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12p13.3

A chromosome band present on 12p
National Institutes of Health

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8 relations
CD163 wt AlleleCD9 wt AlleleChromosome 12 Short ArmChromosomes

Papers overview

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2013
2013
Copy number variation at chromosome 5q21.2 is associated with intraocular pressure.
PURPOSE Glaucoma is a major cause of blindness in the world. Recent genome-wide association studies (GWAS) have identified common… 
Highly Cited
2009
Highly Cited
2009
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results
Cystic fibrosis (CF) is a monogenic disease due to mutations in the CFTR gene. Yet, variability in CF disease presentation is… 
Review
2005
Review
2005
Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome…
Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement… 
2005
2005
A locus for Bowen–Conradi syndrome maps to chromosome region 12p13.3
Bowen–Conradi syndrome (BCS) is a lethal autosomal recessive disorder with an estimated incidence of 1 in 355 live births in the… 
2001
2001
Association analysis of G-protein β3 subunit gene with altered Ca2+ homeostasis in bipolar disorder
Association analysis of G-protein β3 subunit gene with altered Ca 2+ homeostasis in bipolar disorder 
2001
2001
Linkage analysis in multiple sclerosis of chromosomal regions syntenic to experimental autoimmune disease loci
Multiple sclerosis is a demyelinating disorder of the central nervous system with a putative autoimmune aetiology in which… 
Highly Cited
2000
Highly Cited
2000
Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene.
1997
1997
Identification of pericentric inversion 12, inv(12)(p13.1q11), by fluorescence in situ hybridization in a patient with acute myeloid leukemia (AML-M6).
1997
1997
Unbalanced t(3;12) in a case of juvenile myelomonocytic leukemia (JMML) results in partial trisomy of 3q as defined by FISH
Juvenile myelomonocytic leukemia (JMML) is a rare disorder of early childhood, to which no recurrent chromosome rearrangement has… 
1995
1995
Mapping of an ordered set of 14 cosmids to human chromosome 12p by two-color in situ hybridization.
To map human chromosome 12p aberrations by fluorescence in situ hybridization (FISH), cosmids were isolated or obtained for 14… 
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