Results 61 to 70 of about 687,041 (305)

Clinical Genetics of Alzheimer’s Disease

BioMed Research International, 2014
Alzheimer’s disease (AD) is the most common progressive neurodegenerative disease and the most common form of dementia in the elderly. It is a complex disorder with environmental and genetic components. There are two major types of AD, early onset and the more common late onset.
Zou, Zhangyu, Liu, Changyun, Che, Chunhui, Huang, Huapin   +3 more
openaire   +2 more sources

Guidelines for Pediatric Radiotherapy Simulation: A Report From the Children's Oncology Group Radiation Oncology Discipline

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric radiation therapy presents unique challenges compared to adult treatments, including those of immobilization, potential need for sedation, and the critical importance of accurate, reproducible positioning. Additionally, heightened attention to imaging doses is necessary to minimize long‐term toxicity in survivors.
Parham Alaei, Stephen Mihalcik, Sujith Baliga, Young Kwok, Dana Casey, Eric Ehler, Christiane Burton, John C. Breneman, Daphne A. Haas‐Kogan, Suzanne L. Wolden, Arnold C. Paulino, Nadia N. Laack, Natia Esiashvili, Sarah Milgrom, Christine Hill‐Kayser, Thomas J. Fitzgerald, John A. Kalapurakal, Chia‐Ho Hua   +17 more
wiley   +1 more source

Advances in Clinical Genetics of the Ehlers-Danlos Syndromes

罕见病研究
The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
XU Kexin, LI Guozhuang, LI Qing, YIN Xiangjie, FANG Kun, WU Zhihong, ZHANG Jianguo, DISCO (Deciphering Disorders Involving Scoliosis ＆ COmorbidities) Study Group, WU Nan   +8 more
doaj   +1 more source

Improved Early Referral in Long‐Term Survivor Care With Institutional Standardized Practice Among Childhood Leukemia Survivors#

Pediatric Blood &Cancer, EarlyView.
ABSTRACT In 2018, the Texas Children's Cancer and Hematology Center Leukemia Program implemented a practice standard to support the transition from treatment to survivorship that includes shared, alternating care between leukemia and survivorship clinicians and a reminder to refer survivors to the long‐term survivor clinic (LTSC) 2 years after ...
Ji Yun Tark, Kayla L. Foster, Omar Shakeel, Mary C. Shapiro, Shawki L. Qasim, ZoAnn Dreyer, Eric S. Schafer, Ashley M. Butler, Austin L. Brown, Maria Monica Gramatges   +9 more
wiley   +1 more source

Tell me once, tell me soon: parents’ preferences for clinical genetics services for congenital heart disease [PDF]

, 2018
© 2018, American College of Medical Genetics and Genomics. Purpose: As the molecular basis of congenital heart disease (CHD) comes into sharper focus, cardiac genetics services are likely to play an increasingly important role.
Viney, R, Kasparian, NA, Gary F. Sholler, Richard De Abreu Lourenco, Sholler, GF, Edwin P.E. Kirk, Winlaw, DS, De Abreu Lourenco, R, David S. Winlaw, Rosalie Viney, Kirk, EPE, Nadine A. Kasparian   +11 more
core   +1 more source

Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall, Emma N. Harrison, Genevieve C. Kendall   +2 more
wiley   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 more
wiley   +1 more source

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management [PDF]

, 2012
Cerebral cavernous (or capillary-venous) malformations (CCM) have a prevalence of about 0.1-0.5% in the general population. Genes mutated in CCM encode proteins that modulate junction formation between vascular endothelial cells.
Maat-Kievit, JA, Duckers, Eric, Haasdijk, Remco, Cheng, Caroline   +3 more
core   +1 more source

Novel Method for Predicting Lp(a) From Genomic Testing Identifies ASCVD Risk Across a Diverse Cohort

JACC: Basic to Translational Science
Summary: Lipoprotein(a) (Lp[a]) is a genetic and often unmeasured contributor to atherosclerotic cardiovascular disease (ASCVD) risk. In this study, Lp(a) was estimated from exome data by quantifying Kringle IV subtype 2 repeats alongside a single ...
Natalie Telis, PhD, Hang Dai, PhD, Ashley Waring, MD, David Kann, MD, Dana Wyman, PhD, Simon White, MSc, Basil Khuder, MS, Francisco Tanudjaja, BS, Alexandre Bolze, PhD, Matthew E. Levy, PhD, Cassie Hajek, MD, Lisa M. McEwen, PhD, Douglas Stoller, MD, Christopher N. Chapman, MD, C. Anwar A. Chahal, MD, PhD, Daniel P. Judge, MD, Douglas A. Olson, MD, Joseph J. Grzymski, PhD, Nicole L. Washington, PhD, William Lee, PhD, Elizabeth T. Cirulli, PhD, Shishi Luo, PhD, Kelly Schiabor Barrett, PhD   +22 more
doaj   +1 more source

New variants of ABCA12 in harlequin ichthyosis baby

Journal of Pediatric and Neonatal Individualized Medicine, 2018
Harlequin ichthyosis (HI) is an extremely rare genetic skin disorder and the most severe form of a group of disorders, which includes lamellar ichthyosis and congenital ichthyosiform erythroderma.
Sara Peixoto, Joana Amaral, Dolores Faria, Cristina Resende, Gabriela Mimoso, Lina Ramos   +5 more
doaj   +1 more source