Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations

Por Tung, Joanna Yuet-ling, Boodhansingh, Kara, Stanley, Charles A, De León, Diva D
Publicado no Pediatr Diabetes (2018)

A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase

Por Barrosse-Antle, Mary, Su, Chang, Chen, Pan, Boodhansingh, Kara E., Smith, Thomas J, Stanley, Charles A, De León, Diva D., Li, Changhong
Publicado no Pediatr Diabetes (2017)

Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations

Por Martin, Gregory M., Rex, Emily A., Devaraneni, Prasanna, Denton, Jerod S., Boodhansingh, Kara E., DeLeon, Diva D., Stanley, Charles A., Shyng, Show-Ling
Publicado no J Biol Chem (2016)

Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2

Por Ferrara, Christine T., Boodhansingh, Kara E., Paradies, Eleonora, Giuseppe, Fiermonte, Steinkrauss, Linda J., Topor, Lisa Swartz, Quintos, Jose Bernardo, Ganguly, Arupa, De Leon, Diva D., Palmieri, Ferdinando, Stanley, Charles A.
Publicado no J Clin Endocrinol Metab (2016)

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency

Por Gibson, Christopher E., Boodhansingh, Kara E., Li, Changhong, Conlin, Laura, Chen, Pan, Becker, Susan A., Bhatti, Tricia, Bamba, Vaneeta, Adzick, N. Scott, De Leon, Diva D., Ganguly, Arupa, Stanley, Charles A.
Publicado no Horm Res Paediatr (2018)

Dominant Form of Congenital Hyperinsulinism Maps to HK1 Region on 10q

Por Pinney, Sara E., Ganapathy, Karthik, Bradfield, Jonathan, Stokes, David, Sasson, Ariella, Mackiewicz, Katarzyna, Boodhansingh, Kara, Hughes, Nkecha, Becker, Susan, Givler, Stephanie, Macmullen, Courtney, Monos, Dimitrios, Ganguly, Arupa, Hakonarson, Hakon, Stanley, Charles A.
Publicado em 2013

Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect

Por Bhatti, Tricia R., Ganapathy, Karthik, Huppmann, Alison R., Conlin, Laura, Boodhansingh, Kara E., MacMullen, Courtney, Becker, Susan, Ernst, Linda M., Adzick, N. Scott, Ruchelli, Eduardo D., Ganguly, Arupa, Stanley, Charles A.
Publicado no J Clin Endocrinol Metab (2016)

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith– Wiedemann syndrome

Por Kalish, Jennifer M, Boodhansingh, Kara E, Bhatti, Tricia R, Ganguly, Arupa, Conlin, Laura K, Becker, Susan A, Givler, Stephanie, Mighion, Lindsey, Palladino, Andrew A, Adzick, N Scott, De León, Diva D, Stanley, Charles A, Deardorff, Matthew A
Publicado no J Med Genet (2015)

Functional and Metabolomic Consequences of K(ATP) Channel Inactivation in Human Islets

Por Li, Changhong, Ackermann, Amanda M., Boodhansingh, Kara E., Bhatti, Tricia R., Liu, Chengyang, Schug, Jonathan, Doliba, Nicolai, Han, Bing, Cosgrove, Karen E., Banerjee, Indraneel, Matschinsky, Franz M., Nissim, Itzhak, Kaestner, Klaus H., Naji, Ali, Adzick, N. Scott, Dunne, Mark J., Stanley, Charles A., De León, Diva D.
Publicado no Diabetes (2017)