Results 71 to 80 of about 1,216,010 (296)

Commentary: The mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients

Frontiers in Endocrinology, 2023
Ivo P. van de Peppel, Ivo P. van de Peppel, Serwet Demirdas, Behiye Özcan   +3 more
doaj   +1 more source

Psychosocial Risks of Storing and Using Human Tissues in Research [PDF]

, 1997
Dr. Merz argues that genetics technology makes it more compelling that researchers plan more carefully for the collection and disposition of information derived from subjects\u27 tissues and ...
Merz, Jon F.
core   +1 more source

Prevalence and Trajectory of Household Material Hardship Among Children With Advanced Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background/Objectives Families of children with advanced cancer living in poverty experience inferior outcomes including poor parent mental health and worse child quality of life. Household material hardship (HMH: food, housing, transportation, and/or utility insecurity) is a modifiable poverty exposure—and potential intervention target—that ...
Sarah Wright, Morgan A. Paul, Selena Murcia Mendez, Emily Jones, Lucille Lokko, Chelsea Heneghan, Nicholas Purol, Morgan Arnold, Rahela Aziz‐Bose, Colleen A. Kelly, Sandi L. Pruitt, Joanne Wolfe, Kira Bona, Puja J. Umaretiya   +13 more
wiley   +1 more source

Calcium Release Deficiency Syndrome (CRDS): Rethinking “Atypical” Catecholaminergic Polymorphic Ventricular Tachycardia

Cardiogenetics
Since the first description of catecholaminergic polymorphic ventricular tachycardia (CPVT) in the 1970s, new insights have progressively unraveled the understanding of this inherited arrhythmia syndrome.
Alessandra P. Porretta, Etienne Pruvot, Zahurul A. Bhuiyan   +2 more
doaj   +1 more source

A High‐Sensitivity Circulating Nucleic Acid Sequencing Assay for Assessing Treatment Response to Alectinib in a Pediatric Patient With ALK‐Rearranged Non–Small Cell Lung Cancer

Pediatric Blood &Cancer, EarlyView.
Alberto D. Guerra, Nicholas F. Evageliou, Vandana Batra, Kristen L. Dalton, Stephanie Ortel, Usman Ashraf, Tricia R. Bhatti, Lisa J. States, Lea F. Surrey, Theodore W. Laetsch   +9 more
wiley   +1 more source

Financial Burden Associated With Hospitalisation Among Families of Childhood Brain Tumours in Australia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Families of children with cancer experience significant financial strain, even with universal healthcare. Indirect costs, such as productivity losses and non‐medical expenses, are rarely included in economic evaluations, and little is known about how effectively financial aid programmes alleviate this burden. Childhood brain tumours
Megumi Lim, Natalie Bradford, David Brain, Sameera Senanayake, Sanjeewa Kularatna, Kate Young, Christine Cashion, Tim Hassall, Susanna Cramb   +8 more
wiley   +1 more source

Clinical genetics [PDF]

BMJ, 2001
J. P. van Tintelen, C. Marcelis, I. M. van Langen   +2 more
  +5 more sources

How Can We Move Clinical Genomics Beyond the Hype? [PDF]

, 2011
Examines the debate over increased use of genetic testing, due in part to lax regulation, and its consequences: wasteful spending, patient harm, and health system challenges.
Michael L. Millenson
core  

The Fate (Outcome) of Clinically Apparent Single Lesion and Oligofocal Nephroblastomatosis Treated According to SIOP/GPOH Protocols for Wilms Tumor

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter, Jens‐Peter Schenk, Jenny Wegert, Manfred Gessler, Leo Kager, Stefan Wagenpfeil, Marina Müller, Jean‐Michel Wolff, Joerg Fuchs, Steven W. Warmann, Clemens‐Magnus Meier, Jochen Hubertus, Christian Rübe, Christian Vokuhl, Patrick Melchior, Lena Tschirner, Norbert Graf, Rhoikos Furtwängler   +17 more
wiley   +1 more source

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome [PDF]

, 2015
Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2).
Bannas, Peter, Behzadi, Cyrus, Bernhardt, Alexander M, Blankenberg, Stefan, De Backer, Julie, Fuisting, Bettina, Hillebrand, Mathias, Kölbel, Tilo, Püschel, Klaus, Robinson, Peter N, Rybczynski, Meike, Schüler, Helke, Sheikhzadeh, Sara, von Kodolitsch, Yskert   +13 more
core   +2 more sources