Results 91 to 100 of about 912,080 (293)

Genetic testing and insurance [PDF]

Nature, 1996
P, Berg, M F, Singer
  +12 more sources

Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach [PDF]

, 2017
Mohamed Abdulkadir, Douglas Londoño, Derek Gordon, Thomas Fernandez, Lawrence W. Brown, Keun‐Ah Cheon, Barbara J. Coffey, Lonneke Elzerman, Carolin Fremer, Odette Fründt, Blanca García-Delgar, Donald L. Gilbert, Dorothy E. Grice, Tammy Hedderly, Isobel Heyman, Hyun Ju Hong, Chaim Huyser, Laura Ibanez-Gomez, Ewgeni Jakubovski, Young Key Kim, Young S. Kim, Yun‐Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett Leventhal, Andrea G. Ludolph, Marcos Madruga‐Garrido, Athanasios Maras, Pablo Mir, Ástrid Morer, Kirsten Müller‐Vahl, Alexander Münchau, Tara Murphy, Kerstin Jessica Plessen, Veit Roessner, Eun‐Young Shin, Dong‐Ho Song, Jungeun Song, Jennifer Tübing, Els van den Ban, Frank Visscher, Sina Wanderer, Martin Woods, Samuel H. Zinner, Robert A. King, Jay A. Tischfield, Gary A. Heiman, Pieter J. Hoekstra, Andrea Dietrich   +48 more
openalex   +1 more source

Testing and extending strategies for identifying genetic disease–related encounters in pediatric patients

, 2022
Lisa P. Spees, Karen Hicklin, Michael C. C. Adams, Laura Farnan, Jeannette T. Bensen, Donna Gilleskie, Jonathan S. Berg, Bradford C. Powell, Kristen Hassmiller Lich   +8 more
openalex   +2 more sources

PARP inhibitors elicit distinct transcriptional programs in homologous recombination competent castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
PARP inhibitors are used to treat a small subset of prostate cancer patients. These studies reveal that PARP1 activity and expression are different between European American and African American prostate cancer tissue samples. Additionally, different PARP inhibitors cause unique and overlapping transcriptional changes, notably, p53 pathway upregulation.
Moriah L. Cunningham, Jasibel Vasquez‐Gonzalez, Samantha M. Barnada, Salome Tchotorlishvili, Latese Jones, Ryan Maguire, Genevieve Lewis, Kinza Rizwan, Jenny Deng, Salma Koachar, Drithi Patel, Hailey Shankle, Tessa Mulders, Namra Ajmal, Charalambos Solomides, Emad S. Alnemri, Teresa F. Alnemri, Ayesha A. Shafi, Leonard G. Gomella, Wm Kevin Kelly, Steven B. McMahon, Matthew J. Schiewer   +21 more
wiley   +1 more source

Genetic testing for choroideremia

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for choroideremia (CHM). CHM is an inherited X-linked recessive disorder associated with variations in the CHM gene.
Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Viola Francesco, Garoli Elena, Colombo Leonardo, Bertelli Matteo   +7 more
doaj   +1 more source

Characterizing the salivary RNA landscape to identify potential diagnostic, prognostic, and follow‐up biomarkers for breast cancer

Molecular Oncology, EarlyView.
This study explores salivary RNA for breast cancer (BC) diagnosis, prognosis, and follow‐up. High‐throughput RNA sequencing identified distinct salivary RNA signatures, including novel transcripts, that differentiate BC from healthy controls, characterize histological and molecular subtypes, and indicate lymph node involvement.
Nicholas Rajan, Irina Primac, Emre Etlioglu, Laurens Debruyne, Ann Janssen, Magy Sallam, Kevin Tabury, Roel Quintens, Wiebren Tjalma, Mohammed Abderrafi Benotmane   +9 more
wiley   +1 more source

Probe-Based Quantitative PCR Assay for Detecting Constitutional and Somatic Deletions in the NF1 Gene: Application to Genetic Testing and Tumor Analysis [PDF]

, 2013
Ernest Terribas, Carles Garcia-Linares, Conxi Lázaro, Eduard Serra   +3 more
openalex   +1 more source

Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple: A case report

, 2021
Adina Neumann, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐del Angel, Nestor Alejandro Zarate Díaz, Javier Sam Santana, Leonardo M. Porchia, Esther López‐Bayghen   +6 more
openalex   +1 more source

Bridging the gap: Multi‐stakeholder perspectives of molecular diagnostics in oncology

Molecular Oncology, EarlyView.
Although molecular diagnostics is transforming cancer care, implementing novel technologies remains challenging. This study identifies unmet needs and technology requirements through a two‐step stakeholder involvement. Liquid biopsies for monitoring applications and predictive biomarker testing emerge as key unmet needs. Technology requirements vary by
Jorine Arnouts, Senada Koljenović, Elise Daems, Karolien De Wael, Marc Peeters, Léon C. van Kempen, Greetje Vanhoutte, Karen Zwaenepoel, Timon Vandamme   +8 more
wiley   +1 more source

Predicting cerebral infarction and transient ischemic attack in healthy individuals and those with dysmetabolism: a machine learning approach combined with routine blood tests

Scientific Reports
Ischemic cerebral infarction is the most prevalent type of stroke, causing significant disability and death worldwide. Transient ischemic attack (TIA) is a strong predictor of subsequent stroke.
Yunyun Yang, Lindan Huang, Ying Gu, Zhicheng Wang, Shuai Liu, Qun Chen, Wanshan Ning, Guolin Hong   +7 more
doaj   +1 more source