Results 31 to 40 of about 884,084 (316)

Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations

Orphanet Journal of Rare Diseases, 2019
Background Glanzmann thrombasthenia (GT) is a rare autosomal recessive abnormality of platelet aggregation with quantitative and/or qualitative abnormality of αIIbβ3 integrin.
F. Zafarghandi Motlagh, M. S. Fallah, H. Bagherian, T. Shirzadeh, S. Ghasri, S. Dabbagh, M. Jamali, Z. Salehi, M. Abiri, S. Zeinali   +9 more
doaj   +1 more source

Morphometry and morphological analysis of carotico-clinoid foramen: an anatomical study with clinical implications

Folia Morphologica, 2023
BACKGROUND: The dural fold between anterior and middle clinoid processes on mineralisation leads to the formation of caroticoclinoid foramen (CCF). Different morphology of this foramen presents with different clinical features.
A. Priya, R. K. Narayan, S. K. Ghosh, P. Kumar   +3 more
doaj   +1 more source

Generation of Dual-Color FISH probes targeting 9p21, Xp21, and 17p13.1 loci as diagnostic markers for some genetic disorders and cancer in Egypt

Journal of Genetic Engineering and Biotechnology
Introduction: The fluorescence in situ hybridization (FISH) is a very important technique, as it can diagnose many genetic disorders and cancers. Molecular cytogenetic analysis (FISH) can diagnose numerical chromosome aberrations, sex chromosomes ...
Amal M. Mohamed, Maha Eid, Ola Eid, Shymaa H Hussein, Wael Mahmoud, Rana Mahrous, Khaled Refaat, Marwa Farid   +7 more
doaj   +1 more source

Human Genetics of Cardiomyopathies

, 2016
The identification of a disease-causing variant in a patient diagnosed with cardiomyopathy allows for presymptomatic testing in at risk relatives. Carriers of a pathogenic variant can subsequently be screened at intervals by a cardiologist to assess the risk for potentially life-threatening arrhythmias which can be life-saving.
Vermeer, Alexa M. C., Wilde, Arthur A. M., Christiaans, Imke   +2 more
openaire   +2 more sources

Venous Thromboembolism in Pediatric Bone Sarcoma Patients: A 10‐Year, Single‐Institution Experience Encompassing the COVID‐19 Pandemic

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Osteosarcoma (OS) and Ewing sarcoma (EWS) are the most common primary bone cancers in children, but acute thrombosis is poorly characterized in this population. Our study evaluated the rates of venous thromboembolism (VTE) and associated risk factors in pediatric patients with bone sarcomas treated over a 10‐year period encompassing
Sarah Kappa, Shou Xu, Mark Zobeck, Sarah E. Sartain, Nino Rainusso, Lisa Wang, Nicole Montgomery, Paige Wheaton, Sarah Whittle   +8 more
wiley   +1 more source

Serological Benefit of SARS‐CoV‐2 Vaccination Relative to Infection in Children With Acute Lymphoblastic Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Children with acute lymphoblastic leukemia (ALL) are at risk of severe outcomes from SARS‐CoV‐2 (SCV2). In the post‐pandemic context, where most children have been infected with SCV2, there are limited data on whether vaccination remains beneficial in children with ALL.
Janna R. Shapiro, Freda Qi, Karen Colwill, Alina D. Dorogy, Ying Liu, Michelle Science, Anne‐Claude Gingras, James M. Rini, Sumit Gupta, Sarah Alexander, Shelly Bolotin, Tania H. Watts   +11 more
wiley   +1 more source

The need for interaction between assisted reproduction technology and genetics: Recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology

, 2006
Infertility and reproductive genetic risk are both increasing in our societies because of lifestyle changes and possibly environmental factors. Owing to the magnitude of the problem, they have implications not only at the individual and family levels but
Kääriäinen, Helena, Coviello, Domenico, Harper, Joyce, Cornel, Martina, Geraedts, Joep P.M., Aymé, Ségolène, Tranebjaerg, Lisbeth, Lundin, Kersti, Kostolanyi, György, Sermon, Karen, Braga, Suzanne, Evers-Kiebooms, Gerry, Sequeiros, Jorge, Gianaroli, Luca, Anastasiadou, Violetta   +14 more
core   +1 more source

Time Toxicity in Wilms Tumor: Quantifying the Burden of Healthcare Interaction in the First Year After Diagnosis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Wilms tumor (WT) treatment imposes a significant time burden on patients and their families. Time toxicity is a patient‐centered metric that quantifies the burden of healthcare interaction. We sought to define time toxicity in the first year after diagnosis of WT and hypothesized that it would increase as tumor stage and treatment ...
Caleb Q. Ashbrook, Veerain Gupta, Nicholas J. Clark, Vijay Rings, Lauren E. Corona, Douglass B. Clayton, Daniel J. Benedetti   +6 more
wiley   +1 more source

Genome sequencing as a generic diagnostic strategy for rare disease

Genome Medicine
Background To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from karyotyping to exome sequencing.
Gaby Schobers, Ronny Derks, Amber den Ouden, Hilde Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas Galbany, Marjan Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom Hofste, Debby Hellebrekers, Nicole de Leeuw, Alexander Stegmann, Erik-Jan Kamsteeg, Aimee D. C. Paulussen, Marjolijn J. L. Ligtenberg, Xiangqun Zheng Bradley, John Peden, Alejandra Gutierrez, Adam Pullen, Tom Payne, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Marcel Nelen, Helger G. Yntema, Lisenka E. L. M. Vissers   +29 more
doaj   +1 more source

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia

iScience, 2022
Summary: Homozygous familial hypercholesterolemia (HoFH) is an extremely rare metabolism disorder usually caused by low-density lipoprotein receptor (LDLR) mutations.
Zhiyong Du, Fan Li, Linyi Li, Yu Wang, Jianping Li, Ya Yang, Long Jiang, Luya Wang, Yanwen Qin   +8 more
doaj   +1 more source