Skip to search formSkip to main contentSkip to account menu

Xq22.1

A chromosome band present on Xq
National Institutes of Health

Related topics

Related topics

1 relation
Chromosomes

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
PP01.11 – 2618: Refractory epilepsy and NXF2 gene – Coincidence or causality?
2013
2013
Identification of Xq22.1-23 as a region linked with hereditary recurrent spontaneous abortion in a family
Background: Recurrent spontaneous abortion (RSA) is one of the most common health complications with a strong genetic component… 
2012
2012
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency.
Fabry disease is an X-linked lysosomal disease caused by mutations of the alpha-galactosidase A (GLA) gene at chromosome subband… 
2011
2011
Prediction of disease causing gene in Xq22.1 region of human X-chromosome
A comprehensive analysis of the X-chromosome led to the discovery of an important region found to be Xq22.1. Xq22.1 was analysed… 
2009
2009
Fabry disease in a patient with Turner syndrome
SummaryWe report a unique case with co-occurrence of Turner syndrome and Fabry disease (OMIM #301500). The latter is a rare X… 
Review
2008
Review
2008
[Fabry disease in light of recent review].
Fabry disease is a lysosomal storage disorder that is caused by mutations in the gene encoding a-galactosidase A on Xq22.1… 
2006
2006
A Case of 46,X,der(X)t(X;X)(q22.1;p11) Xq22.1→Xqter in a 12-Year-Old Girl with Premature Ovarian Failure
Premature ovarian failure due to Xp duplication and Xq deletion has been reported in four patients, the youngest of whom was 18… 
2006
2006
Prenatal and postnatal characterization of a de novo Xq22.1 terminal deletion.
We present a case of a de novo Xq22.1 chromosomal terminal deletion discovered prenatally by conventional cytogenetics. The… 
2003
2003
Prenatal diagnosis of de novo partial trisomy Xq (Xq22.1→qter) and terminal Xp deletion following sonographic detection of intrauterine growth restriction
1997
1997
Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1.
Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism that results from the deficient activity of… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)