viviana, Chang, Hong, Shaw, Adam, Kalidas, Kamini, Crosby, Andrew, ...
Germline mutations in PTPN11—the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2—represent a major cause of Noonan syndrome (NS), a developmental disorder characterized by short...