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8q21-q22

A chromosome band present on 8q
National Institutes of Health

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2 relations
CYP11B2 wt AlleleChromosomes

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Genetic generalized epilepsy in three siblings with 8q21.13-q22.2 duplication
2016
2016
A novel CYP11B1 mutation in a Turkish patient with 11β-hydroxylase deficiency: An association with the severe hypokalemia leading to rhabdomyolysis
ABSTRACT Congenital adrenal hyperplasia is an autosomal recessive disorder caused by the loss of one of five steroidogenic… 
2015
2015
Genetic characterization of skull base chondrosarcomas.
OBJECT Although chondrosarcomas rarely arise in the skull base, chondrosarcomas and chordomas are the 2 major malignant bone… 
2006
2006
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.
Bietti Crystalline Corneoretinal Dystrophy Associated with CYP4V2 Gene Mutations p. 49 Diagnostic, Clinical, Cytopathological and… 
Highly Cited
2002
Highly Cited
2002
UV‐B‐type mutations and chromosomal imbalances indicate common pathways for the development of Merkel and skin squamous cell carcinomas
Two developmentally highly divergent nonmelanoma skin cancers, the epidermal squamous cell carcinomas (SCC) and the… 
Highly Cited
2000
Highly Cited
2000
Genetic Aberrations Detected by Comparative Genomic Hybridization in Ovarian Clear Cell Adenocarcinomas
Genetic abnormalities were detected by comparative genomic hybridization (CGH) in 12 ovarian clear cell adenocarcinomas. DNA… 
Highly Cited
2000
Highly Cited
2000
Identification of two novel mammalian genes establishes a subfamily of KH-domain RNA-binding proteins.
We have identified two novel human genes encoding proteins with a high level of sequence identity to two previously characterized… 
Highly Cited
1999
Highly Cited
1999
Comparative genomic hybridization reveals DNA copy number gains to frequently occur in human prostate cancer
Despite intensive studies over many years, there is only limited knowledge on the genetic changes underlying the development and… 
1999
1999
Homozygosity mapping of the Achromatopsia locus in the Pingelapese.
Achromatopsia, or total color blindness (also referred to as "rod monochromacy"), is a severe retinal disorder characterized… 
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