17Q21

17q21.31 microdeletion syndrome - Wikipedia

17q21.31 microdeletion syndrome, also known as Koolen–de Vries syndrome ( KdVS), is a rare genetic disorder caused by a deletion of a segment of ...

17q21

17q21 locus and ORMDL3: an increased risk for childhood asthma.

Pediatr Res. 2014 Jan;75(1-2):165-70. doi: 10.1038/pr.2013.186. Epub 2013 Oct 28. 17q21 locus and ORMDL3: an increased risk for childhood asthma.

17q21

17q21 variants modify the association between early respiratory ...

Single nucleotide polymorphisms (SNPs) at chromosome 17q21 confer an increased risk of early-onset asthma. The objective was to study whether 17q21 ...

17q21

Common variants at 6q22 and 17q21 are associated with ...

Nat Genet. 2012 Apr 15;44(5):539-44. doi: 10.1038/ng.2245. Common variants at 6q22 and 17q21 are associated with intracranial volume. Ikram MA(1) ...

17q21

17q21.31 microdeletion syndrome - Orphanet

ORPHA:363958. Classification level: Subtype of disorder. Synonym(s):. Del(17)( q21.31); Monosomy 17q21.31. Prevalence: 1-9 / 100 000; Inheritance: -; Age of ...

17q21

Common inversion polymorphism at 17q21.31 affects expression of ...

6 Sep 2012 ... Chromosome 17q21.31 contains a common inversion polymorphism of approximately 900 kb in populations with European ancestry.

17q21

17q21.31 microduplication syndrome - Orphanet

17q21.31 microduplication syndrome. Disease definition. The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum  ...

17q21

Chromosome 17q21 SNP and severe asthma | Journal of Human ...

28 Oct 2010 ... Asthma is a complex disease that is influenced by poorly understood genetic and environmental factors. A genome-wide association study ...

17q21

Koolen-de Vries syndrome - Genetics Home Reference - NIH

3 days ago ... Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this ...

17q21

OMIM Entry - # 613533 - CHROMOSOME 17q21.31 DUPLICATION ...

A locus for autism-7 (AUTS7; 610676) has been mapped to chromosome 17q21. See also chromosome 17q21.31 deletion syndrome (610443).

17q21

Mouse models of 17q21.31 microdeletion and microduplication ...

13 Jul 2019 ... Author summary The 17q21.31 deletion syndrome, also named Koolen-de Vries syndrome (KdVS), is a rare copy number variants associated ...

17q21

OMIM Entry - # 610443 - KOOLEN-DE VRIES SYNDROME; KDVS

610443 - KOOLEN-DE VRIES SYNDROME; KDVS - CHROMOSOME 17q21.31 DELETION SYNDROME;; MICRODELETION 17q21.31 SYNDROME.

17q21

(GEP) at chromosome 17q21 associates with overexpression in ...

11 Apr 2019 ... Noted that GEP gene locates at 17q21 and the region has been frequently reported to be amplified in subset of HCC. The study aims to ...

17q21

17q21: Homepage

Welcome. The chromosome 17q21.31 microdeletion syndrome has been renamed. The condition is now called the Koolen de Vries syndrome (KdVS; MIM  ...

17q21

17q21.31 recurrent microdeletion syndrome (Koolen de Vries ...

Genomic location and clinical description of 17q21.31 recurrent microdeletion syndrome (Koolen de Vries syndrome), characterised by Long face, Intellectual ...

17q21

Decreased sphingolipid synthesis in children with 17q21 ... - JCI

13 Jan 2020 ... Risk for childhood asthma is conferred by alleles within the 17q21 locus affecting ORMDL sphingolipid biosynthesis regulator 3 (ORMDL3) ...

17q21

17q21.31 Microdeletion Syndrome: Further Expanding the Clinical ...

27 Jan 2010 ... Microdeletions of the 17q21.31 region are associated with hypotonia, oromotor dyspraxia, an apparently characteristic face, moderate learning ...

17q21

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion ...

The MAPT gene located on chromosome 17q21.31 is flanked by LCRs and two extended haplotypes, designated H1 and H2, have been identified [9, 10].

17q21

DHX8/ETV4 (17q21)

DHX8/ETV4 (17q21), Authors: Jean-Loup Huret, Philippe Dessen. Published in: Atlas Genet Cytogenet Oncol Haematol.

17q21

Menkes disease complicated by concurrent Koolen‐de Vries ...

28 Jun 2019 ... Abstract Background Koolen‐de Vries (KdV) syndrome is caused by a 17q21.31 deletion leading to clinical symptoms of hypotonia and ...

17q21

Clinical and molecular delineation of the 17q21.31 microdeletion ...

Abstract. Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution ...

17q21

17q21 variant increases the risk of exacerbations in asthmatic ...

24 Jan 2019 ... Farzan, N., Vijverberg, S., Hernandez-Pacheco, N., Bel, E., Berce, V., Bønnelykke , K., Bisgaard, H., et al. (2019). 17q21 variant increases the ...

17q21

A Virtuous Duplicity: 17q21 Variants at the Intersection between ...

"A Virtuous Duplicity: 17q21 Variants at the Intersection between Asthma Protection and Risk." American Journal of Respiratory and Critical Care Medicine , ...

17q21

Why is Chromosome 17q21 linked to Asthma? | Insight Medical ...

Several genome wide association studies (GWAS) and non-GWAS studies have demonstrated a strong genetic linkage of chromosome 17q21 genes with ...

17q21

Search results for 17q21.32

P Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

17q21

Evidence for a Major Quantitative Trait Locus on Chromosome ...

Evidence for a Major Quantitative Trait Locus on Chromosome 17q21 Affecting Low-Density Lipoprotein Peak Particle Diameter. Yohan Bossé; , MSc; Louis ...

17q21

Sequence variants on 17q21 are associated with the susceptibility of ...

AbstractObjective: Single nucleotide polymorphisms (SNPs) on 17q21 are known to be associated with asthma disease in multiple populations. This study was ...

17q21

Linkage of early-onset familial breast cancer to chromosome 17q21 ...

Chromosome 17q21 appears to be the locale of a gene for inherited susceptibility to breast cancer in families with early-onset disease. Genetic analysis yields a ...

17q21

Common variants at 6q22 and 17q21 are associated with ...

Common variants at 6q22 and 17q21 are associated with intracranial volume. M. Arfan Ikram, M. Fornage, A.V. Smith, S. Seshadri, R. Schmidt, S. Debette, H.A. ...

17q21

Reassessing the Evolutionary History of the 17q21 Inversion ...

11 Nov 2019 ... A polymorphic inversion that lies on chromosome 17q21 comprises two major haplotype families (H1 and H2) that not only differ in orientation ...

17q21

Genetic Flux Between H1 and H2 Haplotypes of the 17q21.31 ...

The chromosome 17q21.31 inversion is a 900-kb common structural polymorphism found primarily in European population. Although the genetic flux within ...

17q21

Association of 17q21-q24 Gain in Ovarian Clear Cell ...

1 Jun 2003 ... Association of 17q21-q24 Gain in Ovarian Clear Cell Adenocarcinomas with Poor Prognosis and Identification of PPM1D and APPBP2 as ...

17q21

Effect of 17q21 Variants and Smoking Exposure in Early-Onset Asthma

6 Nov 2008 ... Background A genomewide association study has shown an association between variants at chromosome 17q21 and an increased risk of ...

17q21

17q21 variant increases the risk of exacerbations in asthmatic ...

29 Oct 2019 ... 17q21 variant increases the risk of exacerbations in asthmatic children despite inhaled corticosteroids use. N. Farzan, S. J. Vijverberg, ...

17q21

Abstract 2260: Haplotypes of chromosome 17q21.31 affect liver ...

1 Jul 2019 ... Abstract 2260: Haplotypes of chromosome 17q21.31 affect liver metastasis by small intestinal neuroendocrine tumors. Shinta Kobayashi ...

17q21

17q21.31 sub-haplotypes underlying H1-associated risk for ...

30 Nov 2019 ... The MAPT 17q21.31 locus lies within a 1.5Mb inversion region of high linkage disequilibrium (LD), conferring two distinct haplotypes; H1, ...

17q21

Hypersociability in the behavioral phenotype of 17q21. 31 ...

1 Jan 2013 ... The 17q21.31 microdeletion syndrome with its characteristic features including developmental delay, moderate intellectual disability, facial ...

17q21

Decreased sphingolipid synthesis in children with 17q21 asthma ...

13 Jan 2020 ... Risk alleles within the 17q21 region that increase. ORMDL3 are not only linked to childhood-onset asthma but also to wheezing during infancy ...

17q21

A mosaic de novo duplication of 17q21–25 is associated with GH ...

We conclude that the 17q21–25 duplication is associated with GH insensitivity and disturbed STAT5B, PI3K, and NF-κB signaling, possibly due to PRKCA ...

17q21

17q21.31 microduplications

2. 17q21.31 microduplications. A 17q21.31 microduplication is a rare genetic condition caused by an extra part of one of the body's 46 chromosomes –.

17q21

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