Down Syndrome

Down syndrome is a chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe intellectual disability. Discover the latest research on Down syndrome here.

September 15, 2020

Application of non-invasive prenatal testing for the screening of fetal chromosomal abnormalities in 12 085 cases

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Luming WangXiaodan Liu
September 15, 2020

Application of in situ amniocyte culture for prenatal diagnosis

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Daoqi HuangJiansheng Zhu
September 14, 2020
Review

Neurologic complications of Down syndrome: a systematic review

Journal of Neurology
Jonathan D SantoroMichael S Rafii
September 14, 2020
Review

Sella turcica morphology in patients with genetic syndromes: a systematic review

Orthodontics & Craniofacial Research
Imaan A Roomaney, Manogari Chetty
September 11, 2020

Obstructive sleep apnea in adults with Down syndrome

American Journal of Medical Genetics. Part a
Pedro LandeteJulio Ancochea
September 13, 2020
Case Report

Clinical characteristics of individuals with Down syndrome deceased with CoVID-19 in Italy-A case series

American Journal of Medical Genetics. Part a
Emanuele Rocco VillaniItalian National Institute of Health CoVID-19 Mortality Group
September 15, 2020

Bisphenol A(BPA), BPS and BPB-induced oxidative stress and apoptosis mediated by mitochondria in human neuroblastoma cell lines

Ecotoxicology and Environmental Safety
Congcong WangRuifang Fan
September 16, 2020

Demographic and Clinical Characteristics Associated With Adherence to Guideline-Based Polysomnography in Children With Down Syndrome

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery
Philip D KnollmanJareen Meinzen-Derr
September 14, 2020

Long-term outcome after early repair of complete atrioventricular septal defect in young infants

The Journal of Thoracic and Cardiovascular Surgery
Jens Johansson RamgrenJohan Sjögren
September 15, 2020

Retrospective analysis and mining of data from 10 840 patients undergoing non-invasive prenatal screening

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Fang ChenLina Zeng
September 15, 2020

Genetic analysis of a 45,X male fetus

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Yan ZengTao Zhang
September 11, 2020

Uniparental disomy of chromosome 21: A statistical approach and application in paternity tests

Forensic Science International. Genetics
C P CavalheiroC S Alho
September 16, 2020

A Multicentered Study on Epidemiologic and Clinical Characteristics of 37 Neonates With Community-acquired COVID-19

The Pediatric Infectious Disease Journal
Mehmet Kenan KanburogluEsin Koc
September 18, 2020

Hirschsprung Disease - Clinical Relevance of RET Mutations

Zeitschrift für Geburtshilfe und Neonatologie
Julia Katharina WenskusKonrad Reinshagen
September 13, 2020

PSMA-PET identifies PCWG3 target populations with superior accuracy and reproducibility when compared to conventional imaging: a multicenter retrospective study

Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine
Andrea FarolfiWolfgang P Fendler
September 15, 2020

Immune reconstitution inflammatory syndrome (IRIS) in an HIV-positive patient with Pneumocystis jirovecii pneumonia (PjP) and morbus Kaposi

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Diyani DewasurendraMario Sarcletti

Sign up to follow this feed and discover related papers.

Related Feeds

AAV-based Gene Therapy

Adeno-associated virus (AAV)-based gene therapy is a biological vector that is being researched to be used as a potential therapeutic option. This gene therapy is designed to insert fragments of DNA into targeted cells to help treat diseases, such as hemophilia a. Discover the latest research on AAV-based gene therapy here.

ALS: Genetics

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

Acute Myeloid Leukaemia & RNA

Acute myeloid leukaemia (AML) is a common hematological type of cancer. As the population ages, there has been a rise in the frequency of AML. RNA expression has been used to see if there are different genetic profiles that exist within AML and whether these may underpin the variations in survival rates. Here is the latest research on AML and RNA.

Alzheimer's Disease: Genetics

Alzheimer's disease is a chronic neurodegenerative disease. Discover genetic and epigenetic aspects of Alzheimer’s disease, including genetic markers and genomic structural variations here.

Antisense Oligonucleotides: ND

This feed focuses on antisense oligonucleotide therapies such as Inotersen, Nusinursen, and Patisiran, in neurodegenerative diseases including amyotrophic lateral sclerosis.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Breast Cancer: Risk Factors

Breast cancer is a multifactorial disease that is influenced by both environmental and genetic factors. Discover the latest research on the environmental and genetic risk factors for breast cancer here.

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.

Cell-Type-Specific Viral Vectors

Viral vectors are used in biological research and therapy to deliver genetic material into cells. However, the efficiency of viral vectors varies depending on the cell type. Here is the latest research on cell-type-specific viral vectors.

Childhood Vascular Tumor: Genetics

Childhood vascular tumors are formed from cells related to blood vessels or lymph vessels. Here is the latest research on the genetics of childhood vascular tumors.

© 2020 Meta ULC. All rights reserved
/feed-previews/down-syndrome/d72c3b0e-4c55-4017-af98-7b8b99bbcc39