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Xq12

A chromosome band present on Xq.
National Institutes of Health

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3 relations
ChromosomesMIR223 wt AlleleOPHN1 wt Allele

Papers overview

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2014
2014
Defects of RNA metabolism in the pathogenesis of spinal muscular atrophy
Childhood spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous group of inherited neuromuscular disorders… 
2012
2012
A Novel de Novo Mutation Within EFNB1 Gene in a Young Girl with Craniofrontonasal Syndrome
Craniofrontonasal syndrome is mainly characterized by frontonasal dysplasia, telorbitism, a broad nasal root, and frequently a… 
2011
2011
Oculo‐ectodermal syndrome: Report of a case with mosaicism for a deletion on Xq12
The oculo-ectodermal syndrome (OES) is distinguished by the findings of aplasia cutis congenita, non-ossifying fibromas of the… 
Highly Cited
2007
Highly Cited
2007
Chromosomal aberrations in prostate cancer.
Prostate cancer incidence is steadily increasing in Western industrialized countries where it has become the most common male… 
2007
2007
Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12.
2004
2004
Familial Aggregation and Genome-Wide Linkage Analysis of Carotid Artery Plaque: The NHLBI Family Heart Study
Objective: To evaluate familial and genetic influences on carotid artery plaque, a qualitative marker of the systemic burden of… 
1999
1999
Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31.
Three boys from two families were identified as having a syndrome of X-linked mental retardation (XLMR) with microcephaly and… 
1993
1993
Fine mapping of the human SCIDX1 locus at Xq12-13.1.
Previous linkage analysis of families with X-linked severe combined immunodeficiency (SCIDX1) mapped this locus to a large region… 
1992
1992
Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp.
X-linked liver glycogenosis (XLG) is a glycogen storage disorder resulting from deficient activity of phosphorylase kinase (PHK… 
1991
1991
Gene for non-specific X-linked mental retardation maps in the pericentromeric region.
Linkage analysis was carried out in a large four-generation German family segregating for non-specific X-linked mental… 
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