Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21 (scientific article published on 25 June 2019)

Down syndrome--a gene dosage disease caused by trisomy of genes within a small segment of the long arm of chromosome 21, exemplified by the study of effects from the superoxide-dismutase type 1 (SOD-1) gene

Q40816089

A microRNA cluster (let-7c, miRNA-99a, miRNA-125b, miRNA-155 and miRNA-802) encoded at chr21q21.1-chr21q21.3 and the phenotypic diversity of Down's syndrome (DS; trisomy 21)

Q41689316

Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer's Disease: The Role of APP.

Q42601869

Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.

Q45829256

Neurogenesis impairment: An early developmental defect in Down syndrome.

Q48174190

Diagnostic Role of MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome.

Q50014921

Plasma and urinary metabolomic profiles of Down syndrome correlate with alteration of mitochondrial metabolism

Q50042094

Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases.

Q50925202

Relationship between brain and cognitive processes in Down syndrome.

Q51021584

Partial trisomy 21: a fifty-year follow-up visit.

Q53518216

A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.

Q54390742

Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects.

Q55654778

EXCEPTIONAL INTELLIGENCE IN A MONGOLOID CHILD OF A FAMILY WITH A 13-15/PARTIAL 21 (D-PARTIAL G) TRANSLOCATION

Q78314959

[Human chromosomes in tissue cultures]

Q78552637

Incomplete trisomy in a mongoloid child exhibiting minimal stigmata

Q78895365

Mirror duplication of chromosome 21 with complete phenotype of Down syndrome

Q79664022

Partial trisomy of chromosome 21 without the Down syndrome phenotype

Q87375306

An integrated encyclopedia of DNA elements in the human genome

Q22122150

Medical Update for Children With Down Syndrome for the Pediatrician and Family Practitioner

Q22251418

RNA-Seq: a revolutionary tool for transcriptomics

Q24596169

Identification of minimal eukaryotic introns through GeneBase, a user-friendly tool for parsing the NCBI Gene databank

Q27302042

miRBase: annotating high confidence microRNAs using deep sequencing data

Q28660701

GeneBase 1.1: a tool to summarize data from NCBI gene datasets and its application to an update of human gene statistics

Q31151479

A case of apparent trisomy 21 without the Down's syndrome phenotype

Q33679179

Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings

Q33679774

Down's syndrome

Q34191091

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Q34325983

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Q34352054

Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.

Q34628601

Chromosome 21-derived hsa-miR-155-5p regulates mitochondrial biogenesis by targeting Mitochondrial Transcription Factor A (TFAM).

Q34669291

The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome

Q34994416

Integrated differential transcriptome maps of Acute Megakaryoblastic Leukemia (AMKL) in children with or without Down Syndrome (DS)

Q35005153

Down syndrome phenotypes: the consequences of chromosomal imbalance

Q35344729

Generation of genomic deletions in mammalian cell lines via CRISPR/Cas9

Q35535683

miRNA-155 upregulation and complement factor H deficits in Down's syndrome.

Q35690949

Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotype

Q36821977

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Q37259226

Down syndrome: from understanding the neurobiology to therapy

Q37347649

A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype.

Q37404053

Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.

Q37530232

Pathogenesis of mental deficiency in trisomy 21.

Q37866102

Genomic determinants in the phenotypic variability of Down syndrome

Q38006081

Analysis of microRNA expression profile by small RNA sequencing in Down syndrome fetuses.

Q38485313

Impact of gene editing on the study of cystic fibrosis

Q38871526

Down syndrome and the complexity of genome dosage imbalance

Q39060506

Chromosome 21-Encoded microRNAs (mRNAs): Impact on Down's Syndrome and Trisomy-21 Linked Disease

Q39422078

Juicebox Provides a Visualization System for Hi-C Contact Maps with Unlimited Zoom

Q39550920

P433

issue

P921

main subject

Down syndrome

Q47715

P304

page(s)

e797

P577

publication date

2019-06-25

P1433

published in

Molecular genetics & genomic medicine

Q27724709

P1476

title

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21

P478

volume

Reverse relations

cites work (P2860)

Q91653370	Metabolic correlates of prevalent mild cognitive impairment and Alzheimer's disease in adults with Down syndrome
Q96765718	Plasma metabolome and cognitive skills in Down syndrome