Results 31 to 40 of about 1,226,398 (302)

Variegated overexpression of chromosome 21 genes reveals molecular and immune subtypes of Down syndrome

Nature Communications
Individuals with Down syndrome, the genetic condition caused by trisomy 21, exhibit strong inter-individual variability in terms of developmental phenotypes and diagnosis of co-occurring conditions.
Micah G. Donovan, Neetha P. Eduthan, Keith P. Smith, Eleanor C. Britton, Hannah R. Lyford, Paula Araya, Ross E. Granrath, Katherine A. Waugh, Belinda Enriquez Estrada, Angela L. Rachubinski, Kelly D. Sullivan, Matthew D. Galbraith, Joaquin M. Espinosa   +12 more
doaj   +1 more source

HUBUNGAN FUNGSITIROID DENGAN GANGGUAN PENDENGARAN PADA ANAK SINDROM DOWN [PDF]

, 2015
Background: Children with Down syndrome have increased risk of health problems. Two common health problems in children with Down syndrome are thyroid dysfunction and hearing disorder.
Margono, Irwan Arif, Purwanti, Asri, Widodo, Pujo   +2 more
core   +1 more source

Sirolimus for Extracranial Arteriovenous Malformations: A Scoping Review of the Evidence in Syndromic and Non‐Syndromic Cases

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson, Ingrid Winship, Gary Hammerschlag, Laura Scardamaglia   +3 more
wiley   +1 more source

An integrated multi-omic natural history study of human development, sexual dimorphism, and the effects of trisomy 21

Nature Communications
Human development involves multiple signaling pathways acting concertedly in an age- and sex-specific fashion. Trisomy 21, the genetic cause of Down syndrome, dysregulates human development leading to both early neurodevelopmental delays and atypical ...
Neetha Paul Eduthan, Micah G. Donovan, Paula Araya, Angela L. Rachubinski, Kelly D. Sullivan, Matthew D. Galbraith, Joaquin M. Espinosa   +6 more
doaj   +1 more source

The triple challenges associated with age-related comorbidities in Down syndrome [PDF]

, 2014
Background Major increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring specialist care, which in turn necessitates greater understanding of the nature, timing and ...
Bittles, A.H., Dye, D.E., Glasson, E.J.
core   +1 more source

Modelling Down syndrome [PDF]

Down Syndrome Research and Practice, 2008
Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down syndrome, and
openaire   +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

Reflections on the Quality of Life of Adults with Down Syndrome from an International Congress

Disabilities
People with Down Syndrome often experience more barriers to achieving a good quality of life compared to people without disabilities. A lot of the existing research has focused on the views of parents and professionals, rather than directly including the
Rachel Spencer, Robin Gibson, Leigh Creighton, Catherine Watson, Roy McConkey   +4 more
doaj   +1 more source

Self-injurious behaviour in individuals with autism spectrum disorder [PDF]

, 2012
Background: Autism spectrum disorder (ASD) has been identified as a risk marker for self-injurious behaviour. In this study we aimed to describe the prevalence, topography and correlates of self-injury in individuals with ASD in contrast to individuals ...
Moss, J, Nelson, L, Oliver, C, Richards, C   +3 more
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