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Full-Text Articles in Diseases
Intellectual Disability Related To De Novo Germline Loss Of The Distal End Of The P-Arm Of Chromosome 17: A Case Report, Eden Pope, Matthew Huertas, Amar Paul, Braden Cunningham, Matthew Jennings, Ryan Perry, Stephanie Chavez, John A. Kriak, Kyle B. Bills, David W. Sant
Intellectual Disability Related To De Novo Germline Loss Of The Distal End Of The P-Arm Of Chromosome 17: A Case Report, Eden Pope, Matthew Huertas, Amar Paul, Braden Cunningham, Matthew Jennings, Ryan Perry, Stephanie Chavez, John A. Kriak, Kyle B. Bills, David W. Sant
Annual Research Symposium
Hypothesis/Purpose: In this report we present a case of a 20-year-old female with congenital intellectual disability, stunted growth, and hypothyroidism. Competitive genetic hybridization (CHG) revealed a loss of 17p13.3, and the deletion was not present in either parent. This deletion has not previously been characterized, but mutations on the p-arm of chromosome 17 are responsible for Miller-Dieker Syndrome and Isolated Lissencephaly Sequence, both of which share symptoms in common with the patient.
Methods: Peripheral mononuclear cells (PBMCs) were used for karyotyping and competitive genetic hybridization (CHG). Bioinformatic analysis was carried out using the Genome Data Viewer (ncbi.nlm.nih.gov/genome/gdv).
Results: Karyotype was …
Mclena-1: A Phase Ii Clinical Trial For The Assessment Of Safety, Tolerability, And Efficacy Of Lenalidomide In Patients With Mild Cognitive Impairment Due To Alzheimer's Disease; Trial Design And Rationale, Boris Decourt
Annual Research Symposium
No abstract provided.
Sulopenem For The Treatment Of Complicated And Uncomplicated Bacterial Urinary Tract Infection (Uti), Aiyi Chen, Thanh-Liem Vu, Daniel J. Yang, Landon Olsen
Sulopenem For The Treatment Of Complicated And Uncomplicated Bacterial Urinary Tract Infection (Uti), Aiyi Chen, Thanh-Liem Vu, Daniel J. Yang, Landon Olsen
Annual Research Symposium
No abstract provided.
Hypoglycemia: A Mimic Of Global Ischemic Injury, Zachary Leavitt, Jay Babu, Sannah Vasaya, Robert Balsinger, Aroucha Vickers
Hypoglycemia: A Mimic Of Global Ischemic Injury, Zachary Leavitt, Jay Babu, Sannah Vasaya, Robert Balsinger, Aroucha Vickers
Annual Research Symposium
No abstract provided.
Clinical Effects Of Lactobacillus Reuteri Probiotic In The Treatment Of Chronic Periodontitis: A Systematic Review Of Randomized Controlled Trials, Josephine Ram, Shilpa Bhandi, Kamran H. Awan, Frank Licari, Shankargouda Patil
Clinical Effects Of Lactobacillus Reuteri Probiotic In The Treatment Of Chronic Periodontitis: A Systematic Review Of Randomized Controlled Trials, Josephine Ram, Shilpa Bhandi, Kamran H. Awan, Frank Licari, Shankargouda Patil
Annual Research Symposium
No abstract provided.
Succinic Semialdehyde Dehydrogenase Deficiency (Ssadhd): Qualitative Needs Assessment For Patients With A Rare Neurological Disorder, Cassandra Bovee, Kayla Woodring
Succinic Semialdehyde Dehydrogenase Deficiency (Ssadhd): Qualitative Needs Assessment For Patients With A Rare Neurological Disorder, Cassandra Bovee, Kayla Woodring
Annual Research Symposium
No abstract provided.
C17: Programmed Cell Death Ligand- 1 Expression As A Prognostic Indicator In Oral Squamous Cell Carcinoma, Dr. Samar Saeed Khan
C17: Programmed Cell Death Ligand- 1 Expression As A Prognostic Indicator In Oral Squamous Cell Carcinoma, Dr. Samar Saeed Khan
Annual Research Symposium
No abstract provided.