Results 261 to 270 of about 207,257 (328)

Genetic Etiology of Permanent Congenital Hypothyroidism in Korean Patients: A Whole-Exome Sequencing Study. [PDF]

Int J Mol Sci
Ahn J, Jeong H.
europepmc   +1 more source

Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy

, 2012
Erin L. Heinzen, Chantal Depondt, Gianpiero L. Cavalleri, Elizabeth K. Ruzzo, Sophie Nicole, Anna C. Need, Dongliang Ge, Min He, Elizabeth T. Cirulli, Qian Zhao, Kenneth Cronin, Curtis Gumbs, C. Ryan Campbell, Linda K. Hong, Jessica M. Maia, Kevin V. Shianna, Mark McCormack, Rodney A. Radtke, Gerard D. O'Conner, Mohamad A. Mikati, William Gallentine, Aatif M. Husain, Saurabh R. Sinha, Krishna Chinthapalli, Ram S. Puranam, James O McNamara, Ruth Ottman, Sanjay M. Sisodiya, Norman Delanty, David Goldstein   +29 more
openalex   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies. [PDF]

Hum Genomics
Zeng Z, Zhang L, Zhou Y, Zhang X, Yi H, Li H, Liu Y, Li J, Chen Q, Chen Y, Yu G, Yi J, Zhang Y, Zhang H, Dong Y.   +14 more
europepmc   +1 more source

Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models

, 2012
T. Daniel Andrews, B Whittle, Matthew A. Field, Bhavani Balakishnan, Yuxi Zhang, Yi-Hong Shao, V. Cho, Martyn Kirk, Mandeep Singh, Yu Xia, Jörg Hager, S. Winslade, G. Sjollema, Bruce Beutler, Anselm Enders, Christopher C. Goodnow   +15 more
openalex   +1 more source

Co‐occurrence of childhood absence epilepsy and self‐limited focal epilepsy interictal discharges: Differences from childhood absence epilepsy alone

Epileptic Disorders, EarlyView.
Abstract Objective Some children with Childhood Absence Epilepsy (CAE) exhibit focal abnormalities similar to those observed in Self‐Limited Focal Epilepsies of Childhood (SeLFEs). It remains unclear whether this subgroup of patients may present distinct clinical characteristics or prognoses compared to those with CAE and generalized discharges alone ...
Giulia Barbagallo, Giulia Nobile, Maria Grazia Calevo, Giulia Prato, Lino Nobili, Edoardo Canale, Maria Margherita Mancardi   +6 more
wiley   +1 more source

Novel Genetic Variants Associated with Diabetic Neuropathy Risk in Type 2 Diabetes: A Whole-Exome Sequencing Approach. [PDF]

Int J Mol Sci
Hajdú N, Tordai DZ, Rácz R, Ludvig Z, Istenes I, Békeffy M, Vági OE, Körei AE, Tóbiás B, Illés A, Pikó H, Kósa JP, Árvai K, Lakatos PA, Kempler P, Putz Z.   +15 more
europepmc   +1 more source

Whole Exome Sequencing in 26 Saudi Patients Expands the Mutational and Clinical Spectrum of Diabetic Nephropathy. [PDF]

Medicina (Kaunas)
Elfaki I, Mir R, Almowallad S, Almassabi RF, Albalawi W, Albalawi AD, Bhat AA, Barnawi J, Tayeb FJ, Jalal MM, Altayar MA, Altemani FH.   +11 more
europepmc   +1 more source

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders [PDF]

, 2018
et al.,, Warner, Brad W
core   +1 more source