Results 71 to 80 of about 528,283 (301)

Survey of the genetic variability of populations of Ruditapes philippinarum from tre Gulf of Olbia (N-E Sardinia) by microsatellites = Indagine sulla variabilità genetica di popolazioni di Ruditapes philippinarum provenienti dal golfo di Olbia (N-E Sardegna) [PDF]

, 2011
Genetic variability was investigated at six microsatellite loci of the Manila clam Ruditapes philippinarum (Adams & Reeve, 1850) (Bivalvia) from the Gulf of Olbia (N-E Sardinia) and Sacca di Goro (N Adriatic Sea).
Cannas, Alessandra, Casu, Marco, Cossu, Piero, Floris, Rosanna, Fois, Nicola, Lai, Tiziana, Mura, Laura, Sanna, Daria   +7 more
core  

Genetic and phenotypic divergence in an island bird: isolation by distance, by colonization or by adaptation? [PDF]

, 2014
Discerning the relative roles of adaptive and nonadaptive processes in generating differences among populations and species, as well as how these processes interact, is a fundamental aim in biology.
Dawson, Deborah A., Illera, Juan Carlos, Jorgensen, Tove H., Richardson, David S., Spurgin, Lewis G.   +4 more
core   +2 more sources

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Preferences of Pediatric Patients and Their Caregivers for Chemotherapy‐Induced Nausea and Vomiting Control Endpoints: A Mixed Methods Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Although not always achieved, complete chemotherapy‐induced nausea and vomiting (CINV) control is the conventional goal of CINV prophylaxis. In this two‐center, mixed‐methods study, we sought to understand the preferences of adolescent patients and family caregivers for CINV control endpoints.
Haley Newman, Tadi Hondonga, Alison Berry, Caitlin Elgarten, Jason Freedman, Katelyn Oranges, Sara McDonough, Caroline Diorio, L. Lee Dupuis   +8 more
wiley   +1 more source

HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report

Molecular Genetics & Genomic Medicine, 2021
Background Recessive loss‐of‐function mutations in HINT1 are associated with predominantly motor axonal peripheral neuropathy with neuromyotonia. Twenty‐four distinct pathogenic variants are reported all over the world, including four confirmed founder ...
Bianca deAguiar Coelho Silva Madeiro, Kristien Peeters, Elker Lene Santos de Lima, Silvia Amor‐Barris, Els De Vriendt, Albena Jordanova, Maria Tereza Cartaxo Muniz, Carolina da Cunha Correia   +7 more
doaj   +1 more source

Population testing for cancer predisposing BRCA1/BRCA2 mutations [PDF]

, 2014
Background: Technological advances raise the possibility of systematic population-based genetic testing for cancer-predisposing mutations, but it is uncertain whether benefits outweigh disadvantages.
Wardle, J
core  

Intravitreal GD2‐Specific Chimeric Antigen Receptor T‐Cell Therapy for Refractory Retinoblastoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Effective treatments for advanced, treatment‐resistant retinoblastoma (RB) remain limited. GD2‐specific chimeric antigen receptor (CAR) T cells show potent antitumor activity with minimal toxicity but have not previously been evaluated in RB.
Subongkoch Subhadhirasakul, Jatuporn Sujjitjoon, Pa‐thai Yenchitsomanus, Kridtin Jarutatsanangkoon, Ng Wei Loon, Kleebsabai Sanpakit, Jassada Buaboonnam, Chayamon Takpradit, Pornpimon Yuti, Nunghathai Sawasdee, Piriya Luangwattananun, Siripakorn Sangkitporn, Arnan Limmahachai, La‐ongsri Atchaneeyasakul   +13 more
wiley   +1 more source

Ataxia-telangiectasia: founder effect among north African Jews [PDF]

Human Molecular Genetics, 1996
The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition. A-T carriers were reported to be moderately cancer-prone. A wide variety of A-T mutations, most of which are unique to single families, were identified in various ethnic ...
S, Gilad, A, Bar-Shira, R, Harnik, D, Shkedy, Y, Ziv, R, Khosravi, K, Brown, L, Vanagaite, G, Xu, M, Frydman, M F, Lavin, D, Hill, D A, Tagle, Y, Shiloh   +13 more
openaire   +2 more sources

Centronuclear myopathy in labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide [PDF]

, 2011
Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. In humans, CNM results from ~70 mutations in three major genes from the myotubularin, dynamin and amphiphysin families ...
Christophe Hitte, G. Diane Shelton, Geneviève Aubin-Houzelstein, Inès Barthélémy, Jacques Penderis, Jean-Jacques Panthier, Jean-Laurent Thibaud, Jérôme Mary, Laurent Guillaud, Laurent Tiret, Manuel Pelé, Marie Maurer, Marilyn Fender, Natasha Olby, Reiner Albert Veitia, Stéphane Blot, Thomas Bilzer   +16 more
core   +6 more sources

Outcomes of Live Virus Vaccination in Patients With Vascular Anomalies Being Treated With Sirolimus

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Live vaccination in patients with vascular anomalies (VA) receiving sirolimus remains controversial due to immunosuppressive effects and theoretical risks. Procedure This single‐center retrospective study included patients with VA less than 4 years old at the start of sirolimus therapy who were incompletely vaccinated.
Svatava Merkle, Kiersten Ricci, Kelly Blache, Rebecca A. Marsh, Adrienne M. Hammill, Elissa Engel   +5 more
wiley   +1 more source