PIK3R1, HRAS and AR Gene Alterations Associated with Sclerosing Polycystic Adenoma of the Parotid Gland

por Bahmad, Hisham F., Elhammady, Gina, Gass, Jennifer M., Paramo, Juan C., Poppiti, Robert, Alexis, John
Publicado 2023

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency

por Lara‐Velazquez, Montserrat, Perdomo‐Pantoja, Alexander, Blackburn, Patrick R., Gass, Jennifer M., Caulfield, Thomas R., Atwal, Paldeep S.
Publicado 2017

Twelve-Year Survival in a Patient With Systemic Sclerosis–Associated Pulmonary Arterial Hypertension on Nifedipine Monotherapy

por Helgeson, Scott A., Enderby, Cher Y., Moss, John E., Gass, Jennifer M., Zeiger, Tonya K., Burger, Charles D.
Publicado 2019

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

por Harris, Antoneicka L., Blackburn, Patrick R., Richter, John E., Gass, Jennifer M., Caulfield, Thomas R., Mohammad, Ahmed N., Atwal, Paldeep S.
Publicado 2018

Late onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1

por Kaiwar, Charu, Macklin, Sarah K., Gass, Jennifer M., Jackson, Jessica, Klee, Eric W., Hines, Stephanie L., Stauffer, John A., Atwal, Paldeep S.
Publicado 2017

Maple syrup urine disease: mechanisms and management

por Blackburn, Patrick R, Gass, Jennifer M, Vairo, Filippo Pinto e, Farnham, Kristen M, Atwal, Herjot K, Macklin, Sarah, Klee, Eric W, Atwal, Paldeep S
Publicado 2017

Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia

por DeMeo, Natasha N., Burgess, Jeremy D., Blackburn, Patrick R., Gass, Jennifer M., Richter, John, Atwal, Herjot K., van Gerpen, Jay A., Atwal, Paldeep S.
Publicado 2017

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

por Blackburn, Patrick R., Selcen, Duygu, Gass, Jennifer M., Jackson, Jessica L., Macklin, Sarah, Cousin, Margot A., Boczek, Nicole J., Klee, Eric W., Dimberg, Elliot L., Kennelly, Kathleen D., Atwal, Paldeep S.
Publicado 2017

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

por Blackburn, Patrick R., Zimmermann, Michael T., Gass, Jennifer M., Harris, Kimberly G., Cousin, Margot A., Boczek, Nicole J., Ross, Owen A., Klee, Eric W., Brazis, Paul W., Van Gerpen, Jay A., Atwal, Paldeep S.
Publicado 2016

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

por Rutherford, Nicola J., Zhang, Yong-Jie, Baker, Matt, Gass, Jennifer M., Finch, NiCole A., Xu, Ya-Fei, Stewart, Heather, Kelley, Brendan J., Kuntz, Karen, Crook, Richard J. P., Sreedharan, Jemeen, Vance, Caroline, Sorenson, Eric, Lippa, Carol, Bigio, Eileen H., Geschwind, Daniel H., Knopman, David S., Mitsumoto, Hiroshi, Petersen, Ronald C., Cashman, Neil R., Hutton, Mike, Shaw, Christopher E., Boylan, Kevin B., Boeve, Bradley, Graff-Radford, Neill R., Wszolek, Zbigniew K., Caselli, Richard J., Dickson, Dennis W., Mackenzie, Ian R., Petrucelli, Leonard, Rademakers, Rosa
Publicado 2008