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14q32.2

A chromosome band present on 14q
National Institutes of Health

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5 relations
BCL11B wt AlleleChromosomesEVL wt AlleleMIR342 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints…
2012
2012
Paternal uniparental disomy 14 and related disorders
Although recent studies in patients with paternal uniparental disomy 14 [upd(14)pat] and other conditions affecting the… 
2011
2011
A deletion 13q34/duplication 14q32.2–14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia
During infancy, this 50‐year‐old man with a previously undiagnosed multiple congenital anomalies/intellectual disability (MCA/MR… 
2010
2010
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.
Nearly all recurrent microdeletion/duplication syndromes described to date are characterized by the presence of flanking low copy… 
2009
2009
Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat‐like clinical phenotype
Recently, three reports described deletions and epimutations affecting the imprinted region at chromosome 14q32.2 in individuals… 
2008
2008
Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype
Maternal uniparental disomy for chromosome 14 (upd(14)mat) causes clinically discernible features such as pre- and/or postnatal… 
2005
2005
Striking Facial Dysmorphisms and Restricted Thymic Development in a Fetus with a 6-Megabase Deletion of Chromosome 14q
During routine ultrasound screening at 12 weeks 5 days of gestation, a nuchal translucency of 7 mm, an omphalocele, and fetal… 
2002
2002
Genomic organization and mapping of the gene encoding the PP2A B56gamma regulatory subunit.
Protein phosphatase 2A (PP2A) is a major serine/threonine phosphatase that regulates a wide variety of cellular processes. The… 
1996
1996
Assignment of the human tryptophanyl-tRNA synthetase gene (WARS) to chromosome 14q32.2 --> q32.32.
Tryptophanyl-tRNA synthetase catalyzes the aminoacylation of tRNAtrp with tryptophan, an essential function in the cell's protein… 
1987
1987
Comparison of cytologic and genetic distances between long arm subtelomeric markers of human autosome 14 suggests uneven distribution of crossing-over.
The analysis of two rodent X human somatic cell hybrids, carrying different inborn translocations of the human chromosome 14 long… 
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